title: Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society.
abstract: OBJECTIVE
  To develop a decisional instrument for ancestry-based cystic fibrosis and/or hemoglobinopathies carrier couple screening in The Netherlands.
  
  
  METHODS
  A flowchart (Instrument A) and a questionnaire with maps of geographical areas with originally high cystic fibrosis and hemoglobinopathies carrier frequencies (Instrument B), were developed to support participants in self-assessing their eligibility as a couple for carrier screening for cystic fibrosis and/or hemoglobinopathies. The outcome was compared to the self-reported origin of both partners' ancestors during an in-depth interview. Furthermore, preference for Instrument A or B was determined.
  
  
  RESULTS
  Of the 112 participants, 88% (99/112, 95% CI 82-94%) (Instrument A) and 91% (102/112, 95% CI 86-96%) (Instrument B), respectively, arrived at a decision in accordance with their ancestral origin, and 57% (64/112, 95% CI 48-66%) preferred Instrument B. A false negative proportion of 5.5% suggests that some carriers will exclude themselves from screening. Results might improve with minor changes in the instruments with regard to geographic specification, and availability of translated versions.
  
  
  CONCLUSIONS
  A decisional instrument to assess ancestry-based eligibility for cystic fibrosis and/or hemoglobinopathies carrier screening, is now available and can with slight adaptations be used in other countries. The instrument also takes into account the possibility of mixed ancestry.
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Phillis
authors.initials: P
authors.lastname: Lakeman
authors.forename: Lidewij
authors.initials: L
authors.lastname: Henneman
authors.forename: Pieter Dirk
authors.initials: PD
authors.lastname: Bezemer
authors.forename: Martina Cornelia
authors.initials: MC
authors.lastname: Cornel
authors.forename: Leo Pieter
authors.initials: LP
authors.lastname: ten Kate
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D004641:Emigration and Immigration; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D008297:Male; D009426:Netherlands; D011795:Surveys and Questionnaires