{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T14:42:32Z","timestamp":1786632152909,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,9]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aims<\/jats:title>\n Amyotrophic lateral sclerosis (ALS) is often categorized as sporadic (sALS) or familial (fALS) based on the family history. Several recent genetic studies have found disease\u2010causing variants in 50%\u201385% of patients with fALS and 10%\u201315% of those with sALS. The aim of our study is to review our clinical experience with sponsored genetic testing (i.e., pharmaceutical company\u2010sponsored and cost\u2010free to patient) since its inception.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We reviewed the medical records on all ALS patients seen at our Center who consented to sponsored genetic testing from August 2021 through October 2025.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Of the 170 medical records reviewed, 22 patients (12.9%) tested positive for a disease\u2010causing variant in a known autosomal dominant disorder. Thirteen of 35 patients with fALS (37.1%) were found to have a disease\u2010causing variant, in contrast to 9 of 135 patients (6.7%) with sALS. Of the 22 disease\u2010causing variants found, the following genes were involved in decreasing frequency:\n C9orf72<\/jats:italic>\n 11 (50%),\n SOD1<\/jats:italic>\n 6 (27.3%),\n FUS<\/jats:italic>\n 2 (9.1%), and one each (4.5%) of\n SQSTM1<\/jats:italic>\n ,\n TARDBP<\/jats:italic>\n , and\n TBK1.<\/jats:italic>\n Twenty\u2010eight patients (16.5%) harbored 29 variants of uncertain significance (VUS).\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n Results of testing led to medically actionable activities including genetic counseling for patients and at\u2010risk family members with positive results, and treatment (i.e., intrathecal tofersen) for the two patients harboring pathogenic\n SOD1<\/jats:italic>\n variants. The lower diagnostic yields than previously published for fALS and sALS patients likely are related to lower numbers of genes tested in the sponsored genetic panels, and these are expected to improve as more genes are added.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70313","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T06:26:31Z","timestamp":1782109591000},"page":"698-701","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Impact of Sponsored Genetic Testing in 170 Consecutive Consenting Patients With Amyotrophic Lateral Sclerosis: A Single\u2010Site Retrospective Review"],"prefix":"10.1002","volume":"74","author":[{"given":"Kevin J.","family":"Felice","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care New Britain Connecticut USA"},{"name":"Department of Neurology University of Connecticut School of Medicine Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dottie B.","family":"Leighton","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care New Britain Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie S.","family":"Daniel","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care New Britain Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie I.","family":"Cartwright","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care New Britain Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas Meira","family":"Benchaya","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care New Britain Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1603471"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000001294"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024\u2010025\u201000890\u20105"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2021.120099"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2204705"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2025.4946"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51895"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2020.04.005"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(25)00026-2"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000214180"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102022\u2010328931"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcad152"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102020\u2010325014"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad120"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482961003727954"}],"container-title":["Muscle 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Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70313","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.70313","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T13:52:12Z","timestamp":1786629132000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.70313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,21]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/mus.70313"],"URL":"https:\/\/doi.org\/10.1002\/mus.70313","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,21]]},"assertion":[{"value":"2025-11-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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