Discrepancies between application and genetic consultation during routine ovum donor screening in large fertility...

To compare the personal and family medical history information obtained from a written application to a formal genetic risk assessment performed in consultation with a certified genetic counselor, as well as categorize and qualify any discrepant information.

This was a retrospective cohort study of female subjects applying to become deidentified ovum donors, between ages 21 and 31 and who were determined to be eligible candidates with initial application and interview. Information provided by prospective ovum donors in their self-reported written application was compared to their genetic risk assessment performed in consultation with a certified genetic counselor, which documents family demographics and health history for a minimum of three generations. Discrepancies were categorized as relating to a health change or no health change (demographic) and then grouped by number of changes. Demographic changes included ages, number of family members, and age at time of death. Health changes were any new information relating to a health condition in prospective ovum donors and/or any family members.

A total of 600 randomly selected ovum donor applications and the associated genetic risk assessments were compared; 84% of these applicants reported novel health information during the genetic risk assessment. Of the total 600, 19% no longer met American Society of Reproductive Medicine (ASRM) or internal program guidelines for eligibility.

Genetic risk assessment performed by a certified genetic counselor provides a more comprehensive representation of personal and family medical history and accurate assessment of the eligibility of an ovum donor compared to self-reported information alone.