{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:53:34Z","timestamp":1787828014983,"version":"build-2784847793"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,11,24]],"date-time":"2016-11-24T00:00:00Z","timestamp":1479945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["# 2 RO1 HG002449\u201006"],"award-info":[{"award-number":["# 2 RO1 HG002449\u201006"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>Huntington disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine\u2013adenine\u2013guanine ( <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content>) triplet repeat expansion in the <jats:italic>Huntingtin<\/jats:italic> gene which was discovered in 1993. The <jats:styled-content style=\"fixed-case\">PHAROS<\/jats:styled-content> study is a unique observational study of 1001 individuals at risk for <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> who had not been previously tested for <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol.<\/jats:p><jats:p>Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat length. In the <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> expanded group, those choosing to be tested were older and had more chorea and higher scores on the behavioral section of the unified Huntington's disease rating scale at baseline than those not choosing to be tested. Following genetic testing, 56% of subjects with <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> &lt; 37 had less depression when compared to prior to testing, but depression generally stayed the same or increased for 64% of subjects in the expanded group. This finding suggests that approaches to testing must continue to be cautious, with appropriate medical, psychological and social support.<\/jats:p>","DOI":"10.1111\/cge.12893","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T12:51:20Z","timestamp":1476449480000},"page":"824-831","source":"Crossref","is-referenced-by-count":21,"title":["Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at\u2010risk observational study (<scp>PHAROS<\/scp>)"],"prefix":"10.1111","volume":"91","author":[{"given":"K.A.","family":"Quaid","sequence":"first","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.W.","family":"Eberly","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Computational Biology University of Rochester Medical Center  Rochester NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Kayson\u2010Rubin","sequence":"additional","affiliation":[{"name":"Department of Neurology and CHET University of Rochester Medical Center  Rochester NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Oakes","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Computational Biology University of Rochester Medical Center  Rochester NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Shoulson","sequence":"additional","affiliation":[{"name":"Department of Neurology and Program for Regulatory Science &amp; Medicine (PRSM) Georgetown University  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Huntington Study Group PHAROS Investigators and Coordinators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,24]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Huntington's Disease a Disorder of Families","author":"Folstein SE","year":"1989"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23685"},{"key":"e_1_2_6_4_1","volume-title":"Huntington Disease. 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