Exome and genome sequencing in reproductive medicine

Next-generation sequencing simultaneously as- sesses many genes at high resolution, which is useful in cases of nonspecific phenotypes or genetic hetero- geneity. The many benefits and challenges this brings are discussed.
Exome and genome sequencing in reproductive medicine

Volume 109, Issue 2, Pages 213–220

Authors:

Elizabeth A. Normand, Ph.D., Joseph T. Alaimo, Ph.D., Ignatia B. Van den Veyver, M.D.

Abstract:

The advent of next-generation sequencing has enabled clinicians to assess many genes simultaneously and at high resolution. This is advantageous for diagnosing patients in whom a genetic disorder is suspected but who have a nonspecific or atypical phenotype or when the disorder has significant genetic heterogeneity. Herein, we describe common clinical applications of next-generation sequencing technology, as well as their respective benefits and limitations. We then discuss key considerations of variant interpretation and reporting, clinical utility, pre- and posttest genetic counseling, and ethical challenges. We will present these topics with an emphasis on their applicability to the reproductive medicine setting.


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