{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T07:09:03Z","timestamp":1761808143595},"reference-count":16,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":1827,"URL":"https:\/\/www.cambridge.org\/core\/terms"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J. Law. Med. Ethics"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Genetic testing can be used to determine if unexplained fractures in children could have resulted from a predisposition to bone fractures, e.g., osteogenesis imperfecta. However, uncertainty is introduced if a variant of unknown significance (VUS) is identified. Proper interpretation of VUS in these situations is critical because of its influence on clinical care and in court rulings. This study sought to understand how VUS are interpreted and used by practitioners when there is a differential diagnosis including both osteogenesis imperfecta and non-accidental injury.<\/jats:p><jats:p>A 15-question survey was emailed to physicians who requested analysis of two genes, COL1A1 and COL1A2, from the University of Washington from 2005-2013 for patient cases involving suspicion of child abuse.<\/jats:p><jats:p>Among the 89 participants, responses differed about when genetic testing should be ordered for osteogenesis imperfecta, who should be consulted about utilization of VUS test results, follow-up procedures, and who should receive the VUS results.<\/jats:p><jats:p>There are no clear guidelines for how to interpret and follow up on VUS. In the legal setting, misinterpreted VUS could lead to unintended consequences and deleterious ramifications for family members. The need for better practice guidelines to help promote more equitable handling of these sensitive legal cases is clear.<\/jats:p>","DOI":"10.1177\/1073110516667947","type":"journal-article","created":{"date-parts":[[2017,12,12]],"date-time":"2017-12-12T10:22:15Z","timestamp":1513074135000},"page":"514-519","update-policy":"http:\/\/dx.doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications"],"prefix":"10.1017","volume":"44","author":[{"given":"Emily","family":"Youngblom","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitzi Leah","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2021,1,1]]},"reference":[{"key":"S1073110500020635_bib6","unstructured":"6. See Marlowe, supra note 3."},{"key":"S1073110500020635_bib8","unstructured":"8. University of Leicester, \u201cOsteogenesis Imperfecta & Ehlers-Danlos Syndrome Variant Databases,\u201d available at <http:\/\/www.le.ac.uk\/ge\/collagen\/> (last visisted July 18, 2016); R. Dalgleish, \u201cThe Human Type I Collagen Mutation Database,\u201d Nucleic Acids Research 25 (1997): 181-187; R. Dalgleish, \u201cThe Human Collagen Mutation Database,\u201d Nucleic Acids Research 26 (1998): 253\u2013255."},{"key":"S1073110500020635_bib3","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jmg.39.6.382","article-title":"\u201cTesting for Osteo-genesis Imperfecta in Cases of Suspected Non-accidental Injury,\u201d","volume":"39","author":"Marlowe","year":"2002","journal-title":"Journal of Medical Genetics"},{"key":"S1073110500020635_bib5","unstructured":"5. See Leventhal, supra note 4."},{"key":"S1073110500020635_bib13","unstructured":"13. See Marlowe et al., supra note 3."},{"key":"S1073110500020635_bib11","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/humu.22802","article-title":"\u201cPerformant Mutation Identification using Targeted Next Generation Sequencing of Fourteen Thoracic Aortic Aneurysm Genes,\u201d","volume":"36","author":"Proost","year":"2015","journal-title":"Human Mutations"},{"key":"S1073110500020635_bib14","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1177\/1049732305276687","article-title":"\u201cThree Approaches to Qualitative Content Analysis,\u201d","volume":"15","author":"Hsieh","year":"2005","journal-title":"Qualitative Health Research"},{"key":"S1073110500020635_bib12","unstructured":"12. Matter of Maria S. (Samantha S.) Decided April 29, 2014. NY Slip Op 50690(U), New York State Law Reporting Bureau pursuant to Judiciary Law \u00a7 431 Justia Law, available at <http:\/\/law.justia.com\/cases\/new-york\/other-courts\/2014\/2014-ny-slip-op-50690-u.html> (last visited July 18, 2016)."},{"key":"S1073110500020635_bib4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1959"},{"key":"S1073110500020635_bib9","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.jped.2014.05.003","article-title":"\u201cWhat Is New in Genetics and Osteogenesis Imperfecta Classification?\u201d","volume":"90","author":"Valadares","year":"2014","journal-title":"Journal of Pediatrics (Rio J)"},{"key":"S1073110500020635_bib16","doi-asserted-by":"crossref","first-page":"73","DOI":"10.7326\/0003-4819-156-1-201201031-00001","article-title":"\u201cAmerican College of Physicians Ethics Manual, 6th Edition,\u201d","volume":"156","author":"Snyder","year":"2012","journal-title":"Annals of Internal Medicine"},{"key":"S1073110500020635_bib7","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1002\/ajmg.c.30073","article-title":"\u201cA Genetic Approach to Fracture Epidemiology in Childhood,\u201d","volume":"139c","author":"Tinkle","year":"2005","journal-title":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics"},{"key":"S1073110500020635_bib2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"\u201cGenetic Heterogeneity in Osteogenesis Imperfecta,\u201d","volume":"16","author":"Sillence","year":"1979","journal-title":"Journal of Medical Genetics"},{"key":"S1073110500020635_bib15","unstructured":"15. American Society of Human Genetics (ASHG) Member Directory Search, available at <http:\/\/www.ashg.org\/pages\/member_search.shtml> (last visted July 18, 2016)."},{"key":"S1073110500020635_bib10","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ejhg.2011.141","article-title":"\u201cEMQN Best Practice Guidelines for the Laboratory Diagnosis of Osteogenesis Imperfecta,\u201d","volume":"20","author":"van Dijk","year":"2012","journal-title":"European Journal of Human Genetics"},{"key":"S1073110500020635_bib1","first-page":"377","article-title":"\u201cGenetic and Congenital Defect Conditions That Mimic Child Abuse,\u201d","volume":"41","author":"Wardinsky","year":"1995","journal-title":"Journal of Family Practice"}],"container-title":["Journal of Law, Medicine &amp; Ethics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1073110516667947","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1073110516667947","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1073110500020635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T17:13:21Z","timestamp":1610644401000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1073110500020635\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016]]}},"alternative-id":["S1073110500020635"],"URL":"https:\/\/doi.org\/10.1177\/1073110516667947","relation":{},"ISSN":["1073-1105","1748-720X"],"issn-type":[{"value":"1073-1105","type":"print"},{"value":"1748-720X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}