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


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


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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