{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:45:49Z","timestamp":1780447549707,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T00:00:00Z","timestamp":1670371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014535","name":"Center for Individualized Medicine, Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014535","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014535","name":"Center for Individualized Medicine, Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014535","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["TR000445"],"award-info":[{"award-number":["TR000445"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1"],"award-info":[{"award-number":["UL1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Advances have dated the genetic testing initially offered to evaluate for hereditary breast and ovarian cancer risks. Previous research has demonstrated that many patients have not updated testing. This study reviewed the incidence of additional analysis after an uninformative <jats:italic>BRCA1\/2<\/jats:italic> result and offered updated testing with limited barriers to those who had not completed. After viewing an educational video and providing informed consent, eligible patients were mailed a saliva collection kit to complete an 84\u2010gene hereditary cancer panel at no personal cost. A total of 704 patients had completed <jats:italic>BRCA1\/2<\/jats:italic> only testing between 2001 and 2020. Fifteen percent (<jats:italic>N<\/jats:italic>\u00a0=\u00a0102) of the 671 patients with an uninformative <jats:italic>BRCA1\/2<\/jats:italic> result had already completed expanded testing. Most, 74 of 102 (73%), had been rereferred to medical genetics during a clinical visit related to cancer care. Those who had already completed additional testing were more likely to have a personal history of cancer (92% vs. 79%, p\u00a0=\u00a00.002) and live locally (p\u00a0=\u00a00.032). Invitation to complete updated testing through this study was sent to 372 people, and 116 (31%) consented to participate. For 142 of the 256 who did not proceed with testing through the study, proof of receipt of research information was available. In total, 22 pathogenic variants were reported in 21 of the 226 patients with updated testing from before and including our study: <jats:italic>ATM<\/jats:italic> (4), <jats:italic>CHEK2<\/jats:italic> (4), <jats:italic>LZTR1<\/jats:italic> (1), <jats:italic>MUTYH<\/jats:italic> (3), <jats:italic>NBN<\/jats:italic> (1), <jats:italic>NF1<\/jats:italic> (1), <jats:italic>NTHL1<\/jats:italic> (1), <jats:italic>PALB2<\/jats:italic> (4), <jats:italic>PMS2<\/jats:italic> (1), <jats:italic>RAD50<\/jats:italic> (1), and <jats:italic>SPINK1<\/jats:italic> (1). Many potential barriers of retesting were eliminated by removing personal costs or travel requirements. Still, only about 30% of patients agreed to participate, and a significant portion elected not to proceed. Future research could focus on the discovery of other factors that dissuade patients and what measures may better inform them on potential benefits.<\/jats:p>","DOI":"10.1002\/jgc4.1665","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T21:44:28Z","timestamp":1670449468000},"page":"598-606","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Patient uptake of updated genetic testing following uninformative <scp><i>BRCA1<\/i><\/scp> and <scp><i>BRCA2<\/i><\/scp> results"],"prefix":"10.1002","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5141-3321","authenticated-orcid":false,"given":"Sarah K.","family":"Macklin\u2010Mantia","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin E.","family":"Clift","sequence":"additional","affiliation":[{"name":"Clinical Studies Unit Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santo","family":"Maimone","sequence":"additional","affiliation":[{"name":"Department of Radiology Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David O.","family":"Hodge","sequence":"additional","affiliation":[{"name":"Department of Health Sciences Research Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Riegert\u2010Johnson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Jacksonville Florida USA"},{"name":"Department of Gastroenterology Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Hines","sequence":"additional","affiliation":[{"name":"Division of Diagnostic &amp; Consultative Medicine, Department of Medicine Mayo Clinic  Florida Jacksonville USA"},{"name":"Department of General Internal Medicine Mayo Clinic  Scottsdale Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010018\u20100241\u20109"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.33357"},{"key":"e_1_2_12_4_1","volume-title":"Genetic\/Familial high\u2010risk assessment: Breast, ovarian, and pancreatic","author":"Daly M. B.","year":"2022"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689\u2010021\u201000276\u20108"},{"key":"e_1_2_12_6_1","volume-title":"Genetic\/Familial high\u2010risk assessment: Colorectal","author":"Gupta S.","year":"2022"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010009\u20109254\u20108"},{"key":"e_1_2_12_8_1","unstructured":"Invitae. (2019).Genetic Testing for Hereditary Cancer. Retrieved 7\/28\/2022 fromhttps:\/\/www.invitae.com\/en\/pretest\u2010video\u2010cancer\/"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1513"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549\u2010016\u20104038\u2010y"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1126"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434\u2010018\u20106366\u20100"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1173"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1665","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jgc4.1665","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1665","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T11:20:05Z","timestamp":1692444005000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.1665"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,7]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/jgc4.1665"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.1665","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,7]]},"assertion":[{"value":"2022-06-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}