Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic

Abstract

The family history is the cornerstone of the genetic risk assessment. Taking a detailed family history helps ensure that important genetic information is not overlooked and that any appropriate testing and/or information is provided to the patient prior to pregnancy. Guidelines from the American Society for Reproductive Medicine (ASRM) suggest a review of personal and family history of genetic disease and prior genetic test results that may affect the course of treatment, with patients being counseled about additional genetic testing that may be indicated before starting treatment relating to their personal or family history. When issues arise as a result of this evaluation, referral to a genetics specialist is recommended. As the following cases demonstrate, implementation of a routine genetic counseling screening program for all patients using assisted reproductive technology (ART) provides immense benefits so that important indications for referral to a genetic counselor are not missed.