An Effective Model to Communicate Complex

Genetic Information to Families and Health Care Providers

Theresa Steckel, RN, BSNNewborn Screening Quality Assurance and

Education CoordinatorOklahoma State Department of Health

Two-Tier Screen

DNA AnalysisPerformed by OSDH

Public Health Lab

Immunoreactive Trypsinogen (IRT) ValuesOut-of-range: ≥ 65 ng/ml

(Performed by OSDH on each Filter Paper)

Report In-Range

Yes NoOut-of-Range

Mutation Panel = 40 + 4∆F508 A455E 3849+10kbC>T 2183AA>G∆I507 1717-1G>A W1282X 2307insAG542X R560T N1303K Y1092XG85E R553X 394delTT M1101KG551D Y122X S1255X 1898+1G>AR347H 3876delA 621+1G>T 2184delAV520F 3905insT 711+1G>T 2789+5G>AA559T 3120+1G>A S549N R334WR1162X S549R T>G 1078delT R347P3659delC 1898+5G>T R117H I148T Reflex: F508C,I507V,I506V, 5T/7T/9T

IRT 65 – 169 ng/ml

CF Mutation(s) Detected

“Not Consistent with Cystic Fibrosis”

Yes

Refer for Sweat Test &Targeted CF

Newborn Screening

Genetic Counseling

No

IRT > 170 ng/ml

CF Mutation(s) DetectedYes

Refer for Sweat Test &Targeted CF Newborn Screening Genetic

Counseling

No

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 2-14-05 to 12-31-06

Sweat TestingOSDH contracts with two sweat testing centers in OklahomaEach Center provides sweat testing for OSDH referrals on a designated newborn screening day

Tulsa: FridayOklahoma City: Monday

Confirmatory Sweat Testing

Two Sweat Testing Centers

Oklahoma City

Tulsa

Sweat Testing

Funded by newborn screening fee$75.00 per sweat test

Do not pay for QNSThe Sweat Testing Center forwards a copy of the sweat test result to short-term-follow-up (STFU)

STFU forwards the sweat test result to the PCP by fax

Genetic Counseling

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

Genetic Counseling

Occurs at the time of sweat testingContract requires face-to-facecounseling by Board Certified or Board Eligible Genetic CounselorGC meets with the family to interpret sweat test results and communicate complex genetic information including the results of the DNA mutation analysis

Genetic Counseling

Funded by the Newborn Screening FeeCost for Genetic Counseling Session

Oklahoma City: $125.00Tulsa: $185.00 (professional time)

Other CostsTravel to Tulsa

Coordinating & SchedulingSweat Test &

Genetic CounselingSTFU notifies

PCPFamilyAppropriate sweat testing centerGenetic Counselor

PCP is notified of out-of range CF result

Fax, Phone Call, and LetterThe PCP is responsible for

Notifying the family andScheduling the sweat test

Provided with Mother’s contact information,CF Fact Sheet, and Instructions to schedule the sweat test.

Parents receive a letter from STFU

Screened for Cystic FibrosisYour 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.

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 transmittalThe testing centers communicate directly with the genetic counselors to coordinate the counseling appointments.

Genetic Counseling Follow-Up

Genetic Counselor submits a Report Form to STFU following the genetic counseling sessionProvides documentation of components covered during the genetic counseling session.Sweat Test ResultsGenetic InformationRecommendations

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

Report FormGeneral Information

Infant’s NameDate of Counseling SessionName of Genetic CounselorFamily Members PresentDate of Sweat Test and TimeSweat testing siteSweat test resultsDNA results (one or two mutations)Family Carrier Testing (Yes, No, Undecided)

not provided by OSDH

Report Form

Check all that apply:No show for sweat testingNo show for genetic counselingFamily refused counselingSession not performed on the same day as the sweat test

√

√

Report FormClient AssessmentInformation Provided and DiscussedCounseling 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

No Mutations, Negative Sweat TestLimitations of testing Other causes of elevated IRT (possible carrier of mutation not on panel)Encouraged regular check-ups with pediatrician

Two mutations present, negative sweat test the session shall include:

Natural History including variability of clinical phenotypeExplanation of inheritance pattern including recurrence riskExplanation of risk to other family members and plan for relaying informationFuture reproductive optionsFurther testing options (repeat DNA analysis and parental carrier testing)Discussed genotype-phenotype correlations if knownRecommended additional genetic counseling if indicatedAddressed psychosocial issues including anticipatory guidance and reaction to diagnosisReferred to CF specialty clinic and provided resources

Zero to two mutations present, with borderline sweat test (status unknown) the session shall include:

Natural history including variability of clinical phenotypeLimitations of testExplanation of inheritance pattern to include recurrence risk ifapplicableExplanation of risk to other family members and plan for relaying informationFuture reproductive optionsFurther testing options Discussed genotype-phenotype correlations if knownRecommended repeat genetic counselingReferred to CF specialty clinic if two mutations were presentAddressed psychosocial issues including anticipatory guidance and reaction to diagnosisProvided resources

GC Letter to familySummarizes sessionLists

IRTDNA MutationsConfirmatory Sweat Test Results

Follow-Up Recommendations Maximum 14 days following sessionForwarded to PCP by STFU

Referral to CF Center

Infants are not referred to the CF Center until after sweat testing.

Positive Sweat TestTwo MutationsTwo Borderlines Sweat Test

Lessons LearnedLearning Curve for providers

Second TierOut-of-range results: “Not Consistent with CF“

Sweat Test ReferralsContracting 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-faceMeticulous planning eventually resulted in a successful and streamlined screening protocol.

ChallengesLBW infants - Extended care in NICU

Sweat test performed in non-contracted labConsulted with specialist.Genetic Counseling Scheduled at another time.

A few infants were scheduled on the “wrong” day

Escaped or refused genetic counseling

Challenges

Expired Infants with a Mutation Detected

Family is sent a letter developed by nurse and genetic counselorA physician is notified

NeonatologistDelivering PhysicianFamily PhysicianOffer free genetic counseling

Statistics 2005-2006235 Babies Identified at risk for CF

188 one mutation19 two mutations28 zero mutations (no cases)

97% (227) received confirmatory sweat test8 infants with zero mutations had in-range repeat filter papers97% (220) received genetic counseling

94% (220) of total received face to face genetic counseling85% received initial sweat test by 30 days of age (work group goal)

Expansion of GC Services

Genetic Counseling is now offered for all genetic disorders including Hemoglobin Trait.Trait Counseling

$100.00 per sessionGC letter is not required.Pamphlet was developed (OSDH nurse and OSDH genetic counselor)

Acknowledgements

University of Oklahoma Health Sciences Center

Susan Hassed, CGCJohn Mulvihill, MD

Oklahoma State Department of HealthEdd Rhoades, MD, MPHPam King, MPA, RNPaula Vann, BSN, RNTerry Geisler, LPNMary Beth Wilhelm, AA