Hereditary Cancer - GeneDx€¦ · Experience Matters: Over 140,000 Hereditary Cancer Tests Performed Identification GeneDx offers tools to assist providers in identifying individuals

The GeneDx Experience

Hereditary Cancer Genetic Testing Services

91816_Oncology Overview Brochure.indd 2 12/13/17 4:59 PM

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In medical school there is a saying, “When you hear hoofbeats, think horses not zebras.” Think of common causes of the symptoms first,

not the rare. When you encounter a zebra, think GeneDx. We specialize in diagnosing rare genetic disorders.

GeneDx: Where Rare is Common

Sherri Bale and John Compton were working on identifying genetic causes for various rare disorders at the National Institutes of Health (NIH). Families were

requesting clinical diagnoses, but they could not provide that service through a research laboratory. Other commercial labs did not want to test for

these disorders because of such low volume. To meet that need, Sherri and John decided to open a lab in the year 2000 to offer

testing for these rare and ultra-rare disorders. Today, GeneDx provides genetic testing for hundreds of genetic disorders utilizing cutting-edge technologies and offers a broad array of special services such as: carrier screening, targeted testing,

prenatal diagnosis, research testing, and exome and genome sequencing.

Sherri and John have been recognized for their great work numerous times. Sherri is a member of various working groups with the American College of Medical Genetics, and works closely with the Association for Molecular Pathology in the projects related to genetic testing.

From Humble Beginnings to Industry Leaders

2000: Company founded with 10 tests

2006: Acquired by BRLI

2007: Launched Array CGH

2011: Launched Neurology Panels and XomeDx

2015: Acquired by OPKO Health

2008: Launched Cardiology Panels

2013: Launched Hereditary Cancer Panels

2015: Launched XomeDxXpress

2017: Launched GenomeSeqDx


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Sherri Bale, PhD, FACMG, our founder, is a co-author on the 2007 and 2015 guidelines on the interpretation of sequence variants.1,2 She is also a co-author

on the 2013 ACMG guidelines on next-generation sequencing.3

GeneDx Expertise

Clinical Expertise

150+ MDs/PhDs

140+ Genetic Counselors

500+ Publications/Abstracts

35+ Geneticists

Technical Experience

18 years: Sanger Sequencing 200,000+ tests performed

11 years: Microarrays 240,000+ tests performed

10 years: Next-Generation Sequencing 230,000+ tests performed

7 years: Whole Exome Sequencing 72,000+ exomes sequenced

1. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Genet Med. 2008 Apr;10(4):294-300. (PMID: 18414213)

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. ACMG Laboratory Quality Assurance Committee. Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)

3. ACMG clinical laboratory standards for next-generation sequencing. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. Genet Med. 2013 Sep;15(9):733-47. (PMID: 23887774)


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GeneDx offers a comprehensive testing menu which includes clinically relevant genes associated with hereditary cancer and meets the testing needs across clinical indications.

Our Cancer Panels at a Glance

BRCA1/BRCA2 Ashkenazi Founder Panel (TAT 8-10 days) Three Targeted Pathogenic Variants

BRCA1/BRCA2 Sequencing and Deletion/Duplication Analysis (TAT 8-10 days)

Breast Cancer Management Panel (TAT 2 weeks; RUSH surgical cases 8-10 days) 9 genes

Breast/Gyn Cancer Panel (TAT 2 weeks) 23 genes

Colorectal Cancer Panel (TAT 2 weeks) 20 genes

Lynch/Colorectal High Risk Panel (TAT 2 weeks) 7 genes

Comprehensive Common Cancer Panel (TAT 2 weeks) 46 genes

Common Cancer Management Panel (TAT 2 weeks) 37 genes

Melanoma Panel (TAT 2 weeks) 9 genes

Pancreatic Cancer Panel (TAT 2 weeks) 15 genes

Pediatric Tumor Panel (TAT 3 weeks) 27 genes

PGL/PCC Panel (TAT 3 weeks) 12 genes

Hereditary Prostate Cancer Panel (TAT 2 weeks) 12 genes

Renal Cancer Panel (TAT 3 weeks) 18 genes

OncoGeneDx Custom Panel (TAT 3 weeks) up to 64 genes

Breast and Gynecologic Cancer Panels (see pages 5 and 6)

Colorectal Cancer Panels (see pages 7 and 8)

Panels for Multiple Cancer Types (see page 9)

Tumor Specific Panels (see page 9)

Custom Panel (see page 10)


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Hereditary Cancer Testing at GeneDx

GeneDx Offers a Comprehensive Cancer Program

Experience Matters: Over 140,000 Hereditary Cancer Tests Performed

Identification GeneDx offers tools to assist providers in identifying individuals who may be at risk to develop cancer due to a hereditary cancer syndrome

Education GeneDx provides educational materials to improve the understanding of hereditary cancer and genetic testing

Selection GeneDx offers a comprehensive and flexible testing menu to meet the testing needs of health care providers and their patients

Support GeneDx offers a variety of post-test patient educational and management tools

Colorectal and Lynch Syndrome Related Cancer Panels

4%

Custom Panels 11%

Panels for Multiple Cancer Types

25%

Breast and Gynecologic

Cancer Panels 52%

Tumor Specific Panels 8%

Colorectal Cancer Panel (TAT 2 weeks) 20 genes

Lynch/Colorectal High Risk Panel (TAT 2 weeks) 7 genes

OncoGeneDx Custom Panel (TAT 3 weeks) up to 64 genes


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Hereditary Breast and Gynecologic Cancer Testing

Identifying Patients at Risk for Hereditary Breast and Gynecologic Cancer• Breast or endometrial cancer diagnosed under 50 years of age• Multiple cancers in one person, either of the same origin (such as two separate breast cancers)

or of different origins (such as breast and ovarian cancer or endometrial and colon cancer)• Ovarian cancer or male breast cancer at any age• Multiple relatives diagnosed with the same or related cancers (including breast, ovarian, endometrial,

pancreatic and/or prostate) on the same side of the family and spanning multiple generations• Ashkenazi Jewish ancestry with a history of breast, ovarian or pancreatic cancer• A known pathogenic variant in a blood relative

Exploring the Positive Results at GeneDx for Breast Cancer Pathogenic/likely pathogenic variants have been found in a number of genes in women with a personal history of breast cancer. The pie chart below describes our experience at GeneDx.

Approximately 5-10% of all breast cancers, 25% of all ovarian cancers, and 5-10% of all endometrial cancers occur because a woman was born with a pathogenic variant

in a gene that increased her risk to develop cancer.

BRCA1 16%

PALB2 9%

CHEK2 26%

ATM 12%

Other Moderate-Risk Genes** 6%

Newer-Risk Genes*** 7%

BRCA2 19%

Other High Risk Genes* 5%

*Other High-Risk Genes: CDH1, MLH1, MSH2, MSH6, PMS2, PTEN, TP53 **Other Moderate-Risk Genes: BRIP1, RAD51C, RAD51D ***Newer-Risk Genes: FANCC, NBN, BARD1

Moderate-Risk Genes

High-Risk Genes

Newer-Risk Genes

Pathogenic and Likely Pathogenic Variants in Women with Breast Cancer


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Hereditary Breast and Gynecologic Cancer Panels

For patients and families with a history of rare or multiple cancer types, we also offer more comprehensive hereditary cancer testing options. Please see pages 9 and 10 for more details.

Positive Yields for Patients Referred for Hereditary Breast and Gynecologic Cancer Testing

0%

Male Breast 15.4%

Ovarian

Endometrial

Female Breast Cancer Diagnosed <50 10.8%

Female Breast, Personal and Family History

Female Breast 9.6%

13.1%

9.2%

9.8%

2% 4% 6% 8% 10% 12% 14% 16%

BRCA1/BRCA2 Ashkenazi Founder Panel (TAT 8-10 days) Targeted testing for three known founder variants in BRCA1 and BRCA2

Breast/Gyn Cancer Panel (TAT 2 weeks) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD51C, RAD51D, RECQL, TP53

BRCA1/BRCA2 Sequencing and Deletion/Duplication Analysis (TAT 8-10 days) BRCA1, BRCA2

Lynch/Colorectal High Risk Panel (TAT 2 weeks) APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2

Breast/Gyn Cancer Panel (TAT 2 weeks) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD51C, RAD51D, RECQL, TP53

Breast Cancer Management Panel (TAT 2 weeks; RUSH surgical cases 8-10 days) ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, TP53

Breast and Ovarian Cancer Testing Options

Endometrial Cancer Testing Options


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Hereditary Colorectal Cancer Testing

Identifying Patients at Risk for Hereditary Colorectal Cancer• Colorectal or endometrial cancer under 50 years of age • Multiple cancers in one person, either of the same origin (such as two separate colon cancers) or of

different origins (such as colorectal and endometrial cancer) • Diagnosis of multiple colon polyps at any age • Tumor testing which indicates an increased risk for Lynch syndrome • Multiple relatives diagnosed with the same or related cancers (such as colorectal, endometrial, ovarian,

urinary tract, gastric) on the same side of the family and spanning multiple generations• A known pathogenic variant in a blood relative

Exploring the Results at GeneDx for Colorectal CancerPathogenic/likely pathogenic variants have been found in a number of genes in patients with a personal history of colorectal cancer. The pie chart below describes our experience at GeneDx.

Pathogenic variants in several genes have been associated with hereditary colorectal cancer, such as Lynch and other cancer syndromes. Individuals with pathogenic variants in these genes may develop

colorectal cancer at young ages or may have an increased risk for multiple cancer diagnoses in a lifetime.

EPCAM-related 1%

Other Polyp Genes* 2%

Polyp Genes

Lynch Genes

Other Inherited Cancer Genes

*Other Polyp Genes: BMPR1A, POLE, PTEN, STK11 **Other Cancer Genes: AXIN2, BARD1, BRCA1, BRCA2, BRIP1, FANCC, NBN, PALB2, RAD51C, RAD51D, TP53, SDHD

MUTYH 11%

APC 7%

CHEK2 7%

ATM 4%

Other Cancer Genes** 9%

MLH1 22%

MSH2 16%

MSH6 10%

PMS2 11%

Pathogenic and Likely Pathogenic Variants in Individuals with Colorectal Cancer


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Hereditary Colorectal Cancer Panels

For patients and families with a history of rare or multiple cancer types, we also offer more comprehensive hereditary cancer testing options. Please see pages 9 and 10 for more details.

Positive Yields Among Patients with Lynch-Related Cancers

0%

Gastric

14.5%

Ovarian

Endometrial 13.6%

12.3%

Colorectal

14.1%

2% 4% 6% 8% 10% 12% 14% 16% 18%

Colorectal Cancer Testing Options

Lynch/Colorectal High Risk Panel (TAT 2 weeks) APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2

Colorectal Cancer Panel (TAT 2 weeks) APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SCG5/GREM1, SMAD4, STK11, TP53


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Testing for Multiple Cancer Types

GeneDx offers a variety of testing options that may be appropriate for patients with a personal or family history of a rare or specific cancer phenotype(s).

Comprehensive Common Cancer Panel (TAT 2 weeks) APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, FH, FLCN, HOXB13, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51C, RAD51D, RECQL, SCG5/GREM1, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL

OncoGeneDx Custom Panel (TAT 3 weeks) Create a customized cancer panel from a list of 64 cancer susceptibility genes. Please see page 10 for more details.

Common Cancer Management Panel (TAT 2 weeks) APC, ATM, AXIN2, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, FH, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL

In some cases, it may be beneficial to address a broad range of cancer susceptibility genes. Testing using these panels may be appropriate for patients/families with a wide spectrum of cancers or for providers who want to customize their cancer panel.

Panels for Multiple Cancer Types

Melanoma Panel (TAT 2 weeks) BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53

Pancreatic Cancer Panel (TAT 2 weeks) APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL

PGL/PCC Panel (TAT 3 weeks) FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Hereditary Prostate Cancer Panel (TAT 2 weeks) ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53

Renal Cancer Panel (TAT 3 weeks) BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Pediatric Tumor Panel (TAT 3 weeks) ALK, APC, CDC73, DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN,RB1, RET, SMARCA4, SMARCB1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WT1

Tumor Specific Panels


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Testing with a Custom Panel

OncoGeneDx Custom PanelThe OncoGeneDx Custom Panel is a flexible testing option that allows providers to customize their test in order to meet the individual needs of their patient. Providers have the option to choose anywhere from a single gene test to a full 64 gene panel. Below is a list of available genes separated into their current risk category.

Hig

h-R

isk

Gen

es

ALK, APC, BMPR1A, BRCA1, BRCA2, CDC73, CDH1, CDKN2A, EPCAM, FH, FLCN, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, NF2, PALB2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RET, SDHB, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL, WT1

Mo

der

ate-

Ris

k G

enes

ATM, BRIP1, CHEK2, RAD51C, RAD51D

New

er-R

isk

Gen

es AXIN2, BAP1, BARD1, CDK4, DICER1, FANCC, HOXB13, MAX, MET, MITF, NBN, NTHL1, POLD1, POLE, POT1, SCG5/GREM1, RECQL, SDHA, SDHAF2, SDHC, SMARCA4, SMARCB1, SUFU, TMEM127

High-Risk Genes Well-studied • Greater than 4-fold risk of developing one or more cancers • Can cause a moderate risk for other cancers • National or expert opinion guidelines for screening and prevention are established

Moderate-Risk Genes Well-studied • Approximately 2- to 4-fold risk of developing one or more cancers • May increase risk for other cancers • Limited guidelines for screening and prevention

Newer-Risk Genes Not as well-studied • Precise lifetime risks and tumor spectrum not yet determined • Guidelines for screening and prevention are limited or not available


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Data Analysis and Variant Classification Process

Every variant identified at GeneDx goes through a comprehensive review process as described below.

• Comprehensive database and literature review, including Human Gene Mutation Database, ClinVar, as well as gene-specific, population and internal databases

• Review of output from in-silico protein and splicing prediction models, as well as evolutionary conservation data

• Analysis of functional impact, including assessing structural/functional domain and predicted effect on protein

• Performed by PhD-level analysts trained in molecular genetics and/or biochemistry

Literature andDatabase Review

• Technical review of raw data

• Confirmation of identified variants by Sanger sequencing, microarray, MLPA or other appropriate method

• Determine nomenclature and technical parameters (e.g. coverage, mosaicism, heteroplasmy)

ACGT Technical Data Analysis

• Detailed review of cumulative evidence and final classification of variants in line with 2015 ACMG guidelines: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign and Benign

• Performed by board-certified medical and molecular geneticists with specific expertise in the disease area and testing platform

Final Review

• In-depth analysis of the variant within clinical context in literature (e.g. segregation, case-control studies, co-occurrence with a known pathogenic variant) and patients’ clinical information

• Consultation and collaboration with recognized scientific experts

• Performed by board-certified/eligible genetic counselors

Clinical Review

• Results summarized in clear, concise and thoughtfully written reports customized to the patient tested

• Reports include clinical references, as well as appropriate medical management, patient educational material and other resources, when available

• Written and signed by genetic counselors and board-certified medical and molecular geneticists

Reporting

• Complimentary Variant Testing Program available to eligible families to aid in variant classification

• Re-evaluation of variants incorporates literature and database review, segregation and clinical data, when available

• Applies to variants identified in a new patient or upon client request, when it has been more than 6 months since the variant was last vetted or pertinent, new data is available

• Updated results report provided to the ordering healthcare provider for any one-step classification change involving a VUS, Likely Pathogenic Variant or Positive

• Continued communication with clients to discuss cases and results

Variant Follow-Up

We support the community by consistently sharing our data in publically available variant databases and are the largest commercial laboratory contributor to ClinVar.

REPORT

ACGT

REPORT


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Tools for Your Practice

Identification

EDUCATE

Materials Testing

SCREEN DIAGNOSE MANAGE

Patient Support

Family History Questionnaire for Hereditary Cancer Syndromes

www.genedx.com/MyCancerHistory

Patient Name: Date of Birth: Gender: M / F Ethnicity:

Phone: Email: Date Completed:

Please complete the below questionnaire to assist your healthcare provider in determining if your personal or family history may be placing you or other family members at increased risk to develop cancer, and if you may be eligible for genetic testing (which is often done via a blood test).

Tips: • Each row should be completed independently • Affected relatives on your mother’s side of the family should be listed in the pink boxes and affected relatives on your father’s side of the family should be listed in the blue boxes • Age at diagnosis is the age at which the cancer was diagnosed • Other friends and family can assess their cancer risk by going to www.genedx.com/MyCancerHistory where they can complete this same form and share it with a healthcare professional.

Past genetic testing for cancer: Self Relative Result:

Patient Questionnaire: HBOC only

Breast and Ovarian Cancer

You, siblings, and children:Include yourself, siblings,

children, grandchildren, nieces, nephews, great-grandchildren

Maternial Relatives:Include mother and maternal

half-siblings, aunts, uncles, grandparents,

great-grandparents, great-aunts, great-uncles, first cousins

Paternal Relatives:Include father and paternal

half-siblings, aunts, uncles, grandparents,

great-grandparents, great-aunts, great-uncles, first cousins

You / RelativeAge at

diagnosisRelative

Age at diagnosis

RelativeAge at

diagnosis

BRCA1 or BRCA2 mutation positive

Ashkenazi Jewish ancestry N/A N/A N/A

Breast cancer

A second, separate diagnosis of breast cancer (second primary)

Breast cancer in both breasts (bilateral breast cancer)

Triple negative breast cancer* (If you are unsure, please do not add)

Male breast cancer

Ovarian cancer

Pancreatic cancer

Prostate cancer

* Triple negative breast cancer refers to three receptors: Estrogen Receptor (ER) negative, Progesterone Receptor (PR) negative, HER2neu negative

GeneDx provides unique tools to help identify individuals at risk for hereditary cancer,

including:

A variety of patient educational materials are available through GeneDx, including:

GeneDx strives to make the genetic testing

process as smooth as possible for patients and

providers:

After testing, GeneDx offers numerous tools to assist

with patient management, including:

• MyGeneticsTree.com, a web based family history tool that identifies individuals who meet criteria for hereditary cancer testing and can be completed prior to a scheduled visit

• Family History Forms, a questionnaire which can help determine if individuals or other family members are candidates for genetic testing

• Patient-friendly guides and panel fact sheets which can be referenced while discussing genetic testing options

• Patient videos, providing test specific details and information

• www.genedx.com/oncology, a website discussing hereditary cancer and testing options

• Patient Friendly Reports that provide an explanation and discussion of individual test results and management options

• Lifetime risk assessment materials outlining cancer risks based on the test results

• Post-test genetic counseling is available upon request

• Local sales representatives can help coordinate testing

• Genetic counselors are available to support test selection and education

• Easy to complete requisition and family history forms

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Hereditary Cancer Genetic Testing

A Comprehensive Guide

OncoGeneDx Test Requisition Form

Sample Information

Medical record # Specimen ID Date sample obtained (mm/dd/yy)❒ Blood in EDTA (5-6 mL in lavender top tube)❒ DNA (>20 ug): Tissue source _______ concentration ___ (ug/ml) total Volume ___(ul)❒ Oral Rinse (At least 30 mL of Scope oral rinse in a 50 mL centrifuge tube)❒ Buccal Swab❒ Other __________________________(Call lab)Patient has had a blood transfusion ❒ Yes ❒ No Date of last transfusion __/__/__(2-4 weeks of wait time is required for some testing) Specimens are not accepted for patients who have had allogeneic bone marrow transplants ❒ Treatment-Related RUSH: ____________ (If known, please provide date)Clinical Diagnosis: _________________________ ICD-10 Codes: _________Age at Initial Presentation: __________

Relationship to Insured ❒ Child ❒ Spouse ❒ Self ❒ Other _______


❒ Institutional Bill

GeneDx Account #

Hospital/Lab Name

Contact Name

Address

City State Zip Code

Phone Fax

❒ Patient Bill Amount _______________I understand that my credit card will be charged the full amount for the testing. Please bill my credit card (all major cards accepted) ❒ MasterCard ❒ Visa ❒ Discover ❒ American Express

Name as it appears on card

Account Number Expiration date CVC

Signature Date

For GeneDx Use Only

Referral/Prior Authorization # ___________________GeneDx Benefit Investigation # __________________

Statement of Medical NecessityThis test is medically necessary for the diagnosis or detection of a disease, illness, impairment, symptom, syndrome or disorder. The results will determine my patient's medical management and treatment decisions. The person listed as the Ordering Physician is authorized by law to order the tests(s) requested herein. I confirm that I have provided genetic testing information to the patient and the patient has consented to genetic testing.

Medical Professional Signature (required) Date

Patient Consent (sign here or on the consent document) I have read the Informed Consent document and I give permission to GeneDx to perform genetic testing as described. I also give permission for my specimen and clinical information to be used in de-identified studies at GeneDx to improve genetic testing and for publication, if appropriate. My name or other personal identifying information will not be used in or linked to the results of any studies and publications.I also give GeneDx permission to inform me or my health care provider in the future about research opportunities, including treatments for the condition in my family.

❒ Check this box if you wish to opt out of being contacted for research studies.

❒ Check this box if you are a New York state resident, and give permission for GeneDx to retain any remaining sample longer than 60 days after the completion of testing.

Patient/Guardian Signature Date

Patient Information

First name Last nameGender ❒ Male ❒ Female Date of birth (mm/dd/yy)__________________________Ancestry ❒ Caucasian ❒ Eastern European ❒ Northern European ❒ Western European ❒ Native American ❒ Middle Eastern ❒ African American ❒ Asian ❒ Pacific Islander ❒ Caribbean ❒ Central/South American ❒ Ashkenazi Jewish ❒ Hispanic ❒ Other:________________

Mailing address

City State Zip code

Home phone Work phone

Email Patient's primary language if not English

Ordering Account Information

Acct # Account NameReporting Preference*. ❒ Care Evolve ❒ Fax ❒ Email *If unmarked, we will use the account's default preferences or fax to new clients.

Physician NPI #

Genetic Counselor

Street address 1

Street address 2

City State Zip code

Phone Fax (important)

Email Beeper

Send Additional Report Copies To:

Physician or GC/Acct # Fax#/Email/CE #


Payment Options❒ Insurance Bill PATIENT STATUS – ONE MUST BE CHECKED ❒ Hospital Inpatient ❒ Hospital Outpatient ❒ Not a Hospital Patient

Insurance Carrier Policy Name ❒ Hold sample for Benefit Investigation (only if OOP cost is >$100) Please attach copy of Referral/authorization

Insurance ID # Group # Name of Insured Date of Birth Insurance Address City State Zip

Secondary Insurance Insurance ID# Group # Name of Insured Date of Birth Carrier NamePlease include a copy of the front and back of the patient’s insurance card (include secondary when applicable)If you would like to expedite an assessment of your possible eligibility for GeneDx’s financial assistance program (FAP), please provide the number of your household members _____ and the annual income of your household $________. GeneDx may require additional information from you to complete an application for GeneDx’s financial assistance program. I represent that I am covered by insurance and authorize GeneDx, Inc. to give my designated insurance carrier, health plan, or third party administrator (collectively "Plan") the information on this form and other information provided by my health care provider necessary for reimbursement. I authorize Plan benefits to be payable to GeneDx. I understand that GeneDx will attempt to contact me if my out-of-pocket responsibility will be greater than $100 per test (for any reason, including co-insurance and deductible, or non-covered services). If GeneDx is unsuccessful in its attempts to contact me, I understand that it will be my responsibility to contact GeneDx to determine my out-of-pocket cost and to pay my out-of-pocket responsibility. I will cooperate fully with GeneDx by providing all necessary documents needed for Plan billing and appeals. I understand that I am responsible for sending GeneDx any and all of the money that I receive directly from my Plan in payment for this test. Reasonable collection and/or attorney’s fees, including filing and service fees, shall be assessed if the account is sent to collection but said fees shall not exceed those permitted by state law. I permit a copy of this authorization to be used in place of the original.

Patient Signature (required)____________________________________________________________________________________ Date _____________________________

© GeneDx, Inc. 09/17 207 Perry Parkway, Gaithersburg, MD 20877 • T: (888) 729-1206 (Toll-Free), (301) 519-2100 • F: (201) 421-2010 • www.genedx.com Page 1 of 6

my GENETICS tree


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How to Order

OncoGeneDx Test Requisition Form

Sample Information

Medical record # Specimen ID Date sample obtained (mm/dd/yy)❒ Blood in EDTA (5-6 mL in lavender top tube)❒ DNA (>20 ug): Tissue source _______ concentration ___ (ug/ml) total Volume ___(ul)❒ Oral Rinse (At least 30 mL of Scope oral rinse in a 50 mL centrifuge tube)❒ Buccal Swab❒ Other __________________________(Call lab)Patient has had a blood transfusion ❒ Yes ❒ No Date of last transfusion __/__/__(2-4 weeks of wait time is required for some testing) Specimens are not accepted for patients who have had allogeneic bone marrow transplants ❒ Treatment-Related RUSH: ____________ (If known, please provide date)Clinical Diagnosis: _________________________ ICD-10 Codes: _________Age at Initial Presentation: __________



❒ Institutional Bill

GeneDx Account #

Hospital/Lab Name

Contact Name

Address

City State Zip Code

Phone Fax

❒ Patient Bill Amount _______________I understand that my credit card will be charged the full amount for the testing. Please bill my credit card (all major cards accepted) ❒ MasterCard ❒ Visa ❒ Discover ❒ American Express

Name as it appears on card

Account Number Expiration date CVC

Signature Date

For GeneDx Use Only

Referral/Prior Authorization # ___________________GeneDx Benefit Investigation # __________________

Statement of Medical NecessityThis test is medically necessary for the diagnosis or detection of a disease, illness, impairment, symptom, syndrome or disorder. The results will determine my patient's medical management and treatment decisions. The person listed as the Ordering Physician is authorized by law to order the tests(s) requested herein. I confirm that I have provided genetic testing information to the patient and the patient has consented to genetic testing.

Medical Professional Signature (required) Date

Patient Consent (sign here or on the consent document) I have read the Informed Consent document and I give permission to GeneDx to perform genetic testing as described. I also give permission for my specimen and clinical information to be used in de-identified studies at GeneDx to improve genetic testing and for publication, if appropriate. My name or other personal identifying information will not be used in or linked to the results of any studies and publications.I also give GeneDx permission to inform me or my health care provider in the future about research opportunities, including treatments for the condition in my family.

❒ Check this box if you wish to opt out of being contacted for research studies.

❒ Check this box if you are a New York state resident, and give permission for GeneDx to retain any remaining sample longer than 60 days after the completion of testing.

Patient/Guardian Signature Date

Patient Information

First name Last nameGender ❒ Male ❒ Female Date of birth (mm/dd/yy)__________________________Ancestry ❒ Caucasian ❒ Eastern European ❒ Northern European ❒ Western European ❒ Native American ❒ Middle Eastern ❒ African American ❒ Asian ❒ Pacific Islander ❒ Caribbean ❒ Central/South American ❒ Ashkenazi Jewish ❒ Hispanic ❒ Other:________________

Mailing address

City State Zip code

Home phone Work phone

Email Patient's primary language if not English

Ordering Account Information

Acct # Account NameReporting Preference*. ❒ Care Evolve ❒ Fax ❒ Email *If unmarked, we will use the account's default preferences or fax to new clients.

Physician NPI #

Genetic Counselor

Street address 1

Street address 2

City State Zip code

Phone Fax (important)

Email Beeper

Send Additional Report Copies To:



Payment Options❒ Insurance Bill PATIENT STATUS – ONE MUST BE CHECKED ❒ Hospital Inpatient ❒ Hospital Outpatient ❒ Not a Hospital Patient

Insurance Carrier Policy Name ❒ Hold sample for Benefit Investigation (only if OOP cost is >$100) Please attach copy of Referral/authorization

Insurance ID # Group # Name of Insured Date of Birth Insurance Address City State Zip

Secondary Insurance Insurance ID# Group # Name of Insured Date of Birth Carrier NamePlease include a copy of the front and back of the patient’s insurance card (include secondary when applicable)If you would like to expedite an assessment of your possible eligibility for GeneDx’s financial assistance program (FAP), please provide the number of your household members _____ and the annual income of your household $________. GeneDx may require additional information from you to complete an application for GeneDx’s financial assistance program. I represent that I am covered by insurance and authorize GeneDx, Inc. to give my designated insurance carrier, health plan, or third party administrator (collectively "Plan") the information on this form and other information provided by my health care provider necessary for reimbursement. I authorize Plan benefits to be payable to GeneDx. I understand that GeneDx will attempt to contact me if my out-of-pocket responsibility will be greater than $100 per test (for any reason, including co-insurance and deductible, or non-covered services). If GeneDx is unsuccessful in its attempts to contact me, I understand that it will be my responsibility to contact GeneDx to determine my out-of-pocket cost and to pay my out-of-pocket responsibility. I will cooperate fully with GeneDx by providing all necessary documents needed for Plan billing and appeals. I understand that I am responsible for sending GeneDx any and all of the money that I receive directly from my Plan in payment for this test. Reasonable collection and/or attorney’s fees, including filing and service fees, shall be assessed if the account is sent to collection but said fees shall not exceed those permitted by state law. I permit a copy of this authorization to be used in place of the original.

Patient Signature (required)____________________________________________________________________________________ Date _____________________________

© GeneDx, Inc. 09/17 207 Perry Parkway, Gaithersburg, MD 20877 • T: (888) 729-1206 (Toll-Free), (301) 519-2100 • F: (201) 421-2010 • www.genedx.com Page 1 of 6

1. Download the test requisition forms from the GeneDx website: www.genedx.com/forms

2. Complete all the forms with the required information 3. Ship completed forms along with appropriate patient sample to

the following address:

Accessions GeneDx 207 Perry Parkway Gaithersburg, MD 20877

We provide specimen collection kits to health care providers upon request. To place an order for kits, please visit our website: www.genedx.com/supplies or email us at [email protected]

Specimen Requirements

Blood in EDTA (5-6 mL in lavender top tube)

Oral Rinse in a 50 mL centrifuge tube (at least 30 mL of Scope oral rinse)

DNA (>20 ug)

Buccal Swab

Ordering with a Requisition

GeneDx is committed to providing an easy to use online platform to order genetic tests. Our online portal makes the ordering process simple and straightforward. Providers can now upload clinical information electronically, track the progress of an order, and receive results instantaneously through the portal. The portal can be accessed from our website www.genedx.com. Additionally, GeneDx forms can also be easily accessed for digital or print use at www.genedx.com/forms.

Ordering Through Our Online Portal


14

Billing Policy

Medicare/Medicaid• Medicare is accepted but an Advance Beneficiary Notice is required for patients who do not meet

Medicare criteria.

• Medicaid coverage varies by state; Medicaid will not cover genetic testing in most cases.

Institutional• A referring institution is billed directly if a GeneDx Institutional Account has been established.

• A GeneDx Institutional Account allows the referring physician to submit samples through their facility’s send-out laboratory.

• To set up an institutional account, please call us at 301-519-2100.

Self-Pay• A payment plan is available for patients who are financially challenged or those who do not have

insurance.

• For more information, please call us at 301-519-2100.

Commercial Insurance• All commercial insurance is accepted.

• A benefit investigation is performed. We work with insurance carriers and patients to minimize the out-of-pocket cost to patients.

Blood in EDTA (5-6 mL in lavender top tube)

Oral Rinse in a 50 mL centrifuge tube (at least 30 mL of Scope oral rinse)

DNA (>20 ug)

Buccal Swab

Notes


About GeneDxGeneDx was founded in 2000 by two scientists from the National Institutes of Health (NIH) to address the needs of patients diagnosed with rare disorders and the clinicians treating these conditions. Today, GeneDx has grown into a global industry leader in genomics, having provided testing to patients and their families in over 55 countries. Led by its world-renowned clinical genomics program, and an unparalleled comprehensive genetic testing menu, GeneDx has a continued expertise in rare and ultra-rare disorders. Additionally, GeneDx also offers a number of other genetic testing services, including: diagnostic testing for hereditary cancers, cardiac, mitochondrial, and neurological disorders, prenatal diagnostics, and targeted variant testing. At GeneDx, our technical services are backed by our unmatched scientific expertise and our superior customer support. Our growing staff includes more than 35 geneticists and 140 genetic counselors specializing in clinical genetics, molecular genetics, metabolic genetics, and cytogenetics who are just a phone call or email away to assist you with your questions and testing needs. We invite you to visit our website: www.genedx.com to learn more about us.

© 2017 GeneDx, Inc. All rights reserved. 91816 V2 12/2017 Information current as of 12/2017

207 Perry Parkway

Gaithersburg, MD 20877

T 1 888 729 1206 (Toll-free), 1 301 519 2100 • F 1 201 421 2010

E [email protected] • www.genedx.com


Documents

Hereditary Cancer - GeneDx€¦ · Experience Matters: Over 140,000 Hereditary Cancer Tests Performed Identification GeneDx offers tools to assist providers in identifying individuals