CF Carrier Screening Practice Guidelines: Lessons Learned

1
CF Carrier Screening Practice Guidelines Lessons
Learned

• Deborah A. Driscoll, MD
• Department of Obstetrics Gynecology
• University of Pennsylvania Health System

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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

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Goal of CF Carrier Screening

• Identify couples at risk for having children with
  classic CF
• Allow couple to make informed reproductive
  decision

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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

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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?
• Providers 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

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Evaluation of CF carrier screening experience in
U.S.

• Laboratory practice and mutation panel
• Practitioner experience with implementation of CF
  carrier screening

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How familiar are ObGyns with CF carrier
screening guidelines?Does this impact their
knowledge and practice behavior?
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CF Carrier ScreeningPractice 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 meanSEM

Morgan MA et al. (2003) Practice patterns of
obstetrician-gynecologists regarding
preconception and prenatal screening for cystic
fibrosis. Genet Med. 6(5)450-5.
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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)

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CF Carrier Screening in PregnancyPractice
Patterns of Ob/Gyns

• Offer to all patients 65.8
• Offer to some patients 32
• At patients request 67.1
• Family history 61.8
• Partner with CF 51.2
• Ethnicity 46.7
• All of above 27.4
• Never offer 2.2

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Preconception CF Carrier Screening Practice
Patterns of Ob/Gyns

• Offer to all patients 13
• Offer to some patients 67.7
• At patients request 80.1
• Family history 54.7
• Partner with CF 43.6
• Ethnicity 25.2
• All of above 18
• Never offer 19

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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

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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

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ObGyns Concerns about CF Carrier Screening
higher among MDs 15 years from residency
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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

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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

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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 3149-54.
• 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 93456-61.