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J Assist Reprod Genet. 2017 Aug;34(8):967-973. doi: 10.1007/s10815-017-0938-y. Epub 2017 May 3.

Precision reproductive medicine: multigene panel testing for infertility risk assessment.

Author information

1
Division of Reproductive Endocrinology and Infertility, Yale School of Medicine, 150 Sargent Drive, Second Floor, New Haven, CT, 06511, USA. Stephen.c.collins@yale.edu.

Abstract

The concept of precision medicine relies on a thorough understanding of the consequences of unique features of individual patients, such as environmental exposures and genetic profiles. A key component of implementing individualized care in this paradigm will be improved assessment of genetic risk. Compared with single gene tests, multigene panel testing-which has recently become commercially available for female infertility-offers the possibility of a more comprehensive and efficient risk evaluation. However, as the use of multigene panel testing for breast cancer risk has shown, this approach must be used judiciously to ensure its usefulness in a clinical setting. Key challenges which have been encountered in oncology include the interpretation of gene variants of questionable clinical effect and a lack of evidence to guide management after variants are identified. In this review, the core concepts of multigene panel testing for risk assessment are discussed, with careful attention to both its shortcomings as well as its potential for benefit in reproductive medicine.

KEYWORDS:

Genetic predisposition to disease; Infertility; Multigene panel testing; Precision medicine; Reproductive genetics

PMID:
28470451
PMCID:
PMC5533676
DOI:
10.1007/s10815-017-0938-y
[Indexed for MEDLINE]
Free PMC Article

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