Expanded genetic screening panel for the Ashkenazi Jewish population

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Brett BaskovichCarole Oddoux

Abstract

Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown. Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review. A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders. Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.Genet Med 18 5, 522-528.

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Citations

May 29, 2016·Clinics in Laboratory Medicine·Ruofan Yao, Katherine R Goetzinger
May 26, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fady Hannah-ShmouniDeborah P Merke
Nov 17, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joël ZlotogoraVardiella Meiner
Dec 15, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Brett BaskovichKinnari Upadhyay
Oct 31, 2019·Journal of Genetic Counseling·Lynne S RosenblumNatalia T Leach
Dec 28, 2019·Journal of Community Genetics·Jeanette YuenLesley Andrews
Sep 26, 2017·Molecular Genetics & Genomic Medicine·Guy diSibioHarry Ostrer
Dec 15, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joël Zlotogora, Vardiella Meiner
Sep 25, 2017·Human Reproduction·Carolina Vaz-de-Macedo, Joyce Harper
Mar 9, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael H Guo, Anthony R Gregg
Oct 19, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hila FridmanEphrat Levy-Lahad
May 10, 2020·Journal of Community Genetics·Anne E Reed-WestonJulia Wynn

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