{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:26:33Z","timestamp":1777515993707,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T00:00:00Z","timestamp":1530489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T00:00:00Z","timestamp":1530489600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01HG008045"],"award-info":[{"award-number":["R01HG008045"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington's disease (HD) 20\u201330 years ago and have lived with the implications of that testing for decades. During the last section of a semi\u2010structured interview, participants were asked open\u2010ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct\u2010to\u2010consumer (DTC) genetic testing for HD is acceptable, and whether incidental\/secondary findings should be returned in the context of whole exome\/genome sequencing. Most\u2014but not all\u2014participants were in favor of an individual's right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well\u2010informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings.<\/jats:p>","DOI":"10.1007\/s10897-018-0274-0","type":"journal-article","created":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T19:09:48Z","timestamp":1530558588000},"page":"1428-1437","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease"],"prefix":"10.1002","volume":"27","author":[{"given":"K. M.","family":"Stuttgen","sequence":"first","affiliation":[{"name":"Berman Institute of Bioethics Johns Hopkins University 1809 Ashland Avenue, Room 211 Baltimore MD 21205 USA"},{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Bollinger","sequence":"additional","affiliation":[{"name":"Berman Institute of Bioethics Johns Hopkins University 1809 Ashland Avenue, Room 211 Baltimore MD 21205 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. L.","family":"Dvoskin","sequence":"additional","affiliation":[{"name":"Berman Institute of Bioethics Johns Hopkins University 1809 Ashland Avenue, Room 211 Baltimore MD 21205 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"McCague","sequence":"additional","affiliation":[{"name":"Berman Institute of Bioethics Johns Hopkins University 1809 Ashland Avenue, Room 211 Baltimore MD 21205 USA"},{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Shpritz","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Science Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Brandt","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Science Johns Hopkins University School of Medicine Baltimore MD USA"},{"name":"Department of Neurology Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra J. H.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Berman Institute of Bioethics Johns Hopkins University 1809 Ashland Avenue, Room 211 Baltimore MD 21205 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,2]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"crossref","unstructured":"Abdolahi A. Bull M. T. Darwin K. C. Venkataraman V. Grana M. J. Dorsey E. R. et al. (2014).A feasibility study of conducting the Montreal Cognitive Assessment remotely in individuals with movement disorders.Health Informatics Journal.https:\/\/doi.org\/10.1177\/1460458214556373.","DOI":"10.1177\/1460458214556373"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.190"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.36"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1989.03420210056016"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320540304"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.12.001"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.146"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-010-9329-6"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.147"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(03)00317-X"},{"issue":"5","key":"e_1_2_13_13_1","first-page":"689","article-title":"Improved predictive testing for Huntington disease by using three linked DNA markers","volume":"43","author":"Hayden M. R.","year":"1988","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_13_14_1","unstructured":"Hdsa.org(2017).Genetic testing & family planning\/prenatal testing.[online] Available at:http:\/\/hdsa.org\/living\u2010with\u2010hd\/genetic\u2010testing\u2010family\u2010planning\u2010prenatal\u2010testing\/. Accessed 29 Oct. 2017."},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.40"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.7.555"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.190"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-0025.1987.tb03531.x"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32423"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01900.x"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260206"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198803033180903"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1258\/jtt.2010.100116"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-015-9897-6"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-007-9133-0"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2014.24"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1037\/0278-6133.23.2.189"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12913-014-0544-y"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10897-018-0274-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10897-018-0274-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10897-018-0274-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-018-0274-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T19:30:17Z","timestamp":1694806217000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10897-018-0274-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,2]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1007\/s10897-018-0274-0"],"URL":"https:\/\/doi.org\/10.1007\/s10897-018-0274-0","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,2]]}}}