ABSTRACT
INTRODUCTION: Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a BRCA mutation, which is 10 times the general population risk. JScreen launched the PEACH BRCA Study, a telehealth-based platform for BRCA education and testing, with the goal of creating an effective model for BRCA testing in low-risk AJ individuals who do not meet national testing criteria. Other goals were to determine the rate of BRCA mutations in this group, to assess the adequacy of screening for the 3 common AJ founder mutations only, and to assess satisfaction with the telehealth model to help inform a national launch of a broader cancer genetic testing program. METHODS: Criteria for participation included those who were AJ, resided in the metro-Atlanta area, were aged 25 and older, and had no personal or close family history of BRCA-related cancers. Pre-test education was provided through a video and written summary, followed by complimentary BRCA1/2 sequencing and post-test genetic counseling. Participants responded to pre- and post-test surveys, which assessed knowledge and satisfaction. Those who were not eligible to participate were sent genetic counseling resources and later surveyed. RESULTS: Five hundred one participants were tested and the results included 4 positives (0.8% positivity rate), 494 negatives, and 3 variants of uncertain significance. Overall satisfaction with the study process was high (96.9/100), knowledge about BRCA was high (97.5% of participants passed a pre-test knowledge quiz), and satisfaction with pre- and post-test education was high (97.9% of participants were satisfied with the pre-test video and written summary, and 99.5% felt that their post-test genetic counseling session was valuable). Many participants expressed interest in receiving broader cancer testing. CONCLUSIONS: The BRCA founder mutation rate in a low-risk AJ population was significantly lower than the previously established AJ rate of 1 in 40. It was also determined that a telehealth model for a cancer genetics program is effective and acceptable to the population tested. This study established interest in broader cancer genetic testing through a telehealth platform and suggested that testing may be successful in the Jewish community at a national level and potentially in other populations, provided that patient education and genetic counseling are adequately incorporated.
ABSTRACT
BACKGROUND/AIMS: Access to preconception carrier screening, which provides at-risk couples with more reproductive options, is critically important. To address this need in the Jewish community, genetic counselors at Emory University launched JScreen (www.jscreen.org), a national online genetic disease education and carrier screening program. To reach the preconception demographic, JScreen initiated a study evaluating the impact of marketing and education on knowledge and screening activity on college campuses. METHODS: Students at 10 universities were targeted with a marketing campaign designed for this initiative. Those who elected screening were provided pre-test video education designed for the study. Success was assessed through enrollment in testing, comparison of pre- and post-education knowledge quizzes, and patient satisfaction surveys evaluating genetic counseling and the JScreen process. RESULTS: A total of 1,794 participants were enrolled. Over 99% of those screened were not pregnant. Knowledge quiz scores improved significantly post-education, and patient satisfaction was over 98%. CONCLUSIONS: Findings suggested that the use of targeted marketing helped promote preconception screening in this population. The study demonstrated that video education was effective in educating participants about benefits and limitations of testing. Also, the use of telehealth technology facilitated access to professional genetic counseling services. This study serves as a model for future public health initiatives.
