{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:33:17Z","timestamp":1747193597345,"version":"3.40.5"},"reference-count":62,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Public Health Genomics"],"published-print":{"date-parts":[[2022]]},"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. <\/jats:p>","DOI":"10.1159\/000525658","type":"journal-article","created":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T21:00:36Z","timestamp":1660078836000},"page":"141-154","source":"Crossref","is-referenced-by-count":1,"title":["Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A <b><i>BRCA<\/i><\/b> Pilot Study"],"prefix":"10.1159","volume":"25","author":[{"given":"Esther","family":"Rose","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3126-5979","authenticated-orcid":false,"given":"Melanie Walker","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachael","family":"Gates","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5191-6479","authenticated-orcid":false,"given":"Christine","family":"Stanislaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Meisel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2158-8846","authenticated-orcid":false,"given":"Karen Arnovitz","family":"Grinzaid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"ref1"},{"key":"ref2"},{"key":"ref3"},{"key":"ref4"},{"key":"ref5"},{"key":"ref6"},{"key":"ref7"},{"key":"ref8"},{"key":"ref9"},{"key":"ref10"},{"key":"ref11"},{"key":"ref12"},{"key":"ref13"},{"key":"ref14"},{"key":"ref15"},{"key":"ref16"},{"key":"ref17"},{"key":"ref18"},{"key":"ref19"},{"key":"ref20"},{"key":"ref21"},{"key":"ref22"},{"key":"ref23"},{"key":"ref24"},{"key":"ref25"},{"key":"ref26"},{"key":"ref27"},{"key":"ref28"},{"key":"ref29"},{"key":"ref30"},{"key":"ref31"},{"key":"ref32"},{"key":"ref33"},{"key":"ref34"},{"key":"ref35"},{"key":"ref36"},{"key":"ref37"},{"key":"ref38"},{"key":"ref39"},{"key":"ref40"},{"key":"ref41"},{"key":"ref42"},{"key":"ref43"},{"key":"ref44"},{"key":"ref45"},{"key":"ref46"},{"key":"ref47"},{"key":"ref48"},{"key":"ref49"},{"key":"ref50"},{"key":"ref51"},{"key":"ref52"},{"key":"ref53"},{"key":"ref54"},{"key":"ref55"},{"key":"ref56"},{"key":"ref57"},{"key":"ref58"},{"key":"ref59"},{"key":"ref60"},{"key":"ref61"},{"key":"ref62"}],"container-title":["Public Health Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525658","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:07:30Z","timestamp":1745420850000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000525658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":62,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2022,12,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000525658","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.20453631","asserted-by":"subject"}]},"ISSN":["1662-4246","1662-8063"],"issn-type":[{"type":"print","value":"1662-4246"},{"type":"electronic","value":"1662-8063"}],"subject":[],"published":{"date-parts":[[2022]]}}}