New CF DX NACF Presentation
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Transcript of New CF DX NACF Presentation
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Resources Available (caution about out of date research;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…