{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T04:15:18Z","timestamp":1771647318553,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,6]],"date-time":"2021-02-06T00:00:00Z","timestamp":1612569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The National Comprehensive Cancer Network recommends clinical\u2010grade genetic testing to confirm commercial results from direct\u2010to\u2010consumer genetic testing (DTC\u2010GT) companies and third\u2010party interpretation (TPI) services; however, the type of confirmatory testing that genetic counselors (GCs) recommend remains uncharacterized. Therefore, we aimed to describe GCs testing strategies for patients who have already obtained DTC\u2010GT results (23andMe) or TPI data (Promethease) that reported a <jats:italic>BRCA1\/2<\/jats:italic> pathogenic variant. We invited GCs specializing in clinical cancer genetics to complete an online survey distributed to members of the National Society of Genetic Counselors. The survey, completed by 80 respondents, contained case scenarios featuring probands with variable personal and family histories of cancer. Our results show that the majority of participating GCs have counseled patients for their health\u2010related commercial test results; 94% have encountered patient DTC\u2010GT reports (3 per year), and 69% have encountered patient TPI data (2 per year). Most participating GCs would recommend confirmatory clinical\u2010grade testing for probands with a positive 23andMe <jats:italic>BRCA1\/2<\/jats:italic> result (77\/80, 96%). However, there was strong variability between the type of recommended testing. Approximately 20% recommended single\u2010site analysis, 11%\u201314% recommended the three Ashkenazi Jewish <jats:italic>BRCA1\/2<\/jats:italic> founder mutations, 4% recommended <jats:italic>BRCA1\/2<\/jats:italic> testing, and 61%\u201364% recommended multi\u2010gene panel testing. The most commonly recommended panels were split between a breast and gynecological cancer\u2010focused panel and a broad pan\u2010cancer panel. The majority of participants (98%\u2013100%) would also recommend confirmatory testing for patients with positive TPI data for <jats:italic>BRCA1\/2<\/jats:italic>. Similarly, results were mixed between those who recommended targeted, single\u2010site analysis (10%\u201315%) compared to a multi\u2010gene panel (72%\u201383%). These data show that while most GCs were uniform in their practice of recommending confirmatory testing, they are mixed in their approach to the specific type of testing they would select. These results may help inform counseling approaches and consensus for this expanding group of patients.<\/jats:p>","DOI":"10.1002\/jgc4.1380","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T19:09:47Z","timestamp":1612811387000},"page":"803-812","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic counselor approaches to <i>BRCA1\/2<\/i> direct\u2010to\u2010consumer genetic testing results"],"prefix":"10.1002","volume":"30","author":[{"given":"Sarah","family":"Burke","sequence":"first","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA"},{"name":"Genetic Risk Assessment Service H. Lee Moffitt Cancer Center and Research Institute Tampa FL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen","family":"Mork","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA"},{"name":"Department of Clinical Cancer Genetics The University of Texas MD Anderson Cancer Center Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krista","family":"Qualmann","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA"},{"name":"Department of Neurosurgery The University of Texas Health Science Center Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley","family":"Woodson","sequence":"additional","affiliation":[{"name":"Genome Medical, Inc. San Francisco CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Jin Ha","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA"},{"name":"Department of Biostatistics The University of Texas MD Anderson Cancer Center Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Banu","family":"Arun","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA"},{"name":"Department of Clinical Cancer Genetics The University of Texas MD Anderson Cancer Center Houston TX USA"},{"name":"Department of Breast Medical Oncology The University of Texas MD Anderson Cancer Center Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meagan","family":"Kaulfus","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA"},{"name":"Department of Clinical Cancer Genetics The University of Texas MD Anderson Cancer Center Houston TX USA"},{"name":"Department of Breast Medical Oncology The University of Texas MD Anderson Cancer Center Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.126"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.13"},{"issue":"10","key":"e_1_2_10_4_1","first-page":"e626","article-title":"Primary care providers\u2019 experiences with and perceptions of personalized genomic medicine","volume":"62","author":"Carroll J. C.","year":"2016","journal-title":"Canadian Family Physician"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.006"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182011636"},{"key":"e_1_2_10_7_1","article-title":"Practice Pointer: Direct\u2010to\u2010consumer genetic testing","volume":"367","author":"Horton R.","year":"2019","journal-title":"British Medical Journal"},{"key":"e_1_2_10_8_1","first-page":"1","article-title":"Direct\u2010to\u2010consumer genetic testing companies tell their customers to \u2018see a genetic counselor\u2019. How do genetic counselors feel about direct\u2010to\u2010consumer genetic testing?","volume":"00","author":"Hsieh V.","year":"2020","journal-title":"Journal of Genetic Counseling"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0097-2"},{"key":"e_1_2_10_10_1","unstructured":"National Comprehensive Cancer Network. (2020).Genetic\/Familial High\u2010Risk Assessment: Breast Ovarian and Pancreatic (version 1.2020).https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_bo.pdf"},{"key":"e_1_2_10_11_1","unstructured":"National Society of Genetic Counselors.National Society of Genetic Counselors: Blogs: At\u2010Home Genetic Testing Position Statement. (June 2019).https:\/\/www.nsgc.org\/p\/bl\/et\/blogaid=1119"},{"key":"e_1_2_10_12_1","volume-title":"Professional Status Survey","author":"National Society of Genetic Counselors","year":"2019"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-011-9471-9"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-011-9474-6"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.21170"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.38"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.7326\/M15-0995"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.340"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1380","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jgc4.1380","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1380","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T17:44:21Z","timestamp":1693417461000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.1380"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,6]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/jgc4.1380"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.1380","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,6]]},"assertion":[{"value":"2020-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}