Expanded carrier screening (ECS) enables reproductive couples to assess the risk of hundreds of inherited conditions in their offspring, surpassing the capabilities of smaller panels based on ancestry or family history. With a limited number of genetics professionals available to counsel patients on the testing, the responsibility often falls on non-genetic healthcare providers such as family medicine or obstetrics and gynecology physicians who often interact with reproductive couples. This study assessed Obstetrics and Gynecology (OBGYN) and Family Medicine (FM) resident trainees' current knowledge level of ECS to assess the need for further education. In addition, it identified barriers and factors reported by these physicians influencing their ordering practices in order to develop future strategies targeted to address these challenges. The findings from this study highlight that OBGYN and FM resident trainees have low baseline knowledge pertaining to expanded carrier screening and relevant professional guidelines. However, a single, live, case-based educational session significantly impacts their knowledge of ECS, awareness of professional guidelines, anticipated carrier screening ordering practices, and comfort and confidence in counseling about the testing. OBGYN and FM resident trainees reported the largest barrier to ordering ECS being lack of time with patient and the least reported, testing turnaround time. The factor most considered when choosing an ECS panel was a patient’s family history, and the least common factor was the laboratory performing testing. Ultimately, the findings of this study highlight the importance of incorporating more comprehensive and ongoing carrier screening education for non-genetics providers to ensure they have the confidence and knowledge needed for their patients.

During the prenatal genetic counseling session, women are given various genetic testing options to evaluate the health of their pregnancy and often seek advice from their male partner whether testing, and which test, should be chosen. Past studies have examined how women make prenatal genetic testing decisions, but little has been studied regarding how the male partner assesses prenatal genetic testing, or the effect of the male partner’s involvement in genetic testing decisions. 30 women who came alone and 55 couples at two sites were surveyed following their genetic counseling appointment regarding their genetic testing decisions and were asked to rank the importance of various factors affecting their decisions. Women alone were significantly less likely to be married, more likely to act as the primary decision-maker during pregnancy and reported that their male partner’s impact on the genetic testing decision was lower. According to this study, women presenting for prenatal genetic counseling alone, regardless of why they came alone, are more likely to be confident making decisions independently of their partners. Therefore, prenatal genetic counselors should focus on how these women make decisions autonomously. Women presenting with their partners will rely more heavily on a shared decision-making model, incorporating their male partner’s concerns. Within these couples, men are most concerned about the cost of testing or insurance worries, while women are more likely to be concerned about the pain or risk of any invasive testing. Prenatal genetic counselors can use these factors to direct shared decision-making between the couple.

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.

Objective

Study design

Results

Conclusion