Most studied yet least understood: Perceptions related to genetic risk and reproductive genetic screening in Orthodox Jews.

摘要

Ashkenazi Jews have long been subjected to population genetic screening and are disproportionally targeted for molecular genetic research in the identification of genes for common, complex disorders. It is therefore perplexing that the social impact of genetic technology on this population, especially its religiously devout segment (Orthodoxy), is vastly understudied.; A case-study was conducted to ascertain the impact of reproductive genetic screening on Baltimore's Orthodox Jewish (OJ) community. A combined qualitative and quantitative approach was used to ascertain basic knowledge, perceptions, and attitudes about genetic screening and prenatal diagnosis. The study used the conceptual framework of "Autokoenony" or self-in-community recognizing the strong sense of community and interconnectedness that typify the Orthodox Jewish population. To that end, the exploration of research questions took place across various stakeholder groups inside and outside the OJ community. A cross-section of the Orthodox Jewish community was sampled through purposeful and snowball recruitment for in-depth interviews. Genetic counselors and medical providers serving the target community were also targeted by purposeful sampling. The qualitative component guided the development of a survey assessing perceptions related to genetics completed by 168 persons.; A total of 98 persons (58.3% of survey participants) enrolled in some form of genetic testing, mostly premarital carrier screening reported by 77.5% of those tested. Modern Orthodox Jews were far more likely to seek genetic care outside the Orthodox community than ultra Orthodox Jews (OR = 1.6, p .001). While prenatal diagnosis is largely avoided, ultrasonographic evaluation of the fetus is a routine practice. The majority of community members felt comfortable in seeking medical care outside the Jewish community. Genetic counselors felt apprehensive about interacting with Orthodox Jews and were largely unaware of major cultural and religious needs of this population.; Results from this research can lead to educational efforts aimed at the Orthodox Jewish community and genetic professionals that stand to reduce barriers to genetic care in this population. Understanding of the impact of genetic screening on Orthodox Jews can also guide the development of policy related to the targeting of ethnically distinct communities for genetic screening.