October 11-13, 2012 • Orange County Convention Center • Orlando, Florida

QI Initiative:

Cystic Fibrosis Diagnosis by Newborn Screen

at the University of Rochester Medical Center —

Improving the Family Experience and Clinic Flow

Marcy Odell LMSWBridget Platania RN, MSN, CPNP

October 11-13, 2012 • Orange County Convention Center • Orlando, Florida

PRESENTER DISCLOSUREMarcy Odell LMSW

Bridget Platania RN, MSN, CPNP

No Relationships to Disclose

Objectives

Promote an understanding amongst staff about their involvement in the initial visit of a patient diagnosed with cystic fibrosis (CF) by newborn screen (NBS)

Standardize workflow from positive diagnosis by NBS through the first year of life

Begin the process of building a professional relationship with the patient/family

Reduce the level of anxiety a family may have about the diagnosis and offer hope

Process Family Survey* (February /March 2011)

Staff Survey* (June 2011) * Survey available upon request

Compile Results & Categorize Themes (Fall 2011)

Develop Visual Flowcharts / Flowsheets (Fall 2011)

Present results to CF Team (September 2011) and Family Advisory Board (October 2011)

Collaborate with Pediatric Genetics (November 2011)

Implement (December 2011)

Evaluate (Ongoing)

Family Survey

Collection of family feedback at three time points:

1. Initial receipt of newborn screen information

2. The first 6 months following diagnosis

3. 6 – 12 months following diagnosis

20% Response Rate

Tally of Family Feedback of Initial Visit How did you find out your child has CF:

(3) Prenatal testing / (3) Newborn screen

How old was your child when you learned of the CF diagnosis?

(2) in utero / (4) at 0 – 6 monthsHow old is your child now?:

(1) 0 – 6 months / (4) 1-5 years / (1) 6 - 12 years

How old was your child when s/he was seen for the first visit at the CF Center?

(6) 0-6 months

Summary of Positive Family Feedback (all time points)

Reassurance / Hopefulness

Survival

Resources Available (caution about out of date research;

opportunity to enroll in current study)

Seeing the clinic

Meeting the CF team and asking questions (“tolerable of

ridiculous questions”)

Amount of staff at 1st visit & availability following visit

Professionalism and compassion of staff

Summary of Family Feedback - Opportunities for Growth (all time points)

Stunned and overwhelmed

Ambiguity of diagnosis until sweat test

Hesitation to discuss prognosis causes parental fear

Difficulty accepting diagnosis

Too much information in a short period of time

Length of visit

Not encouraged to bring other family members for

support

Summary of Family Feedback - Opportunities for Growth (all time points)

Results of sweat test not clearly explained

Difficult to hear about future problems/issues

Desire for written information

A follow-up phone call

Continued review of genetics and course of treatment

Staff Survey: New CF Diagnosis

What works well

What are the challenges

Specific to professional role, what should families be educated about at each of the three time points

What disciplines should meet with the patient/family at each time point

Location

Other feedback/comments

Tally of Staff Feedback: What works

Contact from New York State about a positive result (2

mutations)

Genetics input on 1 mutations / + sweat test (already have

met with family prior to sweat test result)

Communication with PCP (either by RN or MD)

Tally of Staff Feedback: Challenges

Contacting families

Scheduling/timing/coordinating team for the initial visit

Room availability

Variability of schedule/day

Who needs to be there

What kind of support do families want?

Tally of Staff Feedback: Challenges

At what visit should RT education start?

MD calls PCP

Consistent setting so we don’t stumble

Genetics input:

Should genetic counseling be added when 2 mutations

noted—is it a missed opportunity to not coordinate

Proposed Visit Outline for the First Year

Step 1• Two mutations (phone call from state)• One mutation / + Sweat TestStep 2• Phone call to family from CF CenterStep 3• Initial Meeting / 1st Clinic VisitStep 4• 2nd Clinic visit / 1-2 weeks after diagnosis

Proposed Visit Outline for the First Year

Step 5• 3rd Clinic visit / 2-4 weeks after diagnosisStep 6• Clinic visits up to 6 months of age (frequency to vary by patient)

Step 7• Clinic visits from 6 – 12 months of age (frequency to vary by patient)

Visual Flowsheets

Newborn Screen Test

(heel stick @ birth)

Elevated IRT (top 5% of the day)

Check for the 40 most common CF

mutations

No mutations (disease unlikely)

Sweat Test only if IRT was in the top 0.5% of the day

Sweat test negative no further follow

up

Sweat test positive repeat /visit to

CF Center

Sweat test borderline repeat

sweat test & possible visit to CF

Center

If IRT below 99.5% for the day, no further testing

1 mutation identified

(carrier vs disease)

Sweat test and Genetics

appointment

Sweat test negative no further f/u

(presumed carrier)

Sweat test positive visit to CF

Center

Sweat test borderline repeat

sweat test & possible visit to CF

Center

2 mutations identified

(disease likely)

Visit to CF Center with sweat test to

follow

Normal IRT(< the top 5%

values for the day)

No further testing for cystic fibrosis

CF NBS Visual Flowchart

Initial visit with CF Center will typically be within 1 – 3 days (will NOT include sweat test)

Resource Websites:

http://www.cff.org/AboutCF/Testing/NewbornScreening/

http://www.newbornscreening.info/Parents/otherdisorders/CF.htm

Initial visit is typically 1-2 hours; will meet MD, NP and ideally SW and RD; visit goal is to establish hope and convey team approach along with a brief overview of CF; start enzymes if needed; f/u visit scheduled within 1 week; sweat test will also be scheduled but will not be performed at the initial visit

New Cystic Fibrosis Diagnosis by Newborn Screen: 2 mutations

May use info in faxed packet as a guide to facilitate discussion

Resource Websites for Family:

http://www.cff.org/AboutCF/Testing/NewbornScreening/

http://www.newbornscreening.info/Parents/otherdisorders/CF.htm

Positive Newborn Screen for Cystic Fibrosis: Elevated IRT and 1 Mutation

Initial visit is typically 1-2 hours; will meet MD, NP and ideally SW and RD; visit goal is to establish hope and convey team approach along with a brief overview of CF; will start enzymes as appropriate; f/u visit scheduled within 1 week; repeat sweat test will be scheduled but will not be performed at this visit

Our experience to date…