Beyond the “Jewish panel”: the importance of offering expanded carrier screening to the Ashkenazi Jewish population

Genetics

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VOLUME 1, ISSUE 3, P294-298, DECEMBER 01, 2020

Authors:

Shelley Dolitsky, M.D., Anjali Mitra, M.D., Shama Khan, M.P.H., M.S., L.C.G.C., Elena Ashkinadze, M.S., L.C.G.C., Mark V. Sauer, M.D., M.S.

Abstract:

Objective

To assess whether or not the current American College of Obstetricians and Gynecologists (ACOG) recommendations regarding carrier screening are sufficiently robust in detecting mutations in the Ashkenazi Jewish (AJ) population.


Design

Cross-sectional study.


Setting

Outreach program at university community center.


Patient(s)

Self-identified Jewish students, 18–24 years of age, interested in genetic carrier testing.


Intervention(s)

Expanded carrier screening (ECS) with the use of a commercially available targeted genotyping panel including >700 mutations in 180 genes.


Main Outcome Measure(s)

Gene mutations found in this population were grouped into three categories based on ACOG’s 2017 committee opinion regarding carrier screening: category 1: the four commonly recommended genetic conditions known to be a risk for this population; category 2: 14 genetic disorders that should be considered for more comprehensive screening, including those of category 1; and category 3: the ECS panel, which includes category 2.


Result(s)

A total of 81 students underwent screening and 36 (44.4%) were ascertained to be carriers of at least one mutation. A total of 45 mutations were identified, as 8 students were carriers for more than one condition. If testing were limited to category 1, 84% of the mutations would not have been identified, and if limited to category 2, 55% of mutations would have gone undetected.


Conclusion(s)

Individuals of Ashkenazi Jewish descent are at significant risk for carrying a variety of single-gene mutations and therefore they should be offered panethnic ECS to increase the likelihood of detecting preventable disorders.

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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