Final Program - APHL Shaunak, Washington State ... 2017 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM. 2017 APHL Newborn Screening and Genetic

September 10–13, 2017 / New Orleans, LA

Final Program

#nbsgtswww.aphl.org/NBSGTS

Schedule at a glance 2Welcome 3Map 8Conference schedule 9Exhibitors 30Poster abstracts 47Looking

at theBig Picture

in the Big Easy

2017 APHL Newborn Screening and Genetic Testing Symposium

Get the Mobile App!Search for APHL in your app store, or go to www.aphl.org /app

Meeting at a GlanceTIME SUNDAY, SEPTEMBER 10 MONDAY, SEPTEMBER 11 TUESDAY, SEPTEMBER 12 WEDNESDAY, SEPTEMBER 13

7:30 am

Regi

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Roundtable (45 min)

Regi

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Innovate! (45 min)

Regi

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Roundtable (45 min)

Regi

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ISNS Meeting8:00 am

8:30 am

Welcome & Session 1 – Current RUSP Conditions

Follow-up-QA/QC Joint Session – Cut-offs

Session 6 – International Perspectives

Session 10 – Molecular Technology9:00 am

9:30 am

10:00 am

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Break Break

10:30 am BreakFollow-up-QA/QC Joint Session –

TimelinessSession 7 – Communicating

with Families/PublicSession 11 –

Spinal Muscular Atrophy11:00 amSession 2 –

Quality Improvement Activities11:30 am

12:00 pm

Awards LunchBox lunch in Exhibit Hall –

Visit exh/posters

Adjournment

12:30 pm

Lunch (on your own)

NSB Lab Tour – The lab is in Baton Rouge

which is a 90 minute drive. Lunch will be provided.

1:00 pm

1:30 pmSession 8 –

Parent/Patient Panel2:00 pm

Keynote Session 4 – Follow-up Activities in NBS2:30 pm

3:00 pmBreak – Raffle

3:30 pm

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Break Break

4:00 pmSession 3 –

Past, Present & Future NBS Conditions

Session 5 – FLEPSISession 9 – HIT

4:30 pm

5:00 pm

5:30 pm

Welcome Reception6:00 pmMeet the Manufacturer

Off-site Social 6:00 pm –10:00 pm

6:30 pm

7:00 pm

7:30 pm

Short-term Follow-up Mixer Follow-up forum Gene Sequencing Meeting8:00 pm

8:30 pm

9:00 pm

3 | 2017 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM

Dear Friends, Colleagues and Attendees,

On behalf of the Association of Public Health Laboratories (APHL), the Louisiana Public Health Laboratory, the International Society for Neonatal Screening and the Symposium Planning Committee, it is our great pleasure to welcome you to the 2017 APHL Newborn Screening and Genetic Testing Symposium (NBSGTS).

Welcome to the wonderful State of Louisiana and to the great City of New Orleans! Known as “The Big Easy,” New Orleans is one of the most unique cities in the United States with its richness in music, cuisine, architecture and cultural diversity. This year’s theme for the symposium is “Looking at the Big Picture in The Big Easy.” As the newborn screening community addresses how best to incorporate new screening methods, disorders and address ethical issues, this is a chance for us to step back and study the current realm of newborn screening as revealed by the many experienced speakers and presenters from around the world.

The first day of the meeting will feature a keynote panel discussion on “The Big Picture for Population Screening: Lessons from Leaders.” Each symposium day will feature cutting edge presentations within several categories of plenary sessions. Morning Roundtable Sessions, Corporate Partner Presentations and an Evening Forum will provide opportunities for you to participate and focus more closely on specific issues or areas of expertise in smaller groups. Monday features an Awards Luncheon to recognize champions of Newborn Screening in three areas and Tuesday features the always cherished Parent/Patient Panel Session. Wednesday concludes by keeping us abreast of the continued advances in molecular testing, a special session dedicated to spinal muscular atrophy and an opportunity to tour the Louisiana State Newborn Screening Laboratory.

While you are here at NBSGTS 2017 in New Orleans, we hope you experience and learn useful new things that you can take back and share with your colleagues at home, and that you will meet many new friends from across the country and around the globe who will become part of a long-lasting network of support throughout your career in newborn screening. Celebration is what New Orleans is all about, so at NBSGTS 2017 celebrate the fact that each and every one of you are part of an effort that makes a dynamic impact on the health and lives of thousands of babies and families.

We would like to thank the members of the 2017 APHL Newborn Screening and Genetic Testing Symposium Planning Committee for contributing their time on symposium calls and reviewing abstracts. We are especially thankful for the work that each and every one of our colleagues contributes every day and the passion that they share in being part of the Big Picture of Newborn Screening.

Sincerely,

Terry CrockettBiochemistry Laboratory ManagerLouisiana Public Health LaboratoryCo-Chair, 2017 APHL NBSGTS Planning Committee

Patrick V. HopkinsNewborn Screening Project SpecialistMissouri State Public Health LaboratoryCo-Chair, 2017 APHL NBSGTS Planning Comm


The Association of Public Health LaboratoriesVISION: A healthier world through quality laboratory systems.

MISSION: Shape national and global health outcomes by promoting the value and contributions of public health laboratories and continuously improving the public health laboratory system and practice.

The Association Of Public Health Laboratories (APHL) is a non-profit 501(c)(3) organization representing governmental laboratories that monitor and detect public health threats, including emerging infectious disease surveillance, detection of metabolic and genetic conditions in newborns, water contamination identification and foodborne outbreak detection. APHL members are state, local, county and city public health laboratories, state and local environmental health laboratories, state agricultural laboratories, corporations, individual and student members with an interest in public health laboratory issues, and organizations that share common goals with APHL.

APHL is a national leader in: • Scientific Expertise • Education and Training• Health Policy

• Informatics• Quality Assurance• Workforce Development

• Laboratory Systems• Global Laboratory Capacity

APHL Board of DirectorsEwa King, PhD, Rhode Island, President

Joanne Bartkus, PhD, D(ABMM), Minnesota, President Elect

A. Chris Whelen, PhD, D(ABMM), Hawaii, Past President

Bill Whitmar, MS, Missouri, Secretary-Treasurer

Grace Kubin, PhD, Texas, Member-at Large

Denise Toney, PhD, Virginia, Member-at-Large

Scott Zimmerman, DrPH, North Carolina, Member-at-Large

Maria Lucia Ishida, PhD, New York, Public Health Associate Institutional Member

Tamara Theisen, MT(ASCP), Saginaw County, Michigan, Local Institutional Member

Mark Wade, San Antonio, Texas, Local Institutional Member

Scott Becker, MS, Executive Director (ex-officio)

2017 Newborn Screening and Genetic Testing Symposium Planning CommitteeTerry Crockett, Louisiana Office of Public Health, Co-Chair

Patrick V. Hopkins, Missouri State Public Health Laboratory, Co-Chair

Hans Andersson, MD, Hayward Genetic Center, Tulane University

Susan Berry, MD, University of Minnesota

Natasha Bonhomme, Genetic Alliance

Michele Caggana, ScD, FACMG, New York State Department of Health

Carla Cuthbert, PhD, FCCMG, FACMG, Centers for Disease Control and Prevention

Sara Denniston, Oregon State Public Health Laboratory

M. Christine Dorley, MSP, MT(ASCP), Tennessee Department of Health

Amy Gaviglio, MS, CGC, Minnesota Department of Health

Art Hagar, PhD, Georgia Department of Public Health

Cheryl Harris, MPH, Louisiana Department of Health

Cheryl Hermerath, MBA, DLM(ASCP), RN(NRCM), Oregon Public Health Laboratory (retired)

Rodney Howell, MD, University of Miami

Carol Johnson, University of Iowa

Jami Kiesling, RN, BSN, Missouri Department of Health & Senior Services

Rachel Lee, PhD, Texas Department of State Health Services

Jennifer Macdonald, RN, BSN, MPH, Virginia Department of Health

Joanne Mei, PhD, Centers for Disease Control and Prevention

Richard Olney, MD, MPH, California Department of Public Health

Debi Sarkar, MPH, Health Resources and Services Administration

Jackie Seisman, MPH, Genetic Alliance

Susan Tanksley, PhD, Texas Department of State Health Services

Santosh Shaunak, Washington State Department of Health

Beth Vogel, MS, CGC, New York State Department of Health


About This ConferenceThe 2017 APHL Newborn Screening and Genetic Testing Symposium (NBSGTS) will address state, national and international newborn screening, genetic testing and policy issues important to public health newborn screening systems. The meeting will emphasize reports from around the globe, the challenges they face, and the data they have generated, as done in previous years. Topics include molecular technologies, current and upcoming conditions, quality improvement, communicating with families and the public and short and long-term follow-up.

The program includes poster and platform presentations drawn from the submitted abstracts, invited oral presentations, exhibits and a Meet the Manufacturers session. Input and participation by parents and advocacy organizations is encouraged.

The purpose of this symposium is to enhance participant knowledge of national and international newborn screening and genetics as related to emerging laboratory technologies, follow-up, candidate conditions, quality improvement and clinical outcomes.

The major learning goals of this symposium are:

• Discuss and evaluate quality assurance and quality control measures for newborn screening laboratories

• Evaluate the effectiveness of current newborn screening and genetics follow-up programs

• Describe state and international experiences with candidate conditions and clinical outcomes in newborn screening

Who will benefit from attending this conference?Newborn screening and genetics laboratory professionals, newborn screening and genetics program personnel and counselors, students, health care practitioners or other maternal and child health service providers, public health nurses, specialists, public health laboratory directors, and other healthcare professionals involved with newborn screening and genetic testing issues and follow-up.

General InformationThe 2017 APHL NBSGTS begins with two roundtables at 7:30 am, Sunday, September 10 followed by the Welcome Session at 8:30 am.

Posters will be displayed from Sunday afternoon, September 10 through 4:00 pm on Tuesday, September 12. Dedicated viewing times (with authors present) will be during Sunday’s Welcome Reception from 6:00 pm – 6:30 pm and during Tuesday’s lunch from 12:30 pm – 1:00 pm.

The Exhibit Hall is open Sunday, September 10 from 3:30 pm – 7:00 pm, Monday, September 11 from 10:00 am – 4:30 pm and Tuesday, September 12 from 10:00 am – 4:00pm.

All general sessions will take place in the Grand Ballroom. The exhibit hall, posters, breaks and lunch will take place in the Grand Salon just across the hall.


Location/HotelThe 2017 APHL NBSGTS is being held at the Hilton New Orleans Riverside Hotel at 2 Poydras St., New Orleans, LA 70130, 504.561.0500. The hotel is located in downtown New Orleans on the Mississippi River. It is just steps away from the French Quarter with easy access to numerous restaurants and shops.

RegistrationThe registration fee is $550. You may only register onsite at this time.

APHL’s Federal ID number is 52-1800436. Cancellation policy: Registration cancelled 30 days prior to the symposium will be refunded less a $100 administrative fee. Registrations cancelled less than 30 days prior to the symposium will not be refunded.

Optional Tour of the Louisiana State Newborn Screening LaboratoryAn optional tour of the Louisiana State Newborn Screening Laboratory has been arranged for Wednesday afternoon, September 13. This tour is currently full. Please meet near the symposium registration desk by 12:20 pm. The bus will leave promptly at 12:30 pm and will return no later than 7:00 pm. Lunch will be provided. Last minute replacements may occur if those with reservations do not show.

Consent to Use Photographic ImagesRegistration and attendance at or participation in APHL meetings and other activities constitutes an agreement by the registrant to APHL’s use and distribution (both now and in the future) of the registrant’s or attendee’s image or voice, without compensation, in photographs, videotapes, electronic reproductions and audiotapes of such events and activities.

P.A.C.E.® Continuing Education Credits APHL is an approved provider of continuing education programs in the clinical laboratory sciences through the American Society of Clinical Laboratory Science (ASCLS) P.A.C.E.® program. Attendees may earn up to 20.5 P.A.C.E.® credits by attending the entire symposium. Florida and genetic counselor CEUs will also be offered.

Certified Public Health Recertification Credits APHL is an approved provider of Certified in Public Health (CPH) recertification credits through the National Board of Public Health Examiners (NBPHE). Attendees have the opportunity to earn up to 20 hours of credit by attending the entire symposium. APHL will not issue certificates of CPH credits earned. The attendee is responsible for keeping track of the hours earned.


Continuing Medical Education/Continuing Nursing Education Credits CMEs and CNEs (up to 20 credit hours) will be provided. Please refer to the tote bag insert for more information.

Wireless Internet in the Meeting SpaceComplimentary wireless internet is provided in our meeting space thanks to the generosity of Biogen. Connect to “PSAV_Event_Solutions” and then use the password “NBSSAINTS”.

Symposium Mobile AppAccess all the detailed information about sessions, exhibitors and poster abstracts at your fingertips before the meeting and onsite. Plan your experience with the My Show feature. Receive alerts and reminders onsite.

The app includes these useful features:

• Interactive floor plans of the hotel and exhibit for easy navigation

• My Show, where one can personalize their experience by tagging sessions, exhibitors, city destinations and create notes

• Alerts, reminders or changes about the symposium

• APHL Blog daily symposium summary and other social media

• Speaker and sponsor profiles

To get the app, Search for APHL in the Apple or Google Play stores, or go to www.aphl.org/app in your device’s browser.

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SATURDAY, SEPTEMBER 93:00 pm – 7:00 pmRegistration1st Floor Registration

SUNDAY, SEPTEMBER 107:00 am – 5:45 pmRegistration1st Floor Registration

7:00 am – 9:00 amCoffeeChemin Royale

7:30 am – 8:15 am

Roundtables Navigating the Legal, Policy and Ethical Landscape of Adding Conditions to the State Newborn Screening PanelGrand Ballroom AThere are many challenges with late-onset conditions that impact the benefit obtained by newborn screening. One notable challenge is the increased costs of maintaining the newborn screening program due to the need for additional resources for long-term follow-up for these conditions. The Iowa NBS program seeks to address this issue by utilizing a deliberative community engagement model to convene stakeholders in providing recommendations to the program on management of its screening panel.

• Kimberly Noble Piper, RN, BSN, CPH, CPHG, Iowa Department of Public Health

Working with Advocates: Breaking Down Barriers and Building BridgesGrand Ballroom B• Amy Gaviglio, MS, CGC, Minnesota Public Health Laboratory Division

APHL’s Legal and Legislative Issues in Newborn Screening (LLINBS) Workgroup has embarked on a project to assess real and perceived barriers to advocate engagement, provide assistance and guidance in overcoming these barriers, and develop a toolkit on how best to engage and interact with different types of advocate groups. In this interactive session, state newborn screening programs will have the opportunity to share their experiences, ideas, and challenges pertaining to engaging and interacting with advocacy groups.


Sunday, September 10

8:30 am – 9:00 am

Welcome SessionGrand Ballroom CDModerators: Cheryl Harris, MPH, Louisiana Department of Health

Patrick Hopkins, Missouri State Public Health Laboratory

• Melinda Richard, Deputy Assistant Secretary, Louisiana Department of Health• Jelili Ojodu, MPH, Association of Public Health Laboratories

9:00 am – 10:30 am

Session 1: Current Recommended Uniform Screening Panel (RUSP) Conditions on State Newborn Screening PanelsGrand Ballroom CDThis session will discuss progress made in screening implementation of disorders on the RUSP, including X-linked Adrenoleukodystrophy and Pompe diseases. National survey results on the current status of alpha thalassemia screening in United States will be highlighted. A study on the association between newborn treatment with therapeutic hypothermia and elevated TSH levels on NBS reports will also be discussed.

Day One588-834-17, 6.0 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Describe strategies to improve alpha thalassemia detection and reporting• Discuss one state’s experience in method validation and screening for X-ALD• Evaluate results covering a range of variants in the GAA gene for Pompe disease

screening• Describe how implementing an electronic shipping system can support timeliness

improvement• Discuss the benefits of a NewSTEPs Site Review for state newborn screening

programs to identify strengths and opportunities for improvement• Evaluate the role of outreach and data visualization in improving newborn

screening timeliness• Evaluate the role of population screening in helping to advance public health • Compare and contrast how newborn screening differs from other population screening • Describe how newborn screening differs from diagnostic testing• Describe one state’s experience in removing a disorder from their screening panel• Evaluate findings from a pilot study for screening of CMV and DMD • Assess a multiplex screening method for SMA, SCID, and X-linked

Agammaglobulinemia



Moderators: Joanne Mei, PhD, Centers for Disease Control and Prevention Eric Blank, DrPH, Association of Public Health Laboratories

Detecting and Reporting Alpha Thalassemia in Newborns• Tim Davis, Washington State Public Health Laboratory

Connecticut’s Experience with Validation and Screening for X-linked Adrenoleukodystrophy Using a Negative Ion-Mode LC-MS/MS Analysis Method• Adrienne Manning, Connecticut Department of Public Health Laboratory

Newborn Screening for Pompe Disease in New York State Identifies a Wide Spectrum of Variants in the GAA Gene• Colleen Stevens, PhD, New York State Department of Health

Newborns with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia Have Elevated TSH Levels on Newborn Screening• Richard Parad, MD, MPH, Brigham and Women’s Hospital

10:30 am – 11:00 amBreakChemin Royale

11:00 am – 12:30 pm

Session 2: Quality Improvement and Assurance Activities in Newborn ScreeningGrand Ballroom CDThis session will feature presentations on activities targeted toward quality improvement and quality assurance of newborn screening processes. A study comparing newborn screening results in matched initial unsatisfactory specimens with acceptable repeat specimen cases in New Jersey will be discussed, as well as a summary of the data reports from NewSTEPs Site Review activities.

Moderators: Patrick Hopkins, Missouri State Public Health Laboratory Patricia Hunt, Texas Department of State Health Services

Implementation of a New Electronic Shipping System to Improve Timeliness• Scott Shone, PhD, RTI International

Infographics and Outreach Used to Improve Newborn Screening Timeliness• Ashley Comer, State Hygienic Laboratory at the University of Iowa



SCID Screening and Diagnostic Uncertainty: The California Experience Since 2010• Stanley Sciortino, PhD, California Department of Public Health

Analyzing Patterns in NewSTEPs Site Review Recommendations: The Big Picture for Newborn Screening Programs• Yvonne Kellar-Guenther, PhD, Colorado School of Public Health

The Relationship Between Newborn Screening Unsatisfactory Specimens and Unsatisfactory Results• Miriam Schachter, PhD, New Jersey Department of Health

12:30 pm – 2:00 pmLunch (on your own)

2:00 pm – 3:30 pm

Keynote Session: Panel Discussion Grand Ballroom CD

The Big Picture for Population Screening: Lessons from Leaders

This session will provide perspectives on lessons learned from other types of population screening in maternal and child health. An overview of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) activities will also be discussed in the context of developing screening recommendations when evidence is sparse and considering input from advocates, specialists, primary care providers, public health programs and legislators.

Moderator: Susan Tanksley, PhD, Texas Department of State Health Services

• Joseph Bocchini, Jr., MD, Louisiana State University Health Sciences Center Shreveport• Alex Kemper, MD, Nationwide Children’s Hospital

3:30 pm – 4:00 pmBreak in the Exhibit HallGrand Salon



3:30 pm – 7:00 pmExhibit Hall Open Grand SalonPosters Available for Viewing (Posters P1 - P37 are on the left side of the hall and P-38 - P-142 are on the right)

4:00 pm – 5:30 pm

Session 3: Past, Present and Future Newborn Screening ConditionsGrand Ballroom CDThere have been considerable advances in the development of new therapies for complex genetic conditions. The availability of these therapies accelerates the need for the development of technologies for screening. This session will focus on implementation efforts for SMA and DMD. An overview of Michigan’s experience in removing conditions from its panel will be discussed in detail.

Moderators: Rodney Howell, MD, University of Miami Michele Caggana, ScD, FACMG, New York State Department of Health

Removing Short-chain Acyl-CoA Dehydrogenase Deficiency and Isobutyryl-CoA Dehydrogenase Deficiency from the Newborn Screening Panel: Michigan’s Experience• Kristy Karasinski, MPH, Michigan Department of Health and Human Services

Development of a Multiplex Real-time PCR Newborn Screening Assay to Simultaneously Identify Spinal Muscular Atrophy, Severe Combined Immunodeficiency, and X-linked Agammaglobulinemia• Mei Baker, MD, FACMG, Wisconsin State Laboratory of Hygiene

Implementation of Newborn Screening for Duchenne Muscular Dystrophy (DMD)• Michele Lloyd-Puryear, MD, PhD, Parent Project Muscular Dystrophy

Congenital CMV — A Pilot Study• Maggie Dreon, MS, CGC, Minnesota Department of Health



5:30 pm – 7:00 pm

Welcome Reception in the Exhibit HallGrand SalonBeverages sponsored by Astoria-Pacific, Inc

6:00 pm – 6:30 pmPoster authors available to discuss their postersGrand Salon

7:30 pm – 9:00 pmShort-term Follow-up MixerGrand Ballroom A


Monday, September 11

Innovate!Monday, September 11, 7:30 am – 8:15 am

Baebies, Inc. • Prince of WalesReducing the Burden: Baebies’ Complete Solution to LSD ScreeningBaebies believes that everyone deserves a healthy start. Lysosomal Storage Diseases (LSDs) are gaining traction in NBS programs, due in large part to the addition of Pompe and MPS I to the RUSP and state legislatures mandating population-wide LSD NBS. Baebies’ Innovate! session will focus on a brief LSD NBS history, the current state of screening, including an update from the Michigan NBS Lab which is currently using SEEKER™, and exciting announcements of how Baebies continues to reduce the burden for families and newborn screening labs. Join Baebies’ Innovate! session over breakfast and a chance to win an iPad.

Speakers: Candice Brannen, PhD, Director of Lab Products, Baebies David Millington, PhD, Professor Emeritus of Pediatrics, Duke University School of Medicine Edwin Naylor, PhD, Adjunct Professor of Pediatrics, Medical University of South Carolina Eleanor Stanley, Metabolic Unit Manager, Newborn Screening Laboratory, Michigan

Department of Health and Human Services Deeksha Bali, PhD, Professor of Pediatrics, Department of Pediatrics, Duke University

School of Medicine

OZ Systems • Marlborough BYou Tell Us: Could This Software Improve Timeliness and Quality for Your NBS Program?Check out brand new software that consolidates all newborn and specimen information to improve accuracy and efficiency for hospitals, labs, programs and providers. Would it reduce errors and save time if cards were filled out directly from the facility Electronic Health Record – instead of hand-written? What if card and courier labels and manifests were all automatically generated? Would it reduce effort if all demographic data arrived in your LIMS before the cards are delivered? Would results be expedited if you were alerted when a specimen is late – and where it is right now? This is all available today using the OZ Newborn Screening Suite, an integrated, configurable, standards-based solution that provides a collection-to-results audit trail and eliminates gaps. OZ Systems, provider of baby-centric newborn screening solutions for 20 years, has teamed up with STACS DNA, provider of Track-Kit sample tracking, to deliver these NBS solutions for the 21st century.

Speakers: Terese Finitzo, CEO, OZ Systems Lura Daussat, Account Manager, OZ Systems Heather MacIntosh, VP Marketing, STACS DNA

PerkinElmer • Marlborough AQSight® 210 MD System for Clinical Diagnostic Testing: Learn how the QSight 210 MD System can run more analytes in less time. Hear about how the remote instrument diagnostics software and a modular mass spectrometer design result in less down time for your lab.

Speaker: Jonathan Rehnberg, PerkinElmer


MONDAY, SEPTEMBER 11

7:00 am – 5:45 pm

Registration1st Floor Registration

7:00 am – 8:00 amCoffee and Continental BreakfastMarlborough Foyer

7:30 am – 8:15 am

Innovate!(formerly Industry Workshops) (2nd floor)

Baebies, Inc.Prince of Wales

OZ Systems Marlborough B

PerkinElmerMarlborough A


8:30 amMoment of Silence in Remembrance of September 11



8:30 am – 10:00 am

Joint Follow-up and Quality Assurance/Quality Control Session: Cut-offsGrand Ballroom CDThis session will cover presentations relating to both follow-up and quality assurance/quality control issues, with a focus on cut-off management and reduction of false negative and false positive results. Effects of gestational weight and age on enzyme activity will be discussed in detail, as well as median normalization of analyte data.

Moderators: Adrienne Manning, Connecticut Department of Public Health Laboratory Mike Ramirez, State Hygienic Laboratory at the University of Iowa

Day Two588-835-17, 6.0 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Discuss laboratory methods to achieve greater accuracy in NBS results by

reducing false negatives and false positives • Describe several analytical tools to improve screening for lysosomal storage

disorders (LSDs)• Discuss and evaluate standardization of testing data using multiples of the

median (MoMs)• Identify factors that may impede or promote timeliness of NBS specimen collection• Describe the strategies implemented in Alaska, Utah and Puerto Rico for

improving timeliness of newborn screening• Assess the value of university partnerships in developing tools for analysis and

reporting of newborn screening data• Describe one state’s strategies to improve follow-up outcomes through

partnerships with home visiting nurses• Describe and assess the impact of sequencing data on follow-up for MPS I in

North Carolina• Describe long-term follow-up efforts and their impact on health outcomes for

patients with hemoglobinopathies in California• Assess the costs and benefits of implementing screening for x-ALD• Summarize updates to the national newborn screening contingency plan and

evaluate how the updated plan differs from the original plan• Identify at least two strategies to address existing and potential health disparities

in the newborn screening system



A False Negative CPTII Case: Using the (C16+C18:1)/C2 Ratio to Improve both FN and FP Metrics• Mary Seeterlin, PhD, Michigan Department of Health & Human Services

Impact of Post-analytical Interpretive Tools on Newborn Screening for Three Lysosomal Disorders: First Year Prospective Experience in Kentucky• Dietrich Matern, MD, PhD, Mayo Clinic

Comparison of Traditional Fixed Cutoffs to Use of Collaborative Laboratory Integrated Reports (CLIR) Tools in Screening for Pompe Disease and Krabbe Disease• Joseph Orsini, PhD, New York State Department of Health

North Carolina Mucopolysaccharidosis Type I (MPS I) Pilot Study: Screening for a Single Lysosomal Storage Disorder • Jennifer Taylor, PhD, RTI International

Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance• Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa

10:00 am – 10:30 amBreak in the Exhibit HallGrand Salon

10:00 am – 4:30 pmExhibit Hall Open Grand SalonPosters Available for Viewing (Posters P1 - P37 are on the left side of the hall and P-38 - P-142 are on the right)

10:30 am – 12:00 pm

Joint Follow-up and Quality Assurance/Quality Control Session: Timeliness in Newborn ScreeningGrand Ballroom CDThis session will feature presentations from various states regarding recent newborn screening timeliness improvements, highlighting their challenges, lessons learned, and accomplishments

Moderators: Inderneel Sahai, MD, New England Newborn Screening Program Sara Denniston, Oregon State Public Health Laboratory



Partnering with a University Data Science Department to Develop Innovative Tools for the Analysis and Reporting of Newborn Screening Data• Rhonda West, Virginia Division of Consolidated Laboratory Services

It’s Time to Be On Time• Sulay Rivera, PhD, MS, Puerto Rico Newborn Screening Program

The Impossible Is Possible: Improving Timeliness in Alaska’s Newborn Bloodspot Screening• Sabra Anckner, Alaska State Division of Public Health

Towards Improved Timeliness, Accuracy, and Operational Efficiency: Utah Newborn Screening Program’s Journey• Andreas Rohrwasser, PhD, MBA, Utah Department of Health

CQI Texas: Improving Timeliness Through a Systematic Investigation of Process Workflows• Brendan Reilly, Texas Department of State Health Services

12:00 pm – 2:00 pmAwards Lunch and CeremonyGrand Ballroom AModerator: Scott Becker, MS, Association of Public Health Laboratories

The Harry Hannon Laboratory Improvement Award in Newborn Screening honors a person who has made significant contributions in assuring the quality of testing, enhancing the specificity of tests, or establishing new creative laboratory approaches and technologies (for full criteria, see the NBSGTS app).

The George Cunningham Visionary Award in Newborn Screening honors a person who has made the greatest contribution to expanding or improving the screening of newborns by public health agencies in one or more states. The contribution of the recipient must have had a direct effect in improving the quality of life of newborns and their families.

The Judi Tuerck Newborn Screening Follow-up and Education Award The Judi Tuerck Newborn Screening Follow-up and Education Award honors a person who has made significant contributions in enhancing the caliber of the newborn screening system, improving follow-up and education, or development or enhancement of long-term follow-up strategies (for full criteria, see the NBSGTS app).



2:00 pm – 3:30 pm

Session 4: Follow-up Activities in Newborn ScreeningGrand Ballroom CDThis session will explore some of the innovative ways of enhancing outcomes for newborns with abnormal screening results. A variety of programs and disorders will be included.

Moderators: Carol Johnson, University of Iowa Hospitals and Clinics John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratory

High Presumptive Positive Rates in Neonatal ICU Babies: The Texas Experience and How to Fix It!• Lori Fitzgerald, MSN, Texas Department of State Health Services

North Carolina Mucopolysaccharidosis I (MPS I) Pilot Study: How Incorporating Sequencing Data Impacts Follow-up• Lisa Gehtland, MD, RTI International

An Update on Newborn Screening for Adrenoleukodystrophy in New York State: A Review of Management Protocol Changes and Confirmed Cases• Beth Vogel, MS, CGC, New York State Department of Health

Long-Term Follow-Up of Sickle Cell Disease in California• Patricia McLendon, MPH, California Department of Public Health

3:30 pm – 4:00 pmBreak in the Exhibit HallGrand Salon

4:00 pm – 5:30 pm

Session 5: Financial, Legal, Ethical, Policy and Social Implications (FLEPSI)Grand Ballroom CDThis session will provide perspectives from state programs on issues surrounding storage and use of residual dried blood spots for newborn screening as well as a discussion of economic and feasibility studies for certain conditions. An overview of the updated national newborn screening contingency plan CONPLAN will be highlighted.

Moderators: Richard Olney, MD, MPH, California Department of Public Health Sue Berry, MD, University of Minnesota



Benefit-Cost Analysis for Adding Newborn Screening for X-linked Adrenoleukodystrophy• John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratory

Development of a State Condition-readiness Tool for Disorders Not on the Recommended Uniform Screening Panel• Kristy Karasinski, MPH, Michigan Department of Health and Human Services

Updating the National Newborn Screening Contingency Plan to Facilitate Preparedness for Newborn Screening• Scott Shone, PhD, RTI International

A Systematic Review of the Research Uses of Residual Newborn Screening Dried Blood Spots: A Scoping Protocol • Erin Rothwell, PhD, CTRS, University of Utah

Equality and Equity in Newborn Screening• Amy Gaviglio, MS, CGC, Minnesota Department of Health• Aaron Goldenberg, PhD, Case Western Reserve University

6:00 pm – 7:30 pm

Meet the Manufacturers SessionGrand Ballroom BLight hearted presentations from exhibitors along with snacks and beverages.

6:00 pm Agena Bioscience

6:15 pm OZ Systems

6:30 pm Astoria-Pacific, Inc.

6:45 pm Baebies, Inc.

7:00 pm Cambridge Isotope Laboratories

7:15 pm PerkinElmer

7:30 pm – 9:00 pm

Follow-up Forum on 2017 Gene Sequencing in Public Health NBSGrand Ballroom A


TUESDAY, SEPTEMBER 12

7:00 am – 5:15 pm


7:00 am – 9:00 amCoffeeChemin Royale & Marlborough Foyer

7:30 am – 8:15 am

Roundtables

Is a Voluntary Panel of Non-RUSP Conditions a Viable Future for Newborn Screening?Grand Ballroom AThis roundtable session will provide an overview on efforts to implement a voluntary screening panel for conditions that are not on the Recommended Uniform Screening Panel (RUSP). Participants will have the opportunity to discuss the desirability and feasibility of a secondary panel of conditions offered in conjunction with standard newborn screening.

• Don Bailey, PhD, RTI International

What’s Next? Follow Up on Best Practices from the Beyond the Bloodspot: Education and Engagement SummitGrand Ballroom BThis roundtable session will involve participants working together to identify support needs and priorities for educational efforts towards educators, policymakers, advocates and funders of newborn screening education activities. The session will highlight best practices that increase family and healthcare provider involvement, as identified from the Beyond the Bloodspot: Education and Engagement Summit held in June 2017.

• Jackie Seisman, MPH, Genetic Alliance

Newborn Screening for Alpha ThalassemiasMarlborough ABThe APHL Hemoglobinopathy Lab workgroup surveyed state newborn screening programs to ask about testing methods and types of alpha thalassemia reported. This roundtable session will provide participants with the opportunity to discuss barriers and challenges in screening for alpha thalassemia, with the goal of identifying gaps in screening for alpha thalassemia and aid future educational initiatives on the subject.

• M. Christine Dorley, MSP, BS, MT(ASCP), Tennessee Department of Health


Tuesday, September 12

8:30 am – 10:00 am

Session 6: International Perspectives in Newborn ScreeningGrand Ballroom CDThis session will showcase international newborn screening efforts underway in China, Australia, the Philippines and the Netherlands.

Moderators: Brad Therrell, PhD, National Newborn Screening & Global Research Center Enzo Ranieri, PhD, Women’s & Children’s Hospital, Australia

Neonatal Screening of Duchenne Muscular Dystrophy In Zhengjiang, China• Guilig Qian, Zhejiang University School of Medicine, China

Timeliness of Newborn Screening Activities in the Mindanao Region• Conchita Abarquez, MD, DPPS, Southern Philippines Medical Center, The Philippines

The Importance of Partnerships: Strengthening Newborn Bloodspot Screening in Victoria, Australia• Rebecca Doherty, Victorian Department of Health and Human Services, Australia

Day Three588-836-17, 5.5 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Assess the importance of partnerships in strengthening newborn screening efforts• Discuss progress made toward improving timeliness of newborn screening system

in Philippines• Evaluate ethical considerations for X-ALD screening as well as the implications for

expanding a screening program• Discuss strategies to improve communication of negative newborn screening results

to providers and families• Assess parental attitudes and ethical considerations regarding newborn screening

for late onset disorders• Describe Minnesota’s experience with storytelling and its impact on newborn

screening• Apply guidelines from a Health Level 7 (HL7) implementation guide for electronic

messaging• Discuss challenges and benefits of implementing and improving upon electronic

messaging• Identify factors to consider in implementing statewide implementation of electronic

demographics and point-of-care reporting



Preparing to Expand the National Newborn Bloodspot Screening Program in the Netherlands with Fourteen Conditions• Marleen Jansen, PhD, National Institute for Public Health and the Environment,

The Netherlands

Screening on X-ALD in The Netherlands: An Ethical Perspective• Eugenie Dekkers, National Institute for Public Health and the Environment,

The Netherlands

10:00 am – 10:30 amBreak in the Exhibit HallGrand Salon

10:00 am – 4:00 pmExhibit Hall OpenGrand SalonPosters available for viewing (Posters P1 - P37 are on the left side of the hall and P-38 - P-142 are on the right)

10:30 am – 12:00 pm

Session 7: Communicating with Families and the Public Grand Ballroom CDMany state programs encounter issues surrounding educating parents on newborn screening as well as effectively engaging the public in understanding the goals of newborn screening. This session will provide perspectives on how to improve communication with families and the public. The importance of storytelling by families impacted by newborn screening will also be highlighted.

Moderators: Natasha Bonhomme, Genetic Alliance Amy Gaviglio, MS, CGC, Minnesota Department of Health

MinneStories: The Importance of Newborn Screening Storytelling• Sondra Rosendahl, MS, CGC, Minnesota Department of Health

Improving Communication of Negative Newborn Screening Results• Whitney Thompson, University of Minnesota



Assessing Parental Attitudes About Newborn Screening for Late Onset Disorders• Sylvia Mann, MS, CGC, Western States Genetic Services Collaborative

Redefining Public Engagement in Newborn Screening and Its Impact on Education and Policy• Aaron Goldenberg, PhD, Case Western Reserve University

12:00 pm – 1:30 pmBox Lunch (in the Exhibit Hall)Grand SalonVisit the exhibitors and posters

12:30 pm – 1:00 pmPoster authors available to discuss their postersGrand Salon

1:30 pm – 3:00 pm

Session 8: Parent/Patient PanelGrand Ballroom CDThis session will feature families affected by genetic disorders. They will present their stories as they choose and will not have a script. The disorders represented come from the Recommended Uniform Screening Panel (RUSP), secondary targets, and disorders under investigation.

Moderators: Hans Andersson, MD, Hayward Genetics Center Jackie Seisman, MPH, Genetic Alliance

• Kevin Alexander, PKULife.tv (patient with Phenylketonuria)• Jessica Smart (parent of child with late-onset Pompe disease)• Allison Wood (parent of child with Glutaric Acidemia, Type 1)

3:00 pm – 4:00 pmBreak in the Exhibit Hall with raffle drawing at 3:30pmGrand Salon



4:00 pm – 5:00 pm

Session 9: Health Information Technology Grand Ballroom CDElectronic data transfer is on the horizon for all newborn screening programs. This session will provide perspectives from Minnesota, Washington and Texas on implementing data transfer, as well as an overview of the HL7 implementation guide.

Moderators: Brendan Reilly, Texas Department of State Health Services Willie Andrews, Virginia Division of Consolidated Laboratory Services

Understanding an HL7 Implementation Guide: A Primer on IT Nerd-dom for Newborn Screening Nerds• Brendan Reilly, Texas Department of State Health Services

Challenges and Benefits of Implementing Electronic Messaging in Newborn Screening Laboratories• Ashleigh Ragsdale, MPH, Washington State Public Health Laboratory

Baby’s First Message: Next Steps and Lessons Learned After Achieving Statewide Implementation of Electronic Demographics and Point-of-Care Result Reporting• Amy Gaviglio, MS, CGC, Minnesota Department of Health

6:00 pm – 10:00 pmOff-site Evening SocialSponsored by PerkinElmer, Inc.


WEDNESDAY, SEPTEMBER 13

7:30 am – 12:30 pm



7:30 am – 8:30 am

International Society for Neonatal Screening (ISNS) Membership MeetingMarlborough B

8:30 am – 10:00 am

Session 10: Molecular Technology in Newborn ScreeningGrand Ballroom CDThe focus of this session is on national efforts to improve molecular testing for several disorders through next generation sequencing, including Severe Combined Immunodeficiency (SCID) and Cystic Fibrosis. An algorithm for targeted next generation sequencing for dried blood spots will also be highlighted.

Day Four588-837-17, 3.0 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Evaluate findings from validation of a 2nd tier NGS panel for SCID• Discuss the feasibility of implementing a 3rd tier next generation sequencing

assay for CF• Summarize Maryland’s experience with screening for SCID• Evaluate findings of a feasibility study for screening of SMA• Discuss and evaluate assays for screening of SMA• Discuss challenges and barriers for the implementation of SMA into newborn

screening programs


Wednesday, September 13

Moderators: Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa Rachel Lee, PhD, Texas Department of State Health Services

A Targeted Next Generation Sequencing (tNGS) Screening Assay for Menkes Disease and Its Implications for Primary DNA-based Newborn Screening• Richard Parad, MD, MPH, Brigham and Women’s Hospital

Design and Validation of a 2nd Tier Next Generation Sequencing (NGS) Panel for Newborn Screening for Severe Combined Immunodeficiency Disease• Colleen Stevens, PhD, New York State Department of Health

Implementing Next Generation Sequencing as a Third-Tier Newborn Screen for Cystic Fibrosis in New York State• Denise Kay, PhD, New York State Department of Health

Challenges of Severe Combined Immunodeficiency Screening in a Two-Screen State• Adam Coleman, PhD, Maryland Laboratories Administration

10:00 am – 10:30 amBreakChemin Royale

10:30 am – 12:00 pm

Session 11: Spinal Muscular AtrophyGrand Ballroom CDThe session will discuss progress made in screening and treating SMA internationally, with a focus on assay methods, as well as clinical considerations and challenges. Participants will have a better understanding for how to implement screening for SMA into their newborn screening programs.

Moderators: Art Hagar, PhD, Georgia Public Health Laboratory Colleen Stevens, PhD, New York State Department of Health

Newborn Screening for Spinal Muscular Atrophy: Current and Alternative Assay Methods• Kristina Mercer, MD, MPH, Centers for Disease Control and Prevention

Evaluation of Multiplexing Spinal Muscular Atrophy Identification with a Laboratory-Developed Severe Combined Immunodeficiency Assay in Minnesota• Carrie Wolf, MBS, Minnesota Department of Health


Wednesday, September 13

Spinal Muscular Atrophy Screening in New York State: Feasibility and Prospective Pilot Study• Denise Kay, PhD, New York State Department of Health

Clinical Challenges of Providing Nusinersen for Spinal Muscular Atrophy and the Implications for Newborn Screening• Jennifer Kwon, MD, MPH, FAAN, University of Rochester Medical Center

12:00 pmAdjournment

12:30 pm – 7:00 pmOptional Tour of the Louisiana State Newborn Screening Laboratory(Pre-registration is required)


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Exhibit Hall ScheduleSeptember 10-12, 2017Grand Salon

Sunday, September 10 3:30 pm – 7:00 pm Hall Open 3:30 pm – 4:00 pm Break 5:30 pm – 7:00 pm Welcome Reception

Monday, September 11 10:00 am – 4:30 pm Hall Open 10:00 am – 10:30 am Break 3:30 pm – 4:00 pm Break

Tuesday, September 12 10:00 am – 4:00 pm Hall Open 10:00 am – 10:30 am Break 12:00 pm – 1:30 pm Box Lunch 3:00 pm – 4:00 pm Break (Raffle Drawing 3:30 pm)

Meet the Manufacturers ScheduleMonday, September 116:00 pm – 7:30 pmGrand Ballroom B

6:00 pm Agena Bioscience

6:15 pm OZ Systems

6:30 pm Astoria-Pacific, Inc

6:45 pm Baebies, Inc.

7:00 pm Cambridge Isotope Laboratories

7:15 pm PerkinElmer


Exhibitors

Visit the Exhibitors! Win Prizes!Visit with the exhibitors and win prizes! Take the exhibit raffle card from your tote bag and visit each exhibit booth. Ask one of the booth personnel to sign their initials in the box corresponding to their booth number. When all of the boxes are filled, turn the card in at the registration desk. Cards must be turned in at the registration desk no later than 3:00 pm on Tuesday, September 12. Be sure to include your name on the card. Winners of the prizes will be announced starting at 3:30 pm on Tuesday in the exhibit hall. You must be present to win.

PRIZES• Two coach tickets on Delta Airlines to anywhere within the continental United States

• Complimentary registration to the 2019 Newborn Screening & Genetic Testing Symposium

• FitBit Blaze (compliments of Baebies, Inc.)

• Chillax Inflatable Lounger (2) (compliments of OZ Systems)

• One coach ticket on United Airlines to anywhere within the continental United States

• $100 Visa gift card (compliments of Cambridge Isotope Laboratories)

• One coach airline ticket on Delta Airlines to anywhere in the continental United States

• Kindle Paperwhite e-reader with cover (compliments of APHL)

• New Orleans mystery bag (compliments of Linette Granen)

• Two coach tickets on American Airlines to anywhere within the continental United States

• “Making a Difference through Newborn Screening” (DVD) (compliments of the Clinical and Laboratory Standards Institute)

• Apple watch (compliments of EBF, Inc.)

• Laptop Backpack Kit (compliments of RTI International)

We are committed to leveraging future technologies to save more lives and make the healthcare experience smart, honest and caring.

* Track-Kit is a trademark of STACS DNA Inc.

Automating Timeliness in Newborn Screening

888.727.3366 | www.ozsystems.com @OZSystems /OZSystems /OZSystems

OZ Systems partnered with STACS DNA to offer Track-Kit™ specimen tracking. Our collection-to-reporting solution delivers results quicker, simplifies workflow and reduces handoffs. That makes NBS programs more cost-effective, while improving patient safety, automating timeliness using current information technology solutions and standards, and reducing human error. OZ Systems delivers verifiable data and interoperability for more timely and accurate interventions.

Experience the OZ Newborn Screening Suite

at booth 404

Introducing OZ Newborn Screening Suite: End-to-end software solutions for tracking specimens and delivering results faster with less effort.

OZ NANI™Integrates patient demographics from the EHR.

OZ Telepathy™ NBSPrinting labels for specimen cards ensures legible and accurate patient demographics.

OZ ConnectElectronic lab order entry makes the lab aware that a specimen is being collected. Specimen results are sent electronically back to the EHR.

Track-Kit™ from STACS DNA*

Tracks specimens from hospitals to the lab with late delivery alerts. Also tracks storage and card inventory. Global real-time view of state-wide activity.


Exhibitors

EXHIBIT HALLGRAND SALON

Exhibitors200 Illumina, Inc.

201 NBSTRN/NCC

202 RTI International

203 EBF, Inc.

204 Quantabio

208 Astoria-Pacific, Inc.

210 Integrated Software Solutions

212 Microelectronics Systems

215/314 Baebies, Inc.

300 Clinical and Laboratory Standards

Institute

301 Bio-Rad Laboratories

302 United Parcel Service

303 Agena Bioscience

306 Baby’s First Test

307 Waters Corporation

315 APHL NewSTEPs

400 Luminex Corporation

401 Cambridge Isotope Laboratories

402 Sobi

403 Greenwood Genetic Center

404 OZ Systems

409/ 411/413 PerkinElmer

414 CDC

415 Natus Medical, Inc.

Chemin RoyaleRegistration

LobbyRestrooms

203

201

202

204

200

210

212

215 314 315 414 415

208

300

302

306

301

303

307

400

402

401

403

404

409

411

413

EXHIBIT HALLGRAND SALON

Grand Ballroom CD Grand Ballroom B Grand Ballroom A

Table Seating Poster BoardsPoster Boards

Food andBeverage

BiogenChargingStation


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Agena Bioscience Booth 3034755 Eastgate Mall, San Diego, CA 92121 • 858.882.2748 Bronze Circlewww.agenabio.com

Agena Bioscience is the genetic analysis solutions provider that makes genetic testing actionable in a way that is scalable to the growing number of clinical testing labs, allowing for the realization of precision medicine and science, as demonstrated by its 450+ systems sold around the world, 4,000+ scientific publication citations, and adoption by premier institutions around the world. Our mission is to empower the translation of genomic discoveries in oncology, pharmacogenetics and inherited disease into mainstream clinical practice.

APHL Newborn Screening and Genetics Program Booth 3158515 Georgia Ave., Suite 700, Silver Spring, MD 20910 • 240.485.2726www.newsteps.org

The APHL Newborn Screening and Genetics Program offers symposiums, workshops, webinars, access to molecular and quality improvement resources and more. Additionally, the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) provides data, technical assistance and training to newborn screening programs across the country, with the New Disorders Implementation Project providing technical assistance specifically related to MPS I, Pompe and X-ALD.

Astoria-Pacific, Inc. Booths 20815130 SE 82nd Dr., Clackamas, OR 97015 • 503.657.3010 Bronze Circlewww.astoria-pacific.com

Astoria-Pacific presents our SPOTCHECK® products. FDA approved assay, instrumentation and quality control material for screening newborns for Glactosemia, Biotinidase Deficiency, G6PD Deficiency, Congenital Adrenal Hyperplasia, Congenital Hypothyroidism and Phenylketonuria. Our complement of automation options support workflows for any lab. Astoria-Pacific is committed to providing outstanding service and support, your partner in newborn screening.

Baby’s First Test Booth 3064301 Connecticut Ave., Suite 404, Washington, DC 20008 • 202.966.5557www.babysfirsttest.org

Baby’s First Test is the nation’s educational resource center for newborn screening. It informs and empowers families and healthcare providers throughout the newborn screening experience. By increasing awareness, Baby’s First Test offers millions of newborns and their families a chance at a healthy start.

LIST OF EXHIBITORS

http://www.newsteps.org

http://www.astoria-pacific.com

http://www.babysfirsttest.org


Exhibitors

Baebies, Inc. Booth 215, 314615 Davis Dr., Suite 800, Durham, NC 27709 • 919.328.8332 Silver Circlewww.baebies.com Silver Member

Baebies is guided by a vision that everyone deserves a healthy start. We are developing innovative, easy to use and connected products to make life better for millions of babies. The SEEKER™ platform is the first and only platform in newborn screening for lysosomal storage disorders authorized by the FDA.

Biogen Sponsor225 Binney Street, Cambridge, MA 02142 • 781.464.2000www.biogen.com

Through cutting-edge science and medicine, Biogen discovers, develops and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases. Founded in 1978, Biogen is a pioneer in biotechnology, and today the company has the leading portfolio of medicines to treat multiple sclerosis; has introduced the first and only approved treatment for spinal muscular atrophy; and is at the forefront of neurology research for conditions including Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis. Biogen also manufactures and commercializes biosimilars of advanced biologics.

for Inherited Genetic Disease Testing

MassARRAY® System

Vist Agena at APHL Booth #303

[email protected]

1-800-536-3111WWW.ASTORIA-PACIFIC.COM/SPOTCHECK

NEONATAL SCREENING AND DIAGNOSTIC REAGENTS

AFFORDABLE • RELIABLE • PRECISE RESULT ORIENTED • FLEXIBLE • FAST

http://www.baebies.com

http://www.biogen.com


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Bio-Rad Laboratories, Inc. Booth 301235 Linus Pauling Dr., #E, Hercules, CA 94547 • 510.741.4019 Bronze Circlewww.bio-rad.com Platinum Member

Bio-Rad Clinical Diagnostics Group develops, manufactures, sells and supports a large portfolio of products for medical screening and diagnostics. Bio-Rad Laboratories is considered a global leader in thalassemia and sickle cell screening, providing “Gold Standard” automated solutions for newborn, antenatal and premarital screening programs worldwide, for more than 25 years.

Cambridge Isotope Laboratories, Inc. Booth 4013 Highwood Dr., Tewksbury, MA 01876 • 978.749.8000 Bronze Circlewww.isotope.com

Cambridge Isotope Laboratories, Inc. (CIL) has been known since 1981 for manufacturing quality analytical standards. CIL offers stable isotope standards of amino acids and carnitine/acylcarnitines for use in lab developed tests utilizing tandem mass spectrometry. CIL has obtained the CE mark and can manufacture standards to be compliant with ISO 13485.

Innovative FDA Authorized Newborn Screening PlatformFrom heel prick to phone call, SEEKER accelerates delivery

of reported results.

Visit us at booth 215Don’t miss our Innovate! session and booth demo

www.baebies.com

Reliable | Cost Effective | Easy to Use | Incredibly Fast

SEEKER is designed for ease of use and quick implementation.

High throughput laboratory solution that quantitatively measures the activity of lysosomal enzymes from

newborn dried blood spot specimens.Reduced activity of these enzymes may be indicative of

MPS I, Pompe, Gaucher, Fabry.

http://www.bio-rad.com

http://www.isotope.com


Exhibitors

Centers for Disease Control and Prevention Booth 4144770 Buford Hwy NE, Atlanta, GA 30341 • 770.488.7571

CDC’s Newborn Screening and Molecular Biology Branch is devoted to assuring the early and accurate laboratory detection of heritable disorders in newborns through dried blood spot testing.

Clinical and Laboratory Standards Institute (CLSI) Booth 300950 West Valley Road, Suite 2500, Wayne, PA 19087 • 484.588.5936 Bronze Circlewww.clsi.org

CLSI is a not-for-profit membership organization that brings together the varied perspectives and expertise of the worldwide laboratory community for the advancement of a common cause: to foster excellence in laboratory medicine by developing and implementing medical laboratory standards and guidelines that help laboratories fulfill their responsibilities with efficiencies, effectiveness and global applicability.

VARIANT™ nbs Newborn Screening System

Confidence in newborn screening with the ease of HPLC

With VARIANT, achieve the total picture so each baby quickly receives the appropriate care to alleviate any parent’s concern.

Cambridge Isotope Laboratories, Inc.

isotope.com

High-Quality Calibration Standards & Kits

• Amino Acids• Carnitine and Acylcarnitines• Succinylacetones • Steroids• Lysosomal Storage Disorders • Tuning Standards

Enriching Scientific Discovery

Custom Kit Capabilities!

http://www.clsi.org


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EBF, Inc. Booth 203530 Old Sulphur Springs Rd., Greenville, SC 29607 • 864.234.8222 Bronze Circlewww.ebf-inc.com

Eastern Business Forms, Inc. has been a leading provider of newborn screening collection devices for more than 40 years. Our goal is to exceed customer requirements by leveraging our extensive manufacturing experience and providing superior customer service. EBF is the exclusive provider of Whatman 903 filter paper in the United States.

Greenwood Genetic Center Booth 403106 Gregor Mendel Circle, Greenwood, SC 29646 • 800.473.9411www.ggc.org

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational resources and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic and molecular diagnostic testing. We strive to “Give Greater Care” by combining state-of-the-art diagnostics and exceptional service.

Newborn Screening

Browse these and more of our Newborn Screening products at clsi.org/nbs.

NBS04 | Newborn Screening by Tandem Mass Spectrometry

Keep your laboratory up-to-date on new test methods for the detection of metabolic disorders in newborns using tandem mass spectrometry.

NBS07 | Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid α-Glucosidase Activity Assays

Learn about current methods for detection of Pompe Disease using dried blood spot specimens to measure acid α-glucosidase enzyme activity.

Your Starting Point for Pediatric Health

NBS04Newborn Screening by Tandem Mass Spectrometry

This guideline serves as a reference for the multiple activities

related to operating a tandem mass spectrometry laboratory as

part of public and private newborn screening programs.

A guideline for global application developed through the Clinical and Laboratory Standards Institute consensus process.

2nd Edition

NEW!

NBS07Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid α-Glucosidase Activity Assays

This report discusses the detection of Pompe disease (PD) by

population-based newborn screening using dried blood spot

specimens to measure acid α-glucosidase enzyme activity. Classic

infantile-onset PD is a lethal disorder that is not evident at

birth, and therapy effectiveness is improved by presymptomatic

detection.

A CLSI report for global application.

1st Edition

NEW!

903™ Specimen Collection Devices

The first choice in newborn screening for

over 40 years

www.ebf-inc.com

http://www.ebf-inc.com

http://www.ggc.org


Exhibitors

Illumina Booth 2005200 Illumina Way, San Diego, CA 92122 • 858.246.9994 Bronze Circlewww.illumina.com Platinum Member

Illumina provides comprehensive next-generation sequencing solutions to the research, clinical and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data. Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science and beyond.

Integrated Software Solutions Booth 210Suite 701, 3 Spring St., Sydney, NSW 2000 Australia • 61.2.9247.3122 Bronze Circlewww.intsoftsol.com

Integrated Software Solutions is a specialized Laboratory Information System developer with a specific implementation for all aspects of the Newborn Screening Laboratory. OMNI-Lab provides full functionality sample processing including Rules based Disorder logic and Case Management. OMNI-Lab is configured by the lab to meet their own workflow requirements.

Illumina is proud to support the 2017 APHL Newborn Screening and Genetic Testing Symposium

Stop by Booth 200 to learn about how Illumina is redefining NIPT as we know it, and visit: www.illumina.com/nocallrate.

THE LEADING INFORMATION SYSTEM FOR

NEWBORN SCREENING LABORATORIES

OMNI-Lab NBS

• High performance scalable database • Role based security access • Test Management module • Puncher Module • Vendor Independent Interfaces • Inbound/Outbound interfaces • Workflow Automation Business Rules • Case Management and Follow-up • Automatic Notification and Alerts • Quality Management system • Card Scanning with auto-filing • Q-Writer ‘WYSIWYG’ report designer • Report scheduler (email, print, fax, file)

Contact: Web: [email protected] WWW.INTSOFTSOL.COM

http://www.illumina.com

http://www.intsoftsol.com


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Luminex Corporation Booth 40012212 Technology Blvd., Austin, TX 78727 • 513.381.4310 Bronze Circlewww.luminexcorp.com Diamond Member

Luminex is committed to creating innovative, breakthrough solutions to help our customers improve health and advance science worldwide. We serve our customers’ needs in diverse markets including clinical diagnostics, pharmaceutical drug discovery, biomedical research, genomic and proteomic research and personalized medicine.

Microelectronic Systems Booth 212Unit 17, 18 Hinkler Court, Brendale, QLD 4500 Australia • 61.1.3881.1834 Bronze Circlewww.bsdrobotics.com

BSD dried blood spot punchers have been used in newborn screening laboratories for over 25 years. Microelectronic Systems continues a long history in the manufacture and support of BSD punchers worldwide. We provide new instrument sales, technical support and servicing of BSD products through our global distributor network.

http://www.luminexcorp.com

http://www.bsdrobotics.com


Exhibitors

Natus Medical, Inc./Neometrics Booth 4151501 Industrial Road, San Carlos, CA 94070 650.801.7266 Bronze Circlewww.natus.com

Natus provides the Neometrics® line of case management and reporting tools that tightly integrate results for metabolic screening, hearing screening and environmental testing - facilitating rapid follow-up and intervention. Products include Metabolic Screening Database System (MSDS)™, Case Management System (CMS), Lead Follow-up Database System, Internet Case Management (iCMS)™ and our perinatal system - Healthy Women Healthy Babies (HWHB). Natus has expanded the Neometrics® product line to now include healthcare services.

NBSTRN/NCC Booth 2017101 Wisconsin Ave., Suite 1101, Bethesda, MD 20814 • 301.718.9603www.nccrcg.org

The Newborn Screening Translational Research Network (NBSTRN), a contract between ACMG and NICHD, and the National Coordinating Center for the Regional Genetics Networks (NCC), a cooperative agreement between ACMG and HRSA, will be sharing genetic service and newborn screening resources for researchers, healthcare providers, public health professionals and consumers.

OZ Systems Booth 4042201 East Lamar Blvd., Suite 260, Arlington, TX 76006 • 214.631.6161 Bronze Circlewww.oz-systems.com

OZ Systems is an innovator in Global Screening Solutions, bridging crucial information gaps to ensure quality care and timely interventions for patients and those who care for them. We develop end-to-end newborn screening software that reduces human errors and improves patient safety, quality of care and intervention timeliness. We are recognized for interoperability, and innovation in design and partnerships – like our new relationship with STACS DNA. OZ Systems has projects with U.S. and international health care providers and public health agencies.

PerkinElmer Booths 409, 411, 413710 Bridgeport Ave., Shelton, CT 06484 • 203.402.1994 Gold Circlewww.perkinelmer.com Diamond Member

PerkinElmer is a global leader focused on improving the health and safety of people and the environment. Our innovative detection, imaging, informatics and service capabilities, combined with deep market knowledge and expertise, help customers gain greater insights into their science to better protect our environment, our food supply and the health of our families.

http://www.natus.com

http://www.nccrcg.org

http://www.oz-systems.com

http://www.perkinelmer.com

Turning Complexity Into MeaningThe future is in our sight.Visit PerkinElmer at Booth 409 to learn more about:

• QSight® 210 MD System for Complete Mass Spectrometry Solutions

• Sequencing Services and 2nd Tier Molecular Testing Services

• Customer Contracted Manufacturing Services – reliable and high quality materials

• GSP® Instrument – the fully automated platform for work� ow � exibility

• EnLite™ Neonatal TREC System – the complete solution for detecting SCID

• PerkinElmer 226 Sample Collection Device

Products may not be available in all countries including United States and Canada. Please contact your local PerkinElmer representative.

Copyright ©2017 PerkinElmer, Inc. All rights reserved. PerkinElmer is a registered trademark of PerkinElmer, Inc.All other trademarks are the property of their respective owners. 013675_01 PKI


Exhibitors

Quantabio Booth 204100 Cummings Center, Beverly, MA 01915 • 49.173.375 88 22 Bronze Circlewww.quantabio.com Gold Member

Quantabio manufactures the most advanced DNA/RNA amplification reagents available today. Our portfolio continues to set standards in critical PCR- based assay performance and reagent supplier reliability. Our innovative technologies include the popular qScript® reverse transcriptase for reliably generating cDNA suitable for qPCR, and ToughMix® additives for overcoming common PCR inhibitors.

RTI International Booth 2023040 E. Cornwallis Road, Research Triangle Park, NC 27709 • 919.541.7383 Bronze Circlewww.rit.org

RTI International is an independent, nonprofit research institute dedicated to improving the human condition. We combine scientific rigor and technical expertise in social and laboratory sciences, engineering and international development to deliver solutions to the critical needs of clients worldwide.

rti.org/newborn

Center for Newborn Screening, Ethics, and Disability Studies

Booth 202

Are you running molecular tests?

Visit our boothto learn about:

PerfeCTa qPCR ToughMix TREC Assay

MultiplexingCMV, CF, SMA Assays

Booth #

115

http://www.quantabio.com

http://www.rit.org


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Sobi Booth 402890 Winter St., Waltham, MA 02451 • 321.266.9347 Bronze Circlewww.sobi.com

Sobi™ is an international specialty healthcare company dedicated to rare diseases. Our mission is to develop and deliver innovative therapies and services to improve the lives of patients. The product portfolio is primarily focused on haemophilia, inflammation and genetic diseases. Sobi is a pioneer in biotechnology with world-class capabilities in protein biochemistry and biologics manufacturing.

United Parcel Service Booth 30255 Glenlake Parkway NE, Atlanta, GA 3028 • 240.417.4773 Bronze Circlewww.ups.com

UPS, a global leader in logistics, offers a broad range of solutions built to meet the needs of the laboratory community by streamlining the newborn screening process. Our solutions enable faster time in transit for specimen shipments, better visibility through 24/7 tracking solutions, online integration and customized packaging.

Our strong commitment to improving the quality of life for patients with rare diseases guides us throughout our operations.

Sobi is an international specialty healthcare company dedicated to rare diseases.

Sobi is a pioneer in biotechnology with world-class capabilities in protein biochemistry and biologics manufacturing.

For more information please visit www.sobi.com

Sobi is a trademark of Swedish Orphan Biovitrum AB (publ)© 2017 Swedish Orphan Biovitrum AB (publ) – All rights reserved. Sobi, Inc, 890 Winter Street - Suite 200, Waltham, MA 02451

Pioneering inrare diseases

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Exhibitors

Waters Corporation Booth 30734 Maple St., Milford, MA 01757 • 508.482.3953 Bronze Circlewww.waters.com Platinum Member

Waters Corporation creates business advantages for clinical laboratories by delivering medical devices that enable customers to meet the rigorous operational and analytical demands in today’s regulatory environments. The Waters suite of products and services, including an integrated portfolio of pre-analytical products, IVD LC-MS systems, laboratory informatics, as well as technical support and training, help customers optimize laboratory operations, deliver throughput capacity, and ensure regulatory compliance.

WITH MASS SPECTROMETRY, EXPERIENCE MATTERS.

Visit Waters at booth #307 to learn about our flow- injection/mass spectrometry IVD screening solutions and understand why we’ve been a trusted provider for over 20 years.

http://www.waters.com


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GOLD CIRCLE:

BRONZE CIRCLE:

• Agena Bioscience

• Astoria-Pacific, Inc.

• Bio-Rad Laboratories

• Cambridge Isotope Laboratories, Inc.

• Clinical and Laboratory Standards Institute

• EBF, Inc.

• Illumina, Inc.

• Integrated Software Solutions

• Luminex Corporation

• Microelectronic Systems

• Natus Medical, Inc.

• OZ Systems

• Quantabio

• RTI International

• Sobi

• United Parcel Service

• Waters Corporation

SILVER CIRCLE:

EXHIBITORS:

• APHL Newborn Screening & Genetics Program

• Baby’s First Test

• Centers for Disease Control and Prevention

• Greenwood Genetic Center

• NBSTRN/NCC

Visit These Exhibitors in the Exhibit Hall

Special thanks to PerkinElmer for the Tuesday evening social event and general conference support

Special thanks to Biogen for the wireless internet and charging stations

Special thanks to Astoria-Pacific for the Welcome Reception beverages


Poster Abstracts

The full poster and oral abstracts may be found on the symposium website www.aphl.org/nbsgts. The full poster abstracts are also available on the mobile app.

Posters may be viewed in the Grand Salon during exhibit hall hours on Sunday, Monday and Tuesday, September 10–12. Posters 1–37 will be on the left side of the exhibit hall. Posters 38–142 will be on the right side.

P-001The Newborn Screening Translational Research Network: An Update on Efforts to Coordinate Newborn Screening PilotsA. Brower, J. Adelberg, M. Watson and H. Dessie, American College of Medical Genetics and Genomics, Bethesda, MD

Presenter: Amy Brower, American College of Medical Genetics and Genomics, Bethesda, MD, Email: [email protected]

P-002Creating a Shared Infrastructure to Support the Advancement of Rare Disease Research and Newborn ScreeningA. Brower1, J. Loutrel1, M. Kuhlmann2, B. Bowdish1, M. Wagner2, C. Day1, P. White2, M. Watson1 ; 1American College of Medical Genetics and Genomics, Bethesda, MD, 2Children’s Hospital of Cincinnati, Cincinnati, OH

Presenter: Amy Brower, American College of Medical Genetics and Genomics, Bethesda, MD, Email: [email protected]

P-003Developing Regional Models for Genetic ServiceM. Lyon1, A. Keehn1, D. Maiese1, C. Kaye2; 1American College of Medical Genetics and Genomics, Bethesda, MD, 2University of Colorado Denver, Denver, CO

Presenter: Megan Lyon, MPH, Project Manager, NCC, American College of Medical Genetics and Genomics, Bethesda, MD, Email: [email protected]

POSTER ABSTRACTS

http://www.aphl.org/nbsgts

mailto:[email protected]




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P-004Evaluation of Critical Congenital Heart Defects Screening in the Neonatal Intensive Care UnitR. Grazel1, K. Van Naarden Braun2; 1NJAAP/NJDOH, East Windsor, NJ, 2Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Regina Grazel, MSN, RN, BC, APN-C, Program Director, New Jersey Department of Health, CCHD Screening and Infant Zika Surveillance, New Jersey Chapter, American Academy of Pediatrics and NJ Dept of Health, East Windsor, NJ, Phone: 609.577.5002, Email: [email protected]

P-005Results from the 2017 Newborn Screening Molecular Testing SurveyJ. Rosalez, L. Russell, G. Zarbalian, J. Ojodu and D. Kim, Association of Public Health Laboratories, Silver Spring, MD

Presenter: Jacob Rosalez, Senior Specialist, Association of Public Health Laboratories, Silver Spring, MD, Phone: 240.485.3830, Email: [email protected]

P-006Review of Newborn Screening Dried Blood Spot Cards to Inform an Emergency SupplyL. Russell, Association of Public Health Laboratories, Silver Spring, MD

Presenter: Laura Russell, Association of Public Health Laboratories, Silver Spring, MD, Email: [email protected]

P-007New Online Course to Help Laboratory Professionals and Healthcare Providers Improve Pre-analytic Processes of Biochemical Genetic TestingB. Su and K. Breckenridge, Association of Public Health Laboratories, Silver Spring, MD

Presenter: Bertina Su, MPH, Senior Specialist, Association of Public Health Laboratories, Silver Spring, MD, Phone: 240.485.2729, Email: [email protected]






Poster Abstracts

P-008The State of Newborn Screening Systems in the United StatesC. Yusuf1, J. Miller2, T. Wood1, S. Singh1, Y. Kellar-Guenther2, R. Sheller1, G. Zarbalian1, M. Sontag2; 1Association of Public Health Laboratories, Silver Spring, MD, 2Colorado School of Public Health, Aurora, CO

Presenter: Careema Yusuf, MPH, Manager, NewSTEPs, Association of Public Health Laboratories, Silver Spring, MD, Email: [email protected]

P-009Definitions for Medical Intervention and Diagnosis of Cases Identified through Newborn ScreeningC. Yusuf1, M. Sontag2, J. Miller2, S. Singh1, Y. Kellar-Guenther2, J. Ojodu1; 1Association of Public Health Laboratories, Silver Spring, MD, 2Colorado School of Public Health, Aurora, CO

Presenter: Careema Yusuf, MPH, Manager, NewSTEPs, Association of Public Health Laboratories, Silver Spring, MD, Email: [email protected]

P-010Electronic Test Order and Results for Newborn Screening in FloridaK. Kocevar1, J. Butler2, E. Gonzalez Loumiet2; 1Florida Department of Health, Tallahassee, FL, 2UberOps, Tallahassee, FL

Presenter: Christine Urban, Project Manager, UberOps/Florida Public Health Laboratory, Tallahassee, FL, Phone: 970.769.0951, Email: [email protected]

P-011Comprehensive Detection of CFTR Variants using Anchored Multiplex PCR and Next-Generation SequencingM. Hardison1, K. Moore2, P. Roberts2, L. Griffin2, R. Walters2, B. Culver2; 1Baby Genes, Inc., Golden, CO, 2ArcherDX, Inc., Boulder, CO

Presenter: Laura Griffin, PhD, Scientific Editor, ArcherDX, Inc., Boulder, CO, Phone: 303.357.9001, Email: [email protected]

P-012 – Withdrawn






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P-013Benefits of Fast, Affordable, and Comprehensive Next-Generation Sequencing for Newborn Screening, Confirmatory, and Carrier TestingS. Deis, M. Hardison, M. Nemcek and K. Dollerschell, Baby Genes, Golden, CO

Presenter: Siobhan Deis, Laboratory Scientist, Baby Genes, Inc., Golden CO, Email: [email protected]

P-014A Fluorimetric Enzyme Assay Panel for High Throughput Screening of Pompe, MPS I and MPS II on a Single CartridgeR. Ng, C. Graham, R. Singh and V. Pamula, Baebies, Inc., Durham, NC

Presenter: Vamsee Pamula, Baebies, Inc., Durham, NC, Email: [email protected]

P-015Rapid Digital Microfluidic Enzyme Assay Analysis for Pompe Disease Can Shorten the Referral Time and Lead to Faster Treatment InitiationS. Norton, R. Singh and V. Pamula, Baebies, Inc., Durham, NC

Presenter: Vamsee Pamula, Baebies, Inc., Durham, NC, Email: [email protected]

P-016The Use of Multivariate Tools to improve Second-tier Screening Algorithms for Congenital Adrenal Hyperplasia (CAH)G. Sinclair, British Columbia Children’s Hospital, Vancouver, BC, Canada

Presenter: Graham Sinclair, PhD FCCMG, Newborn Screening and Biochemical Genetics Labs, BC Children’s Hospital, Vancouver, British Columbia V6H 3N1, Canada, Phone: 604.875.2345 x7450, Email: [email protected]

P-017Targeted Sequencing of the DMD Gene Enables Rapid Detection and Characterization of Mutations Linked to Duchenne Muscular DystrophyL. Akin, R. Hrdlickova, M. Toloue, D. Fox and J. Nehyba, Bioo Scientific, Austin, TX

Presenter: Radmila Hrdickova, Bioo Scientific (A PerkinElmer Company), Pflugerville, TX, Email: [email protected]







Poster Abstracts

P-018Targeted DNA Sequencing and Customized Analysis of Genes Associated with Lysosomal Storage DiseasesL. Akin, A. Sharma, D. Fox, J. Nehyba, R. Hrdlickova and M. Toloue, PerkinElmer, Austin, TX

Presenter: Radmila Hrdickova, Bioo Scientific (A PerkinElmer Company), Pflugerville, TX, Email: [email protected]

P-019Preliminary Genomic Findings from the BabySeq ProjectR. Parad1, H. Rehm1, P. Agrawal2, I. Holm2, A. McGuire3, T. Yu2, C. Genetti2, S. Fayer1; 1Brigham and Women’s Hospital, Boston, MA, 2Boston Children’s Hospital, Boston, MA, 3Baylor College of Medicine, Houston, TX

Presenter: Richard Parad, MD, MPH, Director of Neonatal Genomic Medicine Program; Attending Neonatologist, Brigham and Women’s Hospital, Boston, MA, Phone: 617.732.7371, Email: [email protected]

P-020Post-analytic QI: A Hospital’s Approach to Optimization of Abnormal Newborn Screening (NBS) Reporting on InpatientsR. Parad, K. Murphy and E. Langner, Brigham and Women’s Hospital, Boston, MA

Presenter: Richard Parad, MD, MPH, Director of Neonatal Genomic Medicine Program; Attending Neonatologist, Brigham and Women’s Hospital, Boston, MA, Phone: 617.732.7371, Email: [email protected]

P-021Screening Performance of the FDA-Approved TREC Assay in CaliforniaA. Constantino, M. Sartippour, J. Dhaliwal, S. DeSousa, L. Wu, S. Sciortino, L. Feuchtbaum and R.Al. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Constantino Aznar, Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, Phone: 510.231.17115, Email: [email protected]






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P-022Copy Number Variants Limit Exomic Sequencing Approaches to Primary Newborn Screening: A Case Study of Isovaleric AcidemiaB. Currier1, A. Adhikari2, S. Brenner2, R. Gallagher3, P-Y. Kwok,3 J. Puck3; 1California Department Public Health, Richmond, CA, 2University of California, Berkeley, Berkeley, CA, 3University of California, San Francisco, San Francisco, CA

Presenter: Robert Currier, Chief, Evaluation Section, Genetic Disease Screening Program, California Department Public Health, Richmond, CA, Phone: 510.412.1443, Email: [email protected]

P-023California Adrenoleukodystrophy Screening UpdateL. Feuchtbaum, P. Neogi, K. Dhillon, P. Roworth, R. Koupaei and R. Olney, California Department of Public Health, Richmond, CA

Presenter: Lisa Feuchtbaum, Chief, Program Development & Evaluation, Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, Phone: 510.412.1455, Email: [email protected]

P-024Newborn Screening Long Term Follow-Up by Primary Care Providers Using REDCap: A feasibility study using Primary Congenital HypothyroidismL. Feuchtbaum1, E. Bezar2, S. Sciortino1, N. Rosenthal1; 1California Department of Public Health, Richmond, CA, 2Public Health Foundation Enterprises, Richmond, CA

Presenter: Lisa Feuchtbaum, Chief, Program Development & Evaluation, Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, Phone: 510.412.1455, Email: [email protected]

P-025Tetrahydrobiopterin Deficiencies in California: Findings from a Seven Year StudyM. Sartippour, R. Mathur, Y. Shchepin, S. DeSousa, J. Dhaliwal, H. Azizi, S. Narwal and C. Aznar, California Department of Public Health, Richmond, CA

Presenter: Ram Mathur, California Department of Public Health, Richmond, CA, Email: [email protected]






Poster Abstracts

P-026Screening Performance of Primary Congenital Hypothyroidism among Newborns with Down SyndromeH. Tang, B. Currier and L. Feuchtbaum, California Department of Public Health, Richmond, CA

Presenter: Hao Tang, California Department of Public Health, Richmond, CA, Email: [email protected]

P-027Effect of Regulations and Education on Timeliness in Newborn Screening (NBS) in California — NICU vs. Regular NurseryR. Thomas1, B. Foley Ferreira2, K. LeBlanc3, D. Arthur3, R. Shadle4, E. Berman5, B. Currier1; 1California Department of Public Health, Richmond, CA,2Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, 3Rady Children’s Hospital, San Diego, CA, 4Valley Children’s Hospital, Madera, CA, 5University of California, Los Angeles, Los Angeles, CA

Presenter: Robin Thomas, BSN, MPA, Nurse Consultant III, Newborn Screening Program, California Department of Public Health, Richmond, CA, Email: [email protected]

P-028Isotopically Labeled Argininosuccinic Acid — A New Reference Standard for Argininosuccinic AciduriaA. Manning1, W. Wood2, S. Henke2; 1Connecticut Department of Public Health Laboratory, Rocky Hill, CT, 2Cambridge Isotope Laboratories, Inc., Andover, MA

Presenter: Adrienne Manning, Division Director, Newborn Screening, Connecticut Department of Public Health Laboratory, Rocky Hill, CT, Email: [email protected]

P-029Simultaneous Quantitation of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and GuanidinoacetateC. Asef1, K. Khaksarfard, V. De Jesus1; 1Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Carter Asef, BS, ORISE Research Fellow, Biochemical Mass Spectrometry Laboratory, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 770.488.7297, Email: [email protected]






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P-030Assessment of Analyte Recoverability, Analyte Stability, and Method Performance Using Dried Blood Spots Proficiency Testing Materials for Hormones and Total GalactoseQ. Bui, G. Pena, E. Hall, L. Shockley, K. Stewart, I. Williams, S. Zobel and J. Mei, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Quan Bui, Newborn Screening Quality Assurance Program, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-031Creation of Quality Assurance Sample Repository for Identification of Congenital Adrenal Hyperplasia Causing Mutations in the CYP21A2 GeneZ. Detwiler1, C. Greene1, K. Sarafoglou2, C. Pham Lorentz2, C. Cuthbert1, S. Cordovado1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2University of Minnesota Masonic Children’s Hospital, Minneapolis, MN

Presenter: Zachary Detwiler, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-032CDC’s Cystic Fibrosis Mutation Repository Expanded to Include EBV Transformed B-LymphocytesK. Duneman1, M. Hendrix1, M. Kharrazi2, C. Sacramento2, C. Cuthbert1, S. Cordovado1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2 Department of Public Health, Richmond, CA

Presenter: Katherine Duneman, MS, ORISE Fellow, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-033Newborn Screening Molecular Assessment Program: A Tool for Molecular Testing Quality ImprovementC. Greene, C. Cuthbert and S. Cordovado, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Christopher Greene, PhD, Research Scientist, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 770.488.4845, Email: [email protected]






Poster Abstracts

P-034Dried Blood Spot Quality Assurance for Mutations in the GALT gene Associated with Classic and Duarte GalactosemiaL. Hancock, Z. Detwiler, T. Le, C. Cuthbert and S. Cordovado, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Laura Hancock, MS, Research Biologist, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-035Characterizing CDC’S Cystic Fibrosis DNA Repository Specimens Using a High-throughput Single-plex Genotyping AssayM. Hendrix, C. Cuthbert and S. Cordovado, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Miyono Hendrix, Research Scientist, Centers for Disease Control and Prevention, Atlanta, GA Phone: 770.488.4767, Email: [email protected]

P-036Dried Blood Spot Quality Control Materials and a Multiplexed Assay for X-linked Adrenoleukodystrophy and Metachromatic Leukodystrophy Newborn ScreeningB.M. Kenwood, V.R. De Jesús and C. Haynes, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Brandon M. Kenwood, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 404.498.1146, Email: [email protected]

P-037Development of Sequencing and TaqMan Assays to Characterize the ACADM Gene in MCADD Patient SamplesD. Koontz, C. Cuthbert and S. Cordovado, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Deborah Koontz, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]






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P-038Proficiency Testing for T-Cell Receptor Excision Circles (TREC) Assay to Detect Severe Combined Immunodeficiency (SCID) in Newborn Screening — Method Performance from 2015 – 2017F.K. Lee, G.K. Yazdanpanah, I. Williams, C. Cuthbert, R.F Vogt and J. Mei, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Francis K. Lee, MSc, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 770.488.7946, Email: [email protected]

P-039Computation and Analysis of Multiple of the Median Based on Cycle of Quantification Values (Cq or Ct) in the TREC and Other Real-time PCR AssaysF.K. Lee1, A. Manning2, G.K. Yazdanpanah1, R. Vogt1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Katherine A. Kelley Public Health Laboratory, Rocky Hill, CT

Presenter: Francis K. Lee, MSc, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 770.488.7946, Email: [email protected]

P-40Enhancing the Efficiency of the GALC Deletion and Sequencing Assays to Detect Infantile Krabbe in Newborn ScreeningS. Nikolova1, M. Nichols2, L. Krein3, L. DiAntonio3, C. Cuthbert1, M. Caggana3, C. Saavedra-Matiz3, S. Cordovado1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2New York State Department of Health, New York, NY, 3Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Stanimila Nikolova, Research Scientist, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 770.488.4174, Email: [email protected]

P-041Comparability of Recovery for Analytes Measured by Second Tier Testing for Congenital Adrenal Hyperplasia Using Proficiency Testing Materials Distributed from 2006 to 2016G. Pena and I. Williams, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Gyliann Pena, Chemist, Centers for Disease Control and Prevention, Atlanta, GA, Phone: 770.488.7924, Email: [email protected]






Poster Abstracts

P-042Development and Inter-laboratory Evaluation of Dried Blood Spot (DBS) Reference Materials for Assays to Detect Spinal Muscular Atrophy (SMA) by Newborn Bloodspot Screening (NBS)G. Yazdanpanah, F. K. Lee, R. Vogt, K. Mercer, S. Winchester, S-C. Chiang, D. Kay, S. Stevens; 1Centers for Disease Control and Prevention, Atlanta, GA, 2National Taiwan University Hospital, Taipei, Taiwan, 3Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Golriz Yazdanpanah, MS, Centers for Disease Control and Prevention, CDC Foundation, Atlanta, GA, Email: [email protected]

P-043NSQAP Laboratory Support for Newborn Bloodspot Screening to Detect Lysosomal Storage DisordersC. Haynes, H. Zhou, P. Dantonio, G. Yazdanpanah, I. Williams, J. Mei and R. Vogt, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Christopher Haynes, PhD, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-044Evaluation of Dried Bloodspot Reference Materials for Quality Control of Assays to Detect Lysosomal Storage Disorders by Digital Microfluidic FluorescenceP. Dantonio1, G. Yazdanpanah1, C. Haynes1, P. Hopkins2, R. Vogt1, T. Klug2; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Missouri State Public Health Laboratory, Jefferson City, MO

Presenter: Paul Dantonio, MS, Research Biologist, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-045A Compact and Efficient Tissue Culture System for Production of Quality Control Materials for New Molecular and Cellular Assays used in Newborn ScreeningS. Winchester, P. Dantonio, K. Mercer, R. Vogt and F.K. Lee, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Sophia Winchester, ORISE Fellow, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]






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P-046Achieving Timely Specimen Collection, Delivery, and Results Reporting Contributes to Timely Medical InterventionJ. Miller1, C. Yusuf2, S. McKasson1, S. Singh2, Y. Kellar-Guenther1, J. Ojodu2, M. Sontag1; 1Colorado School of Public Health, Aurora, CO, 2Association of Public Health Laboratories, Silver Spring, MD

Presenter: Joshua Miller, MPH, Research Instructor, Colorado School of Public Health, Aurora, CO, Phone: 303.724.4438, Email: [email protected]

P-047 - Withdrawn

P-048The Current Landscape of Newborn Screening for Lysosomal Storage Disorders: Critical Similarities and Differences between PlatformsD. Millington and D. Ball, Duke University, Chapel Hill, NC

Presenter: David Millington, PhD, Emeritus Professor, Duke University Medicine, Chapel Hill, NC. Phone: 919.448.8221, Email: [email protected]

P-049Spinal Muscular Atrophy: Screening in GeorgiaH. Phan1,2, A. Hagar3, M. Gambello1, M. Hinkes4, A. Wittenauer1; 1Emory University, Atlanta, GA, 2Children’s Healthcare of Atlanta, Atlanta, GA, 3Georgia Department of Public Health, Atlanta, GA, 4Northside Hospital, Atlanta, GA

Presenter: Angela Wittenauer, RN, BSN, Short-term Follow-Up Coordinator, Emory University, Atlanta, GA, Phone: 404.778.8489, Email: [email protected]

P-050Pompe, MPSI and ALD Pilot Screening in GeorgiaA. Wittenauer1, A. Hagar2, W. Wilcox1, D. Laney1, P. Hall3; 1Emory University, Atlanta, GA, 2Georgia Department of Public Health, Atlanta, GA, 3Emory University EGL Genetics, Atlanta, GA







Poster Abstracts

P-051Tackling the Duarte Galactosemia ProblemJ. Fridovich-Keil1, M.E. Lynch1, C. Coles1, J. Kable1, J. Mulle1, M. Epstein1, N. Potter2; 1Emory University, Atlanta, GA, 2Washington State University, Spokane, WA


P-052New Conditions, Same Issues: Surveying the Educational Landscape of New Conditions to the RUSPN. Bonhomme and A. Mulford, Baby’s First Test, Genetic Alliance, Washington, DC

Presenter: Natasha Bonhomme, Baby’s First Test, Genetic Alliance, Washington, DC, Email: [email protected]

P-053Deteccion en Recien Nacidos: Creating an Outreach and Education Strategy for Engaging Spanish-speaking Families in Newborn ScreeningA. Mulford and N. Bonhomme, Baby’s First Test, Genetic Alliance, Washington, DC

Presenter: Amelia Mulford, Program Assistant, Baby’s First Test, Genetic Alliance, Washington, DC, Email: [email protected]

P-054Evaluating the Newborn Screening Clearinghouse: Understanding the User Experience to Inform Education and Engagement ActivitiesJ. Seisman and N. Bonhomme, Baby’s First Test, Genetic Alliance, Washington, DC

Presenter: Jackie Seisman, MPH, Assistant Director, Baby’s First Test, Genetic Alliance, Washington, DC, Phone: 202.966.5557 x216, Email: [email protected]






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P-055Four Years’ Experience with Follow-up Testing for Abnormal Newborn Screens for Mucopolysaccharidosis Type I Reveals High Prevalence of Alpha-iduronidase Pseudo-deficiencyL. Pollard, C. Shouse, J. Haley, J. Hallman, D. Carra and T. Wood, Greenwood Genetic Center, Greenwood, SC

Presenter: Laura Pollard, Associate Director, Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, Phone: 864.388.1070, Email: [email protected]

P-056High-throughput Multiplex Newborn Screening Assay for Seven Lysosomal Storage Disorders (LSDs) using Dried Blood Spots and UPLC-Tandem Mass SpectrometryR. Shao, K. Basheerunddin and M. Charles, Illinois Department of Public Health, Chicago, IL

Presenter: Rong Shao, MD, Lab Research Scientist, Newborn Screening Section, Illinois Department of Public Health, Chicago, IL Phone: 312.793.0972, Email: [email protected]

P-057The Effects of Specimen Collection Time and Birth Weight on the Newborn Screening Activities of Enzymes Associated with Lysosomal Storage DisordersR. Shao, K. Basheeruddin, H. Diaz, R. Zimmerman and M. Charles, Illinois Department of Public Health, Chicago, IL

Presenter: Rong Shao, MD, Lab Research Scientist, Newborn Screening Section, Illinois Department of Public Health, Chicago, IL Phone: 312.793.0972, Email: [email protected]

P-058Building the Building Blocks: The Process for Authorship, Review and Approval of the Newborn Screening Health IT Resource Guide and ToolkitM.K. Yost-Daljev, M. Kourbage, S. Downer, A. Padgett and J. Padgett, J. Michael Consulting, Atlanta, GA

Presenter: Mary Kate Yost-Daljev, Lead Laboratory Informatics Consultant, J Michael Consulting, Buford, GA, Phone: 804.687.3895, Email: [email protected]






Poster Abstracts

P-059Play with Building Blocks: The Newborn Screening Health IT Implementation Guide and ToolkitM.K. Yost-Daljev1, M. Kourbage1, S. Downer1, J. Miller2, W. Andrews3; 1J. Michael Consulting, Atlanta, GA, 2Colorado School of Public Health, Aurora, CO, 3Virginia Division of Consolidated Laboratory Services, Richmond, VA

Presenter: Mary Kate Yost-Daljev, Lead Laboratory Informatics Consultant, J Michael Consulting, Buford, GA, Phone: 804.687.3895, Email: [email protected]

P-060Efficient and Effective Newborn Screening for Early Infantile Krabbe DiseaseD. Matern1, G. Dimitar1, D. Oglesbee1, K. Raymond1, S. Tortorelli1, J. Hart,2 L. Mott2, V. Prasad3; 1Mayo Clinic, Rochester, MN, 2Kentucky Department for Public Health, Frankfort, KY, 3Duke University Medical Center, Durham, NC

Presenter: Dietrich Matern, MD, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, Email: [email protected]

P-061Newborn Screening (NBS) for Metachromatic Leukodystrophy (MLD): Results from a Study of 100,000 Deidentified NBS SamplesD. Matern1, C. Kroll1, K. Sanders1, D. Oglesbee1, T. Steyermark2, J. Tarnowski3, M. McCann2; 1Mayo Clinic, Rochester, MN, 2Minnesota Department of Health, St. Paul, MN, 3University of Wisconsin-Madison, Madison, WI

Presenter: Dietrich Matern, MD, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, Email: [email protected]

P-062Insurance Coverage for Metabolic Formula through Michigan MedicaidK. Karasinski, L. Trumbell and J. Bach, Michigan Department of Health and Human Services, Lansing, MI

Presenter: Kristy Karasinski, MPH, Newborn Screening Follow-up Consultant, Michigan Department of Health and Human Services, Lansing, MI, Email: [email protected]






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P-063Linking Birth Defects and Newborn Screening Records for Critical Congenital Heart Disease: Michigan’s FindingsI. Hurden, M. Kleyn, K. Karasinski, J. Ehrhardt and J. Bach, Michigan Department of Health and Human Services, Lansing, MI

Presenter: Kristy Karasinski, MPH, Newborn Screening Follow-up Consultant, Michigan Department of Health and Human Services, Lansing, MI, Email: [email protected]

P-064CFTR Analysis: Inconclusive R75X (c.223C>T) in the Presence of Homozygous R75Q (c.224G>A)K. TenEyck1, C. Langbo1, M. Hendrix2, S. Cordovado2; 1Michigan Department of Health and Human Services, Lansing, MI, 2Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Kelly TenEyck, MS, MB(ASCP), Laboratory Scientist, Michigan Department of Health and Human Services, Lansing, MI, Phone: 517.335.8070, Email: [email protected]

P-065An in Depth Look at the Data Mapping Process for HL7 Implementation: Michigan’s ExperienceH. Wood1, J. Kusey1, K. Karasinski1, M. Bashore1, H. Neusius2; 1Michigan Department of Health and Human Services, Lansing, MI, 2University of Michigan, Ann Arbor, MI

Presenter: Heather Wood, Michigan Department of Health and Human Services, Lansing, MI, Email: [email protected]

P-066Enabling Distributed NBS Laboratory Automation through Web API Interfaces A. Stewart1, A. Anderson2, T. Strong2, B. Louw1; 1Microelectronic Systems Pty Ltd, Brendale, QLD, Australia, 2Integrated Software Solutions Pty Ltd, Sydney, NSW, Australia

Presenter: Andrew Stewart, BSc, PDip, Managing Director, Microelectronic Systems, Brendale, Queensland 4500, Australia, Phone: 61.7.3381.1834, Email: [email protected]






Poster Abstracts

P-067Public Health Newborn Screening’s Enhanced Role in Addressing Health Disparities Found in Sickle Cell Disease and TraitM. Dreon1, M. Tatahmentan1, P. Constant1, N. Vandeberg1, T. Steyermark1, J. Tarnowski2, M. McCann1; 1MN Department of Health, St. Paul, MN, 2University of Wisconsin-Madison, Madison, WI

Presenter: Maggie Dreon, MS, CGC, Certified Genetic Counselor, Minnesota Department of Health, St. Paul, MN, Phone: 651.201.5670, Email: [email protected]

P-068The Chutes and LaddersTM of Pompe and MPS I ImplementationH. Winslow, A. Wruck, A. Hietala, A. Gaviglio, J. Simonetti and M. McCann, Minnesota Department of Health, St. Paul, MN

Presenter: Amy Hietala, MS, Laboratory Supervisor, Newborn Screening Laboratory, Minnesota Department of Health, St. Paul, MN, Phone: 651.201.5455, Email: [email protected]

P-069High Throughput Newborn Screening for X-Linked Adrenoleukodystrophy using Negative Mode Liquid Chromatography Tandem Mass SpectrometryH. Winslow, A. Hietala, A. Wruck, J. Simonetti and M. McCann, Minnesota Department of Health, St. Paul, MN

Presenter: Amy Hietala, MS, Laboratory Supervisor, Newborn Screening Laboratory, Minnesota Department of Health, St. Paul, MN, Phone: 651.201.5455, Email: [email protected]

P-070Provider and Family Fact Sheets: What Do Healthcare Providers Really Need?S. Rosendahl1, J. Cavazos1, M. Dreon1, Z. Rezania1, J. Tarnowski2, A. Dahle1, M. Gin1, P. Constant1; 1Minnesota Department of Health, St. Paul, MN, 2University of Wisconsin-Madison, Madison, WI

Presenter: Sondra Rosendahl, MS, CGC, Genetic Counselor, Minnesota Department of Health, St. Paul, MN, Email: [email protected]






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P-071Second-Tier Molecular Testing for Congenital Adrenal Hyperplasia in MinnesotaB. Warman1, G. Radloff1, E. Morrison1, C. Wolf1, C. Greene2, Z. Detwiler2, S. Cordovado2, A. Hietala1, M. McCann1, C.P. Lorentz3, K. Sarafoglou3; 1Minnesota Department of Health, St. Paul, MN, 2Centers for Disease Control and Prevention, Atlanta, GA, 3University of Minnesota, Minneapolis, MN

Presenter: Carrie Wolf, MBS, Minnesota Department of Health, Saint Paul, MN, Email: [email protected]

P-072Missouri’s Volunteer Model for Successfully Converting to a 6-Day Workweek for the NBS LaboratoryD. Eiken, K. Bock, P. Hopkins and T. Klug, Missouri State Public Health Laboratory, Jefferson City, MO

Presenter: Darla Eiken, Unit Chief, Newborn Screening, Missouri State Public Health Laboratory, Jefferson City, MO, Phone: 573.751.2662, Email: [email protected]

P-073Enzyme Activities of LSDs in a Japanese Neonatal PopulationR. Mashima, National Center for Child Health and Development, Tokyo, Japan

Presenter: Ryuichi Mashima, Senior Research Officer, Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan, Email: [email protected]

P-074Learnings from the Library: Health Informatics Resources and Training Tools from the National Library of MedicineR. Goodwin, National Institutes of Health, Bethesda, MD

Presenter: Rebecca Goodwin, Data Science Specialist, National Library of Medicine, National Institutes of Health, Bethesda, MD, Phone: 301.827.4350, Email: [email protected]






Poster Abstracts

P-075Nevada Newborn Screening Two and a Half Years after TransitionJ. Torres and B. Dy, Nevada State Public Health Laboratory, Reno, NV

Presenter: Jasmin Torres, BSMT, Clinical Scientist/NBS QA Officer, Newborn Screening Program, Nevada State Public Health Laboratory, Reno, NV, Phone: 775.682.6231, Email: [email protected]

P-076Development and Validation of IDUA Sequence Analysis for Second-tier MPS I ScreeningA. MacMillan1, M. Schachter1, S. Shone2; 1New Jersey Department of Health, Ewing, NJ, 2RTI International, Research Triangle Park, NC

Presenter: Alyssa MacMillan, PhD, Molecular Biologist, New Jersey Department of Health, Ewing, NJ, Phone: 609.406.6892, Email: [email protected]

P-077Quantification of Bart’s Hemoglobin to Improve Reporting Possible Alpha-ThalassemiaM. Schachter1, D. Mikhail1, S. Shone2; 1New Jersey Department of Health, Ewing, NJ, 2RTI International, Research Triangle Park, NC

Presenter: Miriam Schachter, PhD, Ronald H. Laessig Memorial Newborn Screening Fellow, Newborn Screening Laboratory , New Jersey Department of Health, Trenton, NJ, Phone: 609.406.6892, Email: [email protected].

P-078Validation of a 6-plex Tandem Mass Spectrometry Assay to Screen for Lysosomal Storage DisordersS. O’Leary1, M. Acconzo1, S. Eroh1, S. Shone2; 1New Jersey Department of Health, Ewing, NJ, 2RTI International, Research Triangle Park, NC

Presenter: Shawn O’Leary, Chemist, New Jersey Department of Health, Ewing, NJ, Phone: 609.406.6890, Email: [email protected]






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P-079National Newborn Screening Contingency Plan — A Guide to Facilitate PreparednessS. Shone1, K. Tate2, J. Ojodu3; 1RTI International, Research Triangle Park, NC, 2Association of Maternal & Child Health Programs, Washington, DC, 3Association of Public Health Laboratories, Silver Spring, MD

Presenter: Scott Shone, PhD, Senior Research Public Health Analyst, RTI International, Research Triangle Park, NC, Phone: 919.485.5512 Email: [email protected]

P-080Carnitine Deficiency in Newborn Screening in Slovakia — New AlgorithmS. Dluholucky, M. Machkova and M. Knapkova, Newborn Screening Centre Slovak Republic, Banska Bystrica, Slovakia

Presenter: Maria Knapkova, Laboratory Manager, Newborn Screening Centre Slovak Republic, Banska Bystrica , Slovakia, Phone: 421.48.472.65.47, Email: [email protected]

P-081Impact of Variations in Filter Paper Lots on Dried Blood Spot Biotinidase ActivityE. Desormeaux, N. McIntosh, M. Kowalski, S. Foster, P. Chakraborty and M. Henderson, Newborn Screening Ontario, Ottawa, ON Canada

Presenter: Emily Desormeaux, Newborn Screening Ontario, Ottawa, ON Canada, Phone: 613.737.7600, x3439, Email: [email protected]

P-082Implementing a Molecular LIS: A RetrospectiveD. Lawrie and L. Racacho, Newborn Screening Ontario, Ottawa, ON, Canada

Presenter: David Lawrie, Business Systems Analyst, Newborn Screening Ontario, Ottawa, ON Canada, Phone: 613.738.3222 x3544, Email: [email protected]






Poster Abstracts

P-083Using Package and Sample Tracking Systems to Support Timely Newborn Screening in Ontario, CanadaC. McRoberts, J. Bottomly, E. Santander, S. McClelland, M. Sayer, J. Milburn and P. Chakraborty, Newborn Screening Ontario, Ottawa, ON Canada

Presenter: Christine McRoberts, MLT, CLQM, NSO Laboratory and Quality Manager, Newborn Screening Ontario, Ottawa, ON Canada, Phone: 613.738.3222 x1040, Email: [email protected]

P-084Building an ‘Ideal’ Newborn Screening LIS: From Theory to PracticeM. Pluscauskas1, C. Paulette2; 1Newborn Screening Ontario, Ottawa, ON Canada, 2Paulette and Company, LLC, Akron, OH

Presenter: Michael Pluscauskas, MBA, Project Director, Newborn Screening Ontario, Ottawa, ON Canada, Phone: 613.737.7600 x3301, Email: [email protected]

P-085– Withdrawn

P-086North Dakota Newborn Screening Public OutreachJ. Meyer and K. Bentz, North Dakota Department of Health, Bismarck, ND

Presenter: Joyal Meyer, RN, MSN, Director, North Dakota Newborn Screening Program, North Dakota Department of Health, Bismarck, ND, Phone: 701.328.4534, Email: [email protected]

P-087 - Withdrawn





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P-088Use of Tandem HPLC and Sanger Sequencing Assays to Establish a Cutoff for the Detection of ß-thalassemia Major in Neonatal PopulationsR. Bennett, C. Saavedra-Matiz, L. DiAntonio, J. Yeman, E. Washor, K. Hedberg, H. Schwab, J. Orsini and M. Caggana Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Ryan Bennett, Research Scientist II, Wadsworth Center, New York State Department of Health, Albany, NY, Phone: 518.474.6310, Email: [email protected]

P-089Comprehensive CFTR Genotyping of New York State Infants with Cystic Fibrosis: Mutation Spectrum and Algorithm ChangeE. Hughes, C. Stevens, C. Saavedra-Matiz, L. Krein, M. Caggana and D. Kay, Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Denise Kay, PhD, Research Scientist, Wadsworth Center, New York State Department of Health, Albany, NY, Email: [email protected]

P-90Combined Method of Analysis for Newborn Screening of Tyrosinemia Type I and X-linked AdrenoleukodystrophyA. Showers, M. Morrissy, J. Orsini and M. Caggana, Wadsworth Center, New York State Department of Health, Albany

Presenter: Mark Morrissey, Research Scientist IV, Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, Phone: 518.486.4395, Email: [email protected]

P-091Are Male Infants at a Disadvantage When Screening for Congenital Hypothyroidism using Thyroxine as a First Tier Screen?N. Tavakoli, L. DeMartino, R. McMahon and M. Caggana, Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Norma Tavakoli, Research Scientist, Wadsworth Center, New York State Department of Health, Albany, NY, Phone: 518.486.2569, Email: [email protected]






Poster Abstracts

P-092Response to the Federal Rule Change Requiring Laboratories to Provide Patients Access to Laboratory ResultsB. Vogel, J. Orsini, S. Bradley and M. Caggana, New York State Department of Health, Albany, NY

Presenter: Beth Vogel, MS, CGC, Research Scientist 3, Wadsworth Center, New York State Department of Health, Albany, NY, Email: [email protected]

P-093Developing Hospital Resources for Newborn ScreeningL. Caton1, T. McCallister1, L. Halstead2, M. Hines3, S. Willis3, V. Harter4, R. Hunter1; 1Oklahoma State Department of Health, Oklahoma City, OK, 2Oklahoma Hospital Association, Oklahoma City, OK, 3Children’s Hospital at Oklahoma University Medical Center, Oklahoma City, OK, 4Integris Baptist Medical Center, Oklahoma City, OK

Presenter: Lisa Caton, MS, RN, Director of Screening and Special Services, Oklahoma State Department of Health, Oklahoma City, OK, Phone: 405.271.6617, Email: [email protected]

P-094Expansion and Improvement of the Oklahoma “Every Baby Counts” ProgramT. McCallister1, R. Hunter1, L. Denson1, L. Halstead2, L. Caton1, S.T. Dunn1; 1Oklahoma State Department of Health, Oklahoma City, OK, 2Oklahoma Hospital Association, Oklahoma City, OK,

Presenter: Tonya McCallister, Supervisor, Newborn Screening Lab, Oklahoma State Department of Health, Oklahoma City, OK, Phone: 405.271.5070, Email: [email protected]

P-095Feasibility of Screening Newborn Dried Bloodspots for Cerebrotendinous Xanthomatosis; Data from a Prospective Pilot Study Screening Druze NewbornsA. DeBarber1, K. Jeffries1, L. Kalfon2, T. Falik Zaccai2; 1Oregon Health & Science University, Portland, OR, 2The Galilee Medical Center, Naharia, Israel

Presenter: Andrea DeBarber, Research Assistant Professor, Physiology & Pharmacology Department, Oregon Health & Science University, Portland, OR, Phone: 503.494.4593, Email: [email protected]






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P-096Improving Timeliness: OZ Newborn Screening System from the Hospital to the State LabL. Daussat1, H. MacIntosh2; 1OZ Systems, Arlington, TX, 2STACS DNA, Ottawa, ON Canada

Presenter: Lura Daussat, Account Manager, OZ Systems, Arlington, TX, Phone: 469.867.1826, Email: [email protected]

P-097Lessons from an IS RebuildM. Pluscauskus1, C. Paulette2, J. Milburn1; 1Newborn Screening Ontario, Ottawa, ON Canada, 2Paulette & Company, LLC, Akron, OH

Presenter: Curt Paulette, Paulette & Company, LLC, Akron, OH, Email: [email protected]

P-098Analytical Performance Characteristics of an Automated Creatine Kinase Muscle Isozyme ImmunoassayT. Korpimaki1, P. Makinen1, L. Merio1, S. Airenne1, P. Furu1, S. Moat2; 1PerkinElmer, Turku, Finland, 2Wales Newborn Screening Laboratory, Cardiff, Wales, United Kingdom

Presenter: Petra Furu, Global Business Manager, PerkinElmer, Turku, Finland, Phone: 358.267.8497, Email: [email protected]

P-099Long-term Stability of Genomic and Extra Genomic Circular DNA Targets in Frozen DBSC. Gutierrez-Mateo, G. Filippov, S. Dallaire, L. Livshin, H. Lindroos, K. Moore; PerkinElmer, Waltham, MA, PerkinElmer, Turku, Finland

Presenter: Cristina Gutierrez Mateo, Principal Scientist, PerkinElmer, Waltham, MA, Email: [email protected]






Poster Abstracts

P-100NeoBase2 Non-derivatized MSMS Kit: Analytical Performance of Novel markers for Improved Tandem Mass Spectrometry Newborn ScreeningT. Lehtonen, PerkinElmer, Turku, Finland

Presenter: Tero Lehtonen, PerkinElmer, ISNS, Turku, Finland, Email: [email protected]

P-101Improved Tandem Mass Spectrometry Newborn Screening: New NeoBase2 Non-derivatized MSMS Kit Assay Features and Performance as Compared to the Current NeoBase AssayT. Lehtonen, PerkinElmer, Turku, Finland

Presenter: Tero Lehtonen, PerkinElmer, ISNS, Turku, Finland, Email: [email protected]

P-102An Automated DBS DNA Extraction Method for a Four-plex Real-time PCR AssayC. Gutierrez-Mateo, G. Filippov, S. Dallaire and J.K. Moore, PerkinElmer, Waltham, MA

Presenter: J. Kent Moore. MDx R&D Leader, PerkinElmer, Waltham, MA, Phone: 781.663.5898, Email: [email protected]

P-103Demonstration of a Four-plex Real-time PCR Assay for SMN1, TREC, KREC, and RPP30 using a Dried Blood Spot in-situ PCR methodS. Dallaire, C. Gutierrez-Mateo, G. Filippov and J.K. Moore, PerkinElmer, Waltham, MA

Presenter: J. Kent Moore. MDx R&D Leader, PerkinElmer, Waltham, MA, Phone: 781.663.5898, Email: [email protected]






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P-104Automation of Sample Preparation for Six-Plex FIA-MS/MS Methods to Measure Lysosomal Enzyme Activities in Dried Blood SpotsA. Potier1, J. Trometer1, S. Bandhakavi1, J. Rehnberg2; 1PerkinElmer, Waltham, MA, 2PerkinElmer, Turku, Finland

Presenter: Anna Potier, Senior Scientist, PerkinElmer, Waltham, MA, Email: [email protected]

P-105Retrospective Evaluation of an Assay for Tandem Mass Spectrometry as a Screening Test for X-ALDP. Schielen1, I. Belmouden1, J. Rehnberg2, W. Visser1, I.C. Huffnagel3, J. Orsini4, S. Kemp3; 1Reference Laboratory for Neonatal Screening, RIVM, Bilthoven, the Netherlands, 2PerkinElmer, Turku, Finland, 3Laboratory Genetic Metabolic Diseases, University of Amsterdam, Amsterdam, the Netherlands, 4New York State Department of Health, Albany, NY

Presenter: Peter Schielen, Head, Reference Laboratory, Neonatal Screening, Bilthoven, Utrecht, the Netherlands, Email: [email protected]

P-106Screening and Diagnostic Testing for Six Lysosomal Storage Diseases (LSD) using the Six-Plex PerkinElmer LSD Reagents Utilising Tandem Mass SpectrometryE. Ranieri, Women’s & Children’s Hospital, North Adelaide, SA, Australia

Presenter: Enzo Ranieri, Head of Biochemical Genetics, Directorate of Genetics & Molecular Pathology, SAPathology at the Women’s & Children’s Hospital, North Adelaide, Adelaide, SA, Australia, Email: [email protected]

P-107Newborn Screening for Metabolic Diseases in Lebanon: 10 Years ExperiencesI. Khhneisser1, M. Rizkallah1, H. Mansour2; 1Saint Joseph University, Beirut, Lebanon, 2University of Balamand, Balamand, Lebanon

Presenter: Issam Khneisser, Unit Head, Newborn Screening Laboratory, Medical Genetic Unit, Saint Joseph University, Beirut, Lebanon, Email: [email protected]






Poster Abstracts

P-108Programmatic Assessment of a Flexible Genotyping Platform for Cystic Fibrosis Newborn ScreeningT. Henry1, V. Van Zee1, M. Ramirez1, J. Macy2, T. Starner2, Carol Johnson2, Stanton Berberich1; 1State Hygienic Laboratory at the University of Iowa, Coralville, IA, 2University of Iowa Hospitals and Clinics, Iowa City, IA

Presenter: Travis Henry, PhD, Laboratory Scientist, State Hygienic Laboratory at the University of Iowa, Coralville, IA, Phone: 319.335.4364, Email: [email protected]

P-109A Novel Method for Inclusion of All Urea Cycle Disorders into Newborn ScreeningR. Fingerhut1,2,3, J. Haberle2,3, M. Halme4, G. Carrard4; 1Swiss Newborn Screening Lab, University Children’s Hospital, Zurich, Switzerland, 2Childrens Research Center, Zurich, Switzerland, 3Division of Metabolism, University Children’s Hospital, Zurich, Switzerland, 4Labsystems Diagnostics Oy, Vantaa, Finland

Presenter: Ralph Fingerhut, Swiss Newborn Screening Lab, University Children’s Hospital, Zurich, Switzerland, Phone: 41.44.266.7732, Email: [email protected]

P-110Provider Education to Improve Timeliness in Newborn ScreeningG. Gassaway1, S. Guerra2, M.C. Dorley1, G. Dizikes3, Y. Li1, J. Moreland4, N. Watson5; 1Tennessee Department of Health Laboratory Services, Nashville, TN, 2Neometrics, Hauppauge, NY, 3Knoxville Regional Laboratory, Knoxville, TN, 4Tennessee Hospital Association, Brentwood, TN, 5University of Tennessee Medical Center at Knoxville, Knoxville, TN

Presenter: Gabrell Gassaway, MPH, Laboratory Technician/Administrative, Tennessee Department of Health Laboratory Services, Nashville, TN, Phone: 615.262.6308, Email: [email protected]

P-111 - Now an oral presention – Roundtable on Alpha Thalassemia





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P-112CF Screening in Tennessee using IRT1-DNA-IRT2M.C. Dorley1, S. Guerra2, A. Ingram1, Y. Li1, D. Stokes3, N. Owen4; 1Tennessee Department of Health, Nashville, TN, 2Neometrics, Hauppauge, NY, University of Tennessee Health Science Center, Memphis, TN, Vanderbilt University Medical Center, Nashville, TN

Presenter: M. Christine Dorley, MSP, BS, MT (ASCP), Assistant Director Newborn Screening, Division of Laboratory Services, Tennessee Department of Health, Nashville, TN, Phone: 615.262.6352, Email: [email protected]

P-113CF Timeliness for Newborn Screening in TennesseeM.C. Dorley1, G. Dizikes2, G. Gassaway1, S. Guerra3, A. Ingram1, Y. Li1, J. Moreland4, N. Watson5; 1Tennessee Department of Health, Nashville, TN, 2Knoxville Regional Laboratory, Knoxville, TN, 3Neometrics, Hauppauge, NY, 4Tennessee Hospital Association, Brentwood, TN, 5University of Tennessee, Knoxville, TN

Presenter: M. Christine Dorley, MSP, BS, MT (ASCP), Assistant Director Newborn Screening, Division of Laboratory Services, Tennessee Department of Health, Nashville, TN, Phone: 615.262.6352, Email: [email protected]

P-114A Rose by Any Other Name — Is This a Case?D. Freedenberg, Texas Department of State Health Services, Austin, TX

Presenter: Debra Freedenberg, MD, PhD, Medical Director, Newborn Screening and Genetics, Texas Department of State Health Services, Austin, TX, Phone: 512.776.3101, Email: [email protected]

P-115Timeliness in Texas — NewSTEPs 360K. Hess1, R. Lee1, B. Reilly1, C. Prinz1, A. Arreola1, A. Denny2, K. Galneau3; 1Texas Department of State Health Services, Austin, TX, 2Texas Children’s Hospital, Houston, TX, 3Memorial Hermann Hospital, Katy, TX

Presenter: Karen Hess, Manager, NBS Genetics Branch, Texas Department of State Health Services, Austin, TX, Phone: 512.776.3376, Email: [email protected]






Poster Abstracts

P-116Continuity of Operations for Second-tier Newborn Screening DNA Testing for Cystic Fibrosis in TexasD. Luna, Y. Sun and R. Lee, Texas Department of State Health Services, Austin, TX

Presenter: D’Andra Luna, Newborn DNA Analysis Group Manager, Texas Department of State Health Services, Austin, TX, Phone: 512.776.6699, Email: [email protected]

P-117Adding a New Disorder or Screening Method in Texas — A RoadmapB. Reilly, D. Luna, P. Hunt, L. Borgfeld, K. Hess and R. Lee, Texas Department of State Health Services, Austin, TX

Presenter: Brendan Reilly, Program Specialist, Texas Department of State Health Services, Austin, TX, Email: [email protected]

P-118Timeliness and Health Information Technology - Texas’ Collaboration with NewSTEPS 360 and OZ SystemsB. Reilly, E. Atkinson and R. Lee, Texas Department of State Health Services, Austin, TX

Presenter: Brendan Reilly, Program Specialist, Texas Department of State Health Services, Austin, TX, Email: [email protected]

P-119Developing Custom Targeted Disease Research or Newborn Panels using Pre-optimized Assays for Next-generation Sequencing: An Automated Approach from Disease to Annotated VariantsF. Hyland, M. Manivannan, B. Krishnaswami, C. Van Loy, A. Broomer, Y. Tian, E. Williams, Y. Zhu, Thermo Fisher Scientific, South San Francisco, CA

Presenter: Fiona Hyland, Director, R&D, Thermo Fisher Scientific, South San Francisco, CA, Phone: 650.399.6252, Email: [email protected]






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P-120Arkansas Newborn Screening Long-Term Follow-up Cohort Study — 5 Year EvaluationJ. Bolick, T. Moore, G. Schaefer, C. Luo, J. Nick and V. Gonzalez, UAMS/Arkansas Children’s Hospital, Little Rock, AR

Presenter: Jo Bolick, BSN, MA, APN, CPNP, NBS Program Director, UAMS/Arkansas Children’s Hospital, Little Rock, AR, Phone: 501.364.1906, Email: [email protected]

P-121Baby Matching Process for the Iowa Newborn Screening ProgramK. Piper1, C. Johnson2, E. Philips2, 1Iowa Newborn Screening Program, Des Moines, IA, 2University of Iowa Hospitals and Clinics, Iowa City, IA

Presenter: Carol K. Johnson, Iowa NBS Follow-up Coordinator, Pediatrics/Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA, Phone: 319.356.3347, Email: [email protected]

P-122Evaluation of Investigational Product for the Measurement of Enzyme Activity Related to Lysosomal Storage DisordersC. Wessels1, J. Rehnberg2, Z. Lukacs1; 1Universitätsklinik Hamburg-Eppendorf, Hamburg, Germany, 2PerkinElmer, Turku, Finland

Presenter: Zoltan Lukacs, Laboratory Director, Universitätsklinik Hamburg-Eppendorf, University Hospital, Metabolic Laboratory, Hamburg, Germany, Email: [email protected]

P-123Health Care Utilization and Costs by Children with Critical Congenital Heart DiseaseM. McClain and M. Flore, University of New Hampshire, Durham, NH

Presenter: Monica McClain, MS, PhD, Research Associate Professor, University of New Hampshire, Durham, NH, Phone: 603.862.4320, Email: [email protected]






Poster Abstracts

P-124Newborn Screening Methodology and Pilot Studies for Lysosomal Storage DiseasesM. Gelb and C.R. Scott, University of Washington, Seattle, WA

Presenter: Michael Gelb, PhD, Professor, University of Washington, Dept of Chemistry, Seattle, WA, Phone: 206.543.7142, Email: [email protected]

P-125Second-tier Newborn Screening Analysis for Lysosomal Storage Disorders: Affected versus Pseudodeficiencies for Pompe, MPS-I and Krabbe DiseasesM. Gelb, University of Washington, Seattle, WA

Presenter: Michael Gelb, PhD, Professor, University of Washington, Dept of Chemistry, Seattle, WA, Phone: 206.543.7142, Email: [email protected]

P-126Toward a Tandem Mass Spectrometry Multiplex Analysis of 24 New Diseases for Newborn Screening and DiagnosisX. Hong, A.B. Kumar and M.H. Gelb, University of Washington, Seattle, WA

Presenter: Xinying Hong, Dept. of Chemistry, University of Washington, Seattle, WA 98195, Email: [email protected] and [email protected]

P-127Tandem Mass Spectrometry but not Fluorimetry Readily Distinguishes Pompe-affected from Pompe-pseudodeficiency Patients in Dried Blood SpotsH-C. Liao1, M.H. Gelb2; 1The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan, 2University of Washington, Seattle, WA

Presenter: Hsuan-Chieh Liao, The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan, Email: [email protected]







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P-128A New Assay for Lysosomal Acid Lipase for Newborn Screening and Diagnosis of Wolman’s Disease and Cholesterol Ester Storage DiseaseS. Masi and M.H. Gelb, University of Washington, Seattle, WA

Presenter: Sophia Masi, Dept. of Chemistry, University of Washington, Seattle, WA, Email: [email protected]

P-129Newborn Screening for the Plain CommunityJ. Scott Schwoerer1, P. Held1, M. Baker1, A. Kuhl1, G. Rice1, G. Spicer2, C. Seroogy1, J. Deline2; 1University of Wisconsin, Madison, WI, 2La Farge Medical Center, La Farge, WI

Presenter: Jessica Scott Schwoerer, MD, Assistant Professor, University of Wisconsin School of Medicine and Public Health, Madison, WI, Phone: 608.263.5497, Email: [email protected]

P-130Newborn Phosphatidylethanol Screening to Detect Prenatal Alcohol Exposure in UruguayA. Baldwin1, E. Oslakovic2, N. Hayes2, R. Magri3, J. Jones1, D. Lewis1, M. Fleming2; 1U.S. Drug Testing Laboratories, Inc., Des Plaines, IL, 2Northwestern University Feinberg School of Medicine, Chicago, IL, 3National Social Security Perinatology Unit, Montevideo, Uruguay

Presenter: Aileen Baldwin, U.S. Drug Testing Laboratory, Des Plaines, IL, Phone: 872.226.6965, Email: [email protected]

P-131Improved Timeliness, Accuracy, and Operational Efficiency in Newborn Screening: An Integrated, Interoperable IT InfrastructureD. Jones1, H. MacIntosh2, T. Finitzo3, K. Hart1, R. Atkinson-Dunn1, A. Rohrwasser1; 1Utah Department of Health, Salt Lake City, UT, 2STACS DNA, Ottawa, ON Canada, 3OZ Systems, Arlington, TX

Presenter: David Jones, Informaticist, Newborn Screening Health, Utah Department of Health, Salt Lake City, UT, Email: [email protected]






Poster Abstracts

P-132SCID Assay Implementation at the Utah Newborn Screening ProgramK. Logerquist, D. Jones, E. Hardin, J. Barnes, R. Atkinson-Dunn, K. Hart and A. Rohrwasser, Utah Department of Health, Salt Lake City, UT

Presenter: Katelyn Logerquist, Utah Department of Health, Taylorsville, UT, Email: [email protected]

P-133Partnering with Birthing Hospitals to Implement Electronic Data Exchange for Newborn Screening Sample Orders and Test Results — If You Build It, Will They Come?W. Andrews1, K. Turner1, E. Hopkins1, R. West1, V. Tyson2; 1Virginia Division of Consolidated Laboratory Services, Richmond, VA, 2Virginia Information Systems Services, Richmond, VA

Presenter: Willie Andrews, BSMT(ASCP), Director of Laboratory Operations, Virginia Division of Consolidated Laboratory Services, Richmond, VA, Phone: 804.648.4480, Email: [email protected]

P-134Critical Congenital Heart Disease Screening Cost Analysis Study in Virginia Birthing HospitalsC. Crews and J. Macdonald, Virginia Department of Health, Richmond, VA

Presenter: Christen Crews, MSN, RN, Public Health Nurse Supervisor, Virginia Newborn Screening Program, Virginia Department of Health, Richmond, VA, Phone: 804.864.7700, Email: [email protected]

P-135Integration of Newborn Screening Follow-Up Module into Laboratory Information Services (LIMS)C. Crews1, J. Macdonald1, W. Andrews2, K. Turner2, V. Tyson2; 1Virginia Department of Health, Richmond, VA, 2Virginia Division of Consolidated Services, Richmond, VA, 3Virginia Information Systems Services, Richmond, VA







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P-136Keeping Newborn Screening under One Roof: The Co-location of Laboratory and Follow-up in VirginiaC. Crews1, J. Macdonald1, W. Andrews2, K. Turner2; 1Virginia Department of Health, Richmond, VA, 2Virginia Division of Consolidated Services, Richmond, VA


P-137Evaluating the Engagement and Inclusion of Out of Hospital Birth Providers in the Commonwealth of Virginia Statewide Newborn Screening ProgramC. Crews and J. Macdonald, Virginia Department of Health, Richmond, VA

Presenter: Jennifer Macdonald, Public Health Nurse Manager, Virginia Newborn Screening Program, Virginia Department of Health, Richmond, VA, Phone: 804.864.7729, Email: [email protected]

P-138The Development of a Newborn Screening Education Website to Improve Outcomes of the Neonatal and Infant PopulationJ. Brickey, C. Crews and J. Macdonald, Virginia Department of Health, Richmond, VA

Presenter: Jennifer Brickey, Public Health Nurse, Virginia Newborn Screening Program, Virginia Department of Health, Richmond, VA, Phone: 804.864.7712, Email: [email protected]

P-139Celebrating 50 Years of Newborn Screening in VirginiaC. Crews1, J. Macdonald1, W. Andrews2, K. Turner2; 1Virginia Department of Health, Richmond, VA, 2Virginia Division of Consolidated Services, Richmond, VA

Presenter: Jennifer Macdonald, Public Health Nurse Manager, Virginia Newborn Screening Program, Virginia Department of Health, Richmond, VA, Phone: 804.864.7729, Email: [email protected]






Poster Abstracts

P-140A New Path for the Virginia Newborn Screening Program: Process Requirements and Validation of a Secure and Standards-based Message System for the Electronic Transfer of Laboratory DataE. Hopkins1, L. Lewellyn1, R. West1, S. Downer2; 1Virginia Division of Consolidated Services, Richmond, VA, 2J Michael Consulting, Atlanta, GA

Presenter: Emily Hopkins, Data/IT Support Group Manager, Virginia Division of Consolidated Laboratory Services, Richmond, VA, Phone: 804.648.4480 x335, Email: [email protected]

P-141Newborn Screening for Severe Combined Immunodeficiency: An Improved Real-time PCR AssayM. Baker, S. Mochal and M. Cogley, Wisconsin State Laboratory of Hygiene, Madison, WI

Presenter: Mei Baker, Wisconsin State Laboratory of Hygiene, Madison, WI, Email: [email protected]

P-142Implementation of a T-cell Receptor Excision Circle (TREC) Assay to Detect Severe Combined Immunodeficiency (SCID) in the Puerto Rican Newborns S.I. Ramirez1,2, A.M. Ortiz1,2, P.S. Borrero1,2, K. Acevedo1,2, C.L. Cadilla3, S.P. Reoyo1,2,3, S. Rivera Sánchez,1,2; 1Department of Pediatrics, University of Puerto Rico, San Juan, PR, 2Puerto Rico Center for Inherited Diseases and Puerto Rico Newborn Screening Program, University of Puerto Rico, San Juan, PR, 3Department of Biochemistry, University of Puerto Rico, San Juan, PR

Presenter: Sulay Rivera-Sánchez, MS, PhD, Assistant Professor, Department of Pediatrics, Associate Director, Puerto Rico Center for Inherited Diseases, University of Puerto Rico, San Juan PR, Phone: 787.777.3234 x7425, Email: [email protected]




Symposia HistoryNational Neonatal Screening Symposium (1981-1999)

Newborn Screening & Genetic Testing Symposium (2001 onward)

1981 Austin, TX

1982 Chicago, IL

1984 Orlando, FL

1985 Columbus, OH

1986 Austin, TX

1988 Portland, OR

1989 New Orleans, LA

1991 Saratoga, NY

1992 Raleigh, NC

1994 Seattle, WA

1995 Corpus Christi, TX

1996 Boston, MA

1998 San Diego, CA

1999 St. Louis, MO

2001 Raleigh, NC

2002 Phoenix, AZ

2004 Atlanta, GA

2005 Portland, OR

2007 Minneapolis, MN

2008 San Antonio, TX

2010 Orlando, FL

2011 San Diego, CA

2013 Atlanta, GA (with ISNS)

2014 Anaheim, CA

2016 St. Louis, MO

2017 New Orleans, LA

Future APHL Meetings

2018 APHL Annual Meeting and Twelfth Government Environmental Laboratory ConferencePasadena, CAJune 2-5, 2018

8515 Georgia Avenue, Suite 700 Silver Spring, MD 20910

phone 240.485.2745 | fax 240.485.2700 www.aphl.org

Documents

Final Program - APHL Shaunak, Washington State ... 2017 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM. 2017 APHL Newborn Screening and Genetic