CF Carrier Screening Practice Guidelines: Lessons Learned

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. History of CF Carrier Screening. 1989: CFTR gene

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CF Carrier Screening Practice Guidelines: Lessons Learned

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1. CF Carrier Screening Practice Guidelines: Lessons Learned Deborah A. Driscoll, MD Department of Obstetrics & Gynecology University of Pennsylvania Health System

2. History of CF Carrier Screening 1989: CFTR gene & common mutation identified in CF patients 1997: NIH Consensus Development Conference First call for population-based screening 1997: NIH workshop Recommend development of guidelines, educational material, informed consent, laboratory standards 2001: ACOG/ACMG Clinical & Laboratory Guidelines

3. Goal of CF Carrier Screening Identify couples at risk for having children with classic CF Allow couple to make informed reproductive decision

4. Purpose of Guidelines Facilitate Implementation of CF carrier screening Educate physicians Provide recommendations on who should be offered CF carrier screening Provide materials to assist with implementation Consents, sample patient letters, patient education brochures

5. Initial Concerns with CF Carrier Screening Improper use of testing Prenatal carrier screening versus diagnostic testing Use of expanded panels or DNA sequencing Adequacy of pre-test counseling Are patients making informed decisions or has CF carrier screening become a routine test? Provider’s interpretation of test results & provision of post-test counseling Are patients receiving a revised risk assessment or simply being told the test result is negative or positive? Documentation

6. Evaluation of CF carrier screening experience in U.S. Laboratory practice and mutation panel Practitioner experience with implementation of CF carrier screening

7. How familiar are ObGyns with CF carrier screening guidelines? Does this impact their knowledge and practice behavior? Discuss methodologyDiscuss methodology

8. CF Carrier Screening Practice Patterns of Ob/Gyns Questionnaire mailed to 1165 ACOG fellows in Sept. 2003 600 randomly selected 565 Collaborative Ambulatory Research Network (CARN) 64% response rate (57.9% CARN) Analysis Mann Whitney U test for group differences on ordinal measures Univariate analysis of variance with gender and residency as fixed factors for group differences of continuous measures Descriptive statistics reported as mean+SEM

9. ObGyn Practice Patterns Routinely inquire about family history of CF Pregnant 88.7% Non-pregnant 13.5 Only if attempting pregnancy (36.4%) Always provide information regarding screening Pregnant 86.6% Non-pregnant 6.3 Only if attempting pregnancy (38.4%)

10. CF Carrier Screening in Pregnancy Practice Patterns of Ob/Gyns Offer to all patients 65.8% Offer to some patients 32 At patient’s request 67.1 Family history 61.8 Partner with CF 51.2 Ethnicity 46.7 All of above 27.4 Never offer 2.2

11. Preconception CF Carrier Screening Practice Patterns of Ob/Gyns Offer to all patients 13% Offer to some patients 67.7 At patient’s request 80.1 Family history 54.7 Partner with CF 43.6 Ethnicity 25.2 All of above 18 Never offer 19

12. How familiar are ObGyns with CF carrier screening guidelines? Majority (82%) aware of recommendations to offer CF carrier testing Majority admitted their practice pattern had changed esp. the readers and skimmers (63.7%) Individuals who read the document (19.2%) more likely to answer correctly except on more complex scenarios such as interpretation of results/risk assessment

13. How familiar are ObGyns with CF carrier screening guidelines? A Caucasian couple has CF carrier screening. The woman is found to be a carrier and her partner has a negative CF carrier screening test. How would you describe their chance of having a child with CF compared to the Caucasian population that has not had the screening test? Lower, Higher or about the same 22% score correctly

14. ObGyns Concerns about CF Carrier Screening

15. Summary Majority are offering CF carrier screening in prenatal setting Most offer routinely and do not use criteria to determine which patients to offer screening Most do not offer preconception carrier screening unless patient requests, family history or affected partner

16. Lessons Learned Guidelines influence practice behavior Guidelines are important source of information Keep guidelines simple Continuing medical education on genetics and CF needed to increase comfort level We need to do educate public and practitioners about the benefits of preconception screening Utilize alternative venues to reach all providers about new guidelines

17. References Watson M et al. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6: 387-91. Grody WW et al. (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149-54. Morgan MA et al. (2005) Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol 105: 1355-61. Morgan MA et al. (2004) Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genet Med 6: 450-5. Watson MS et al. (2002) Cystic fibrosis carrier screening: issues in implementation.Genet Med. 4: 407-9. Mennuti MT et al. (1999) Screening for cystic fibrosis carrier state. Obstet Gynecol 93:456-61.

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