Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A <b><i>BRCA</i></b> Pilot Study

Abstract

<b><i>Introduction:</i></b> Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a <i>BRCA</i> mutation, which is 10 times the general population risk. JScreen launched the PEACH <i>BRCA</i> Study, a telehealth-based platform for <i>BRCA</i> education and testing, with the goal of creating an effective model for <i>BRCA</i> testing in low-risk AJ individuals who do not meet national testing criteria. Other goals were to determine the rate of <i>BRCA</i> 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. <b><i>Methods:</i></b> 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 <i>BRCA</i>-related cancers. Pre-test education was provided through a video and written summary, followed by complimentary <i>BRCA1/2</i> 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. <b><i>Results:</i></b> 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 <i>BRCA</i> 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. <b><i>Conclusions:</i></b> The <i>BRCA</i> 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.