Aishwarya Arjunan1,2, Karen Litwack2, Nick Collins3, Joel Charrow1,2. 1. The Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. 2. The Center for Jewish Genetics, Chicago, Illinois, USA. 3. Department of Genetics, Counsyl Inc., South San Francisco, California, USA.
Abstract
PURPOSE: The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. METHODS: Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. RESULTS: Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. CONCLUSION: In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.
PURPOSE: The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. METHODS: Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. RESULTS: Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. CONCLUSION: In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.
Authors: Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá Journal: J Assist Reprod Genet Date: 2022-01-29 Impact factor: 3.412
Authors: Sumit Punj; Yassmine Akkari; Jennifer Huang; Fei Yang; Allison Creason; Christine Pak; Amiee Potter; Michael O Dorschner; Deborah A Nickerson; Peggy D Robertson; Gail P Jarvik; Laura M Amendola; Jennifer Schleit; Dana Kostiner Simpson; Alan F Rope; Jacob Reiss; Tia Kauffman; Marian J Gilmore; Patricia Himes; Benjamin Wilfond; Katrina A B Goddard; C Sue Richards Journal: Am J Hum Genet Date: 2018-05-10 Impact factor: 11.025