182: Carrier screening for “Jewish” diseases in Non-Jewish populations: findings from pan-ethnic population screening

Abstract

ObjectiveEstablished screening practice for most inherited genetic diseases relies on ethnic stratification to contain healthcare costs by targeting high-prevalence populations. Genetic screening programs targeted to Ashkenazi Jewish individuals have been so successful in reducing the incidence of certain autosomal recessive diseases, such as Tay-Sachs disease, that now a majority of Tay-Sachs patients are actually non-Jewish. New multiplex testing technologies can analyze many genes at a cost similar to traditional single-gene analysis. With these technologies, targeted screening no longer confers significant cost savings.Our objective was to assess allele frequencies in non-Jewish populations and consider implications for existing carrier screening models.Study DesignOur laboratory performed routine carrier screening for 16 Jewish genetic diseases in 50,464 individuals, of whom 91.3% did not report Jewish ancestry.Results43.6% of carriers identified did not report Jewish ancestry. Ten non-Jewish ethnic groups had carriers of “Jewish” diseases; most non-Jewish carriers were of Northwestern European ancestry.ConclusionWe report carriers of Jewish diseases in many non-Jewish populations, data which aids counseling discussions of prior risk. Implications for public health burden are addressed, as this data can be considered while discussing whether changes to the ethnic-based model are merited. Though these alleles indeed occur at lower frequency in non-Jewish populations, the large population mass from an absolute standpoint, particularly of the Northwestern European population, indicates that many instances of these diseases are not detected prior to birth. ObjectiveEstablished screening practice for most inherited genetic diseases relies on ethnic stratification to contain healthcare costs by targeting high-prevalence populations. Genetic screening programs targeted to Ashkenazi Jewish individuals have been so successful in reducing the incidence of certain autosomal recessive diseases, such as Tay-Sachs disease, that now a majority of Tay-Sachs patients are actually non-Jewish. New multiplex testing technologies can analyze many genes at a cost similar to traditional single-gene analysis. With these technologies, targeted screening no longer confers significant cost savings.Our objective was to assess allele frequencies in non-Jewish populations and consider implications for existing carrier screening models. Established screening practice for most inherited genetic diseases relies on ethnic stratification to contain healthcare costs by targeting high-prevalence populations. Genetic screening programs targeted to Ashkenazi Jewish individuals have been so successful in reducing the incidence of certain autosomal recessive diseases, such as Tay-Sachs disease, that now a majority of Tay-Sachs patients are actually non-Jewish. New multiplex testing technologies can analyze many genes at a cost similar to traditional single-gene analysis. With these technologies, targeted screening no longer confers significant cost savings. Our objective was to assess allele frequencies in non-Jewish populations and consider implications for existing carrier screening models. Study DesignOur laboratory performed routine carrier screening for 16 Jewish genetic diseases in 50,464 individuals, of whom 91.3% did not report Jewish ancestry. Our laboratory performed routine carrier screening for 16 Jewish genetic diseases in 50,464 individuals, of whom 91.3% did not report Jewish ancestry. Results43.6% of carriers identified did not report Jewish ancestry. Ten non-Jewish ethnic groups had carriers of “Jewish” diseases; most non-Jewish carriers were of Northwestern European ancestry. 43.6% of carriers identified did not report Jewish ancestry. Ten non-Jewish ethnic groups had carriers of “Jewish” diseases; most non-Jewish carriers were of Northwestern European ancestry. ConclusionWe report carriers of Jewish diseases in many non-Jewish populations, data which aids counseling discussions of prior risk. Implications for public health burden are addressed, as this data can be considered while discussing whether changes to the ethnic-based model are merited. Though these alleles indeed occur at lower frequency in non-Jewish populations, the large population mass from an absolute standpoint, particularly of the Northwestern European population, indicates that many instances of these diseases are not detected prior to birth. We report carriers of Jewish diseases in many non-Jewish populations, data which aids counseling discussions of prior risk. Implications for public health burden are addressed, as this data can be considered while discussing whether changes to the ethnic-based model are merited. Though these alleles indeed occur at lower frequency in non-Jewish populations, the large population mass from an absolute standpoint, particularly of the Northwestern European population, indicates that many instances of these diseases are not detected prior to birth.