An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers

Transcription

1 An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers Theresa Steckel, RN, BSN Newborn Screening Quality Assurance and Education Coordinator Oklahoma State Department of Health

2 Two-Tier Screen Immunoreactive Trypsinogen (IRT) Values Out-of-range: 65 ng/ml (Performed by OSDH on each Filter Paper) Yes Out-of-Range No DNA Analysis Performed by OSDH Public Health Lab Report In-Range

3 Mutation Panel = F508 A455E kbC>T 2183AA>G I G>A W1282X 2307insA G542X R560T N1303K Y1092X G85E R553X 394delTT M1101K G551D Y122X S1255X G>A R347H 3876delA 621+1G>T 2184delA V520F 3905insT 711+1G>T G>A A559T G>A S549N R334W R1162X S549R T>G 1078delT R347P 3659delC G>T R117H I148T Reflex: F508C,I507V,I506V, 5T/7T/9T

4 IRT ng/ml Yes CF Mutation(s) Detected No Refer for Sweat Test & Targeted CF Newborn Screening Genetic Counseling Not Consistent with Cystic Fibrosis

5 Yes IRT > 170 ng/ml CF Mutation(s) Detected No Refer for Sweat Test & Targeted CF Newborn Screening Genetic Counseling As of January 1, 2007 OSDH does not follow zero mutations. IRT> 65 with Zero Mutations "Not Consistent with Cystic Fibrosis unless symptomatic or if there is a Family History of CF. Protocol to

6 Sweat Testing OSDH contracts with two sweat testing centers in Oklahoma Each Center provides sweat testing for OSDH referrals on a designated newborn screening day Tulsa: Friday Oklahoma City: Monday

7 Confirmatory Sweat Testing Two Sweat Testing Centers Oklahoma City Tulsa

8 Sweat Testing Funded by newborn screening fee $75.00 per sweat test Do not pay for QNS The Sweat Testing Center forwards a copy of the sweat test result to short-term-followup (STFU) STFU forwards the sweat test result to the PCP by fax

9 Genetic Counseling OSDH contracts with The University of Oklahoma, Health Sciences Center/ Depart of Pediatrics, Section of Genetics Genetic Counselors are housed in Oklahoma City and travel to Tulsa weekly

10 Genetic Counseling Occurs at the time of sweat testing Contract requires face-to-face counseling by Board Certified or Board Eligible Genetic Counselor GC meets with the family to interpret sweat test results and communicate complex genetic information including the results of the DNA mutation analysis

11 Genetic Counseling Funded by the Newborn Screening Fee Cost for Genetic Counseling Session Oklahoma City: $ Tulsa: $ (professional time) Other Costs Travel to Tulsa

12 Coordinating & Scheduling Sweat Test & Genetic Counseling STFU notifies PCP Family Appropriate sweat testing center Genetic Counselor

13 PCP is notified of out-of range CF result Fax, Phone Call, and Letter The PCP is responsible for Notifying the family and Scheduling the sweat test Provided with Mother s contact information, CF Fact Sheet, and Instructions to schedule the sweat test.

14 Parents receive a letter from STFU Screened for Cystic Fibrosis Your baby s test indicates more testing is needed. Test is called a sweat test. Instructed to contact their health care provider. Provided with contact information for the sweat testing centers. Directions to the sweat testing center with a map. Free genetic counseling provided.

15 Coordinating Sweat Testing and Genetic Counseling Sweat Testing Center (Tulsa or OKC) Probable testing center notified of Newborn Screening referral via fax from STFU. Genetic Counselor Notified of Newborn Screening result and referral via fax from STFU. Probable testing center is indicated on the fax transmittal The testing centers communicate directly with the genetic counselors to coordinate the counseling appointments.

16 Genetic Counseling Follow-Up Genetic Counselor submits a Report Form to STFU following the genetic counseling session Provides documentation of components covered during the genetic counseling session. Sweat Test Results Genetic Information Recommendations

17 GC Report Form Developed by OSDH Genetic Counselor during the planning stages. Ensures quality of the services provided. Ensures specific information is communicated to the family. Facilitates consistency of services provided. Check Box format

18 Report Form General Information Infant s Name Date of Counseling Session Name of Genetic Counselor Family Members Present Date of Sweat Test and Time Sweat testing site Sweat test results DNA results (one or two mutations) Family Carrier Testing (Yes, No, Undecided) not provided by OSDH

19 Report Form Check all that apply: No show for sweat testing No show for genetic counseling Family refused counseling Session not performed on the same day as the sweat test

20 Report Form Client Assessment Information Provided and Discussed Counseling Components (Varies by Test Results) No Mutations, negative sweat One mutation, negative sweat Two mutations, negative sweat Zero to One mutation, positive sweat Two mutations, positive sweat test Zero to two mutations, with borderline sweat

21 Zero to two mutations present, with borderline sweat test Two (status mutations unknown) present, the session negative shall sweat include: test the session shall include: Natural history including variability of clinical phenotype Natural Limitations History of test including variability of clinical phenotype No Mutations, of Negative Sweat including Test Explanation of inheritance pattern to include recurrence risk risk if Explanation applicable Limitations of risk of testing to other family members and plan for relaying information Explanation Other causes of risk of to elevated other family IRT members (possible and carrier plan for of Future relaying mutation reproductive information not on options panel) Further Future Encouraged testing reproductive options regular options (repeat check-ups DNA analysis with pediatrician and parental carrier testing) Further testing options Discussed genotype-phenotype correlations if if known Recommended additional repeat genetic counseling if indicated Addressed Referred to psychosocial CF specialty issues clinic if including two mutations anticipatory were guidance present and Addressed reaction psychosocial to diagnosis issues including anticipatory Referred guidance to and CF reaction specialty to clinic diagnosis and provided resources Provided resources

22 GC Letter to family Summarizes session Lists IRT DNA Mutations Confirmatory Sweat Test Results Follow-Up Recommendations Maximum 14 days following session Forwarded to PCP by STFU

23 Referral to CF Center Infants are not referred to the CF Center until after sweat testing. Positive Sweat Test Two Mutations Two Borderlines Sweat Test

24 Lessons Learned Learning Curve for providers Second Tier Out-of-range results: Not Consistent with CF Sweat Test Referrals Contracting with Genetic Counselors Style of communication and follow-up different then OSDH. Worked closely with them to refined follow-up letter. Timing of letter (14 days) Insist counseling is face-to-face Meticulous planning eventually resulted in a successful and streamlined screening protocol.

25 Challenges LBW infants - Extended care in NICU Sweat test performed in non-contracted lab Consulted with specialist. Genetic Counseling Scheduled at another time. A few infants were scheduled on the wrong day Escaped or refused genetic counseling

26 Challenges Expired Infants with a Mutation Detected Family is sent a letter developed by nurse and genetic counselor A physician is notified Neonatologist Delivering Physician Family Physician Offer free genetic counseling

27 Statistics Babies Identified at risk for CF 188 one mutation 19 two mutations 28 zero mutations (no cases) 97% (227) received confirmatory sweat test 8 infants with zero mutations had in-range repeat filter papers 97% (220) received genetic counseling 94% (220) of total received face to face genetic counseling 85% received initial sweat test by 30 days of age (work group goal)

28 Expansion of GC Services Genetic Counseling is now offered for all genetic disorders including Hemoglobin Trait. Trait Counseling $ per session GC letter is not required. Pamphlet was developed (OSDH nurse and OSDH genetic counselor)

29 Acknowledgements University of Oklahoma Health Sciences Center Susan Hassed, CGC John Mulvihill, MD Oklahoma State Department of Health Edd Rhoades, MD, MPH Pam King, MPA, RN Paula Vann, BSN, RN Terry Geisler, LPN Mary Beth Wilhelm, AA

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