{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T03:27:12Z","timestamp":1785554832134,"version":"3.56.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,5,15]],"date-time":"2019-05-15T00:00:00Z","timestamp":1557878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","award":["R01\u2010HG002449\u201006"],"award-info":[{"award-number":["R01\u2010HG002449\u201006"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:p>Rates of genetic testing in Huntington disease (HD) are lower than was predicted before direct DNA testing became available. Clinicians often do not have in\u2010depth conversations with people at risk who chose not to test. We queried 733 research subjects who chose not to learn their HD gene status when enrolling in the Prospective Huntington At\u2010Risk Observational Study, carried out between 1999 and 2008. Lack of an effective cure or treatment (66% of subjects) and inability to undo knowledge (66%) were the major reasons cited for choosing not to undergo HD DNA testing. Most subjects were not concerned about the length or burden of the testing process (61% and 59%, respectively). Subjects were optimistic that a treatment to improve symptoms or postpone onset would be developed within the next 10\u2009years (56% and 53%, respectively), but they had less certainty about the prospects to prevent HD onset (36%). This is the first large, systematic study of why people at risk for HD choose not to undergo genetic testing. Attitudes about how people at risk for HD approach this life\u2010altering choice should be reassessed as new treatments develop, and as clinical trials now require genetic testing at entry.<\/jats:p>","DOI":"10.1111\/cge.13529","type":"journal-article","created":{"date-parts":[[2019,5,16]],"date-time":"2019-05-16T01:01:31Z","timestamp":1557968491000},"page":"28-34","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2084-6869","authenticated-orcid":false,"given":"Karen E.","family":"Anderson","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Georgetown University  Washington DC"},{"name":"Department of Neurology, Georgetown University  Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley","family":"Eberly","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Computational Biology, University of Rochester  Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen S.","family":"Marder","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia Vagelos College of Physicians and Surgeons, Columbia University  New York NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Oakes","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Computational Biology, University of Rochester  Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Kayson","sequence":"additional","affiliation":[{"name":"Center for Health + Technology\/Clinical Trials Coordination Center, University of Rochester, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Young","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ira","family":"Shoulson","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester  Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the PHAROS Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260204"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260207"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260205"},{"key":"e_1_2_8_5_1","first-page":"A246","article-title":"Intended use of predictive testing by those at risk for Huntington disease","volume":"57","author":"Meissen GJ","year":"1987","journal-title":"Am J Med Genet Suppl"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.161.4.481"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.142"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01538.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.2217\/nmt-2016-0008"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.139"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70262-5"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2016.8655"},{"key":"e_1_2_8_13_1","unstructured":"Ionis\/Roche wwwclinical.https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02519036?cond=Huntington+Disease&rank=7. 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