Precision reproductive medicine: multigene panel testing for infertility risk assessment

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.