UC Irvine

ABSTRACT OF THE THESIS

Expanded Carrier Screening and the Willingness of Reproductive Healthcare Providers to Use Gamete Donors Who Are Carriers for Known Recessive Conditions

By

Emily Marsh

Master of Science in Genetic Counseling

University of California, Irvine, 2017

Professor Manuel Porto, MD, Chair

Recent technological advances have made it possible to screen gamete donors for up to hundreds of conditions simultaneously. This inevitably will increase the number of donors who screen positive for being carriers of one or more recessive condition(s). This increase in donors who are found to be carriers has prompted the discussion among clinicians on how best to proceed with counseling and follow-up testing.

The purpose of this study was to gain insight on the willingness of providers to use gametes from carrier donors and, if they were willing, what type of follow-up testing would be most appropriate for the intended biological parent. This study also examined what types of carrier screening practices clinics currently have in place, and what resources clinicians would find most beneficial to both them and their patients.

Surveys were distributed to physicians, genetic counselors, nurses, and other medical professionals working in reproductive medicine. One hundred ninety-two participants began the survey, one hundred thirty-three completed with survey. The majority of all groups agreed a carrier donor need not be dismissed solely due to being a carrier of one or more recessive condition(s), but disagreed on the best way to proceed when using a carrier donor. The results also show a distribution of current screening practices among clinics.

Given these results, there exists the need for standardization and regulation of carrier screening among gamete donors beyond the current limited Society recommendations.