Carrier screening in the era of expanding genetic technology

Aishwarya Arjunan*, Karen Litwack, Nick Collins, Joel Charrow

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1214-1217
Number of pages4
JournalGenetics in Medicine
Volume18
Issue number12
DOIs
StatePublished - Dec 1 2016

Keywords

  • Ashkenazi Jewish
  • Jewish genetic diseases
  • carrier screening
  • genetic testing
  • next-generation sequencing

ASJC Scopus subject areas

  • Genetics(clinical)

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