{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:18Z","timestamp":1747149558983,"version":"3.40.5"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["RM1HG007257, NCATS UL1TR00187, Columbia University HDSA Center of Excellence"],"award-info":[{"award-number":["RM1HG007257, NCATS UL1TR00187, Columbia University HDSA Center of Excellence"]}],"id":[{"id":"10.13039\/100000051","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":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The availability and cost of next\u2010generation sequencing (NSG) now allow testing large numbers of genes simultaneously. However, the gold standard for predictive testing has been to test only for a known family mutation or confirmed family disease. The goal of this study was to investigate the psychological impact of predictive testing for autosomal dominant neurodegenerative diseases without a known family mutation using next\u2010generation sequencing panels compared to single\u2010gene testing of a known family mutation. Fourteen individuals from families with a known mutation and 10 individuals with unknown family mutations participated. Participants completed questionnaires on demographics, genetic knowledge, and psychological measures of anxiety, depression, perceived personal control, rumination, and intolerance to uncertainty at baseline and 1 and 6\u00a0months after receiving results. Decision regret was measured 1 and 6\u00a0months after receiving results. Participants completed a modified Huntington disease genetic testing protocol with genetic counseling and neurological and psychological evaluation. Genetic testing of either the known family mutation or an NGS panel of neurodegenerative disease genes was performed. Semi\u2010structured interviews were performed at 6\u00a0months post\u2010results about their experience. Two\u2010sample <jats:italic>t<\/jats:italic> tests were performed on data collected at each time point to identify significant between\u2010group differences in demographic variables, baseline psychological scores, and baseline genetic knowledge scores. Within\u2010group change over time was assessed by a mixed\u2010effects model. Results of this study indicate that NGS panels for predictive testing for neurodegenerative disease are safe and beneficial to participants when performed within a modified HD protocol. Though significant differences in psychological outcomes were found, these differences may have been driven by genetic results and baseline psychological differences between individuals within the groups. Participants did not regret their decision to test and were largely pleased with the testing protocol.<\/jats:p>","DOI":"10.1002\/jgc4.1342","type":"journal-article","created":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T06:17:17Z","timestamp":1602224237000},"page":"553-562","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Predictive testing for neurodegenerative diseases in the age of next\u2010generation sequencing"],"prefix":"10.1002","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4429-0279","authenticated-orcid":false,"given":"Jill","family":"Goldman","sequence":"first","affiliation":[{"name":"Dept. of Neurology Columbia University Vagelos College of Physicians and Surgeons New York NY USA"},{"name":"Columbia University Irving Medical Center New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanghong","family":"Xie","sequence":"additional","affiliation":[{"name":"Dept. of Biostatistics Columbia University Mailman School of Public Health New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dina","family":"Green","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Memorial Sloane Kettering Cancer Center New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Naini","sequence":"additional","affiliation":[{"name":"Dept. of Pathology and Cell Biology Columbia University Vagelos College of Physicians and Surgeons New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahesh M.","family":"Mansukhani","sequence":"additional","affiliation":[{"name":"Dept. of Pathology and Cell Biology Columbia University Vagelos College of Physicians and Surgeons New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Marder","sequence":"additional","affiliation":[{"name":"Dept. of Neurology Columbia University Vagelos College of Physicians and Surgeons New York NY USA"},{"name":"Columbia University Irving Medical Center New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302374"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399\u20100004.2003.00157.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.146"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<53::AID-AJMG11>3.0.CO;2-#"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.57"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0272989X03256005"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0005\u20107967(01)00092\u20104"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2008.04.007"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010017\u20100195\u20103"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2017.1332079"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010014\u20109755\u2010y"},{"issue":"12","key":"e_1_2_9_13_1","first-page":"897","article-title":"Psychological functioning before predictive testing for Huntington's disease: The role of the parental disease, risk perception, and subjective proximity of the disease","volume":"36","author":"Decruyenaere M.","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200913"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318204d004"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.146"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0809578"},{"key":"e_1_2_9_19_1","first-page":"226","article-title":"Psychosocial effects of predictive testing for Huntington's disease","volume":"96","author":"Hayden M. 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