Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic
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ASSISTED REPRODUCTION TECHNOLOGIES
Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic Amy Vance 1 Received: 5 May 2020 / Accepted: 23 June 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
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. Keywords Genetic counseling . Family history . Screening
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. Genetic counselors are professionals trained to collect and analyze detailed family history information for genetic disorders. Guidelines from the Practice Committee of American Society for Reproductive Medicine (ASRM) [1, 2] suggest a thorough evaluation including a physical exam, laboratory testing, review of personal and family history of genetic disease, as well as prior genetic test results (e.g., chromosome analysis, carrier screening) that could affect the course of treatment. The guidelines further state that patients should be 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, only then is referral to a genetics specialist recommended. Despite the growing use of genetic counseling related to genetic testing in the IVF setting, it is still not routine for clinics
to utilize the genetic counselor’s skills for family history assessment for couples pre-IVF. The value of routine family history risk assessment by a genetic counselor has been demonstrated in a study of almost 700 couples undergoing IVF at one fertility center, comparing questionnaire results with family history obtained by a genetic counselor [3]. Similar findings occurred when evaluating family histories of over 700 ovum donors from a single agency [4]. A study utilizing genetic counselors to perform chart review for the
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