title: Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
abstract: Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population prefers a limited ancestry-based offer or a pan-ethnic expanded carrier screening panel that goes beyond the diseases that are frequent in their own population, and is offered regardless of ancestry. An online questionnaire was completed by 145 individuals from the Dutch Jewish community (≥ 18 years) between April and July 2014. In total, 64.8% were aware of the existence of ancestry-based carrier screening, and respondents were generally positive about screening. About half (53.8%) preferred pan-ethnic expanded carrier screening, whereas 42.8% preferred ancestry-based screening. Reasons for preferring pan-ethnic screening included 'everyone has a right to be tested', 'fear of stigmatization when offering ancestry-based panels', and 'difficulties with identifying risk owing to mixed backgrounds'. 'Preventing high healthcare costs' was the most important reason against pan-ethnic carrier screening among those in favor of an ancestry-based panel. In conclusion, these findings show that people from the Dutch Jewish community have a positive attitude regarding carrier screening in their community for a wide range of diseases. As costs of expanded carrier screening panels are most likely to drop in the near future, it is expected that these panels will receive more support in the future.
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Kim C A
authors.initials: KC
authors.lastname: Holtkamp
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Merel C
authors.initials: MC
authors.lastname: van Maarle
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Maria J E
authors.initials: MJ
authors.lastname: Schouten
authors.affiliation: Department of Health, Ethics and Society, Research Institutes CAPHRI and GROW, Maastricht University, Maastricht, The Netherlands.
authors.forename: Wybo J
authors.initials: WJ
authors.lastname: Dondorp
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Phillis
authors.initials: P
authors.lastname: Lakeman
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Lidewij
authors.initials: L
authors.lastname: Henneman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D018703:Founder Effect; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011795:Surveys and Questionnaires