{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:11:12Z","timestamp":1793747472322,"version":"4.6.1"},"reference-count":39,"publisher":"American Medical Association (AMA)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Cardiol"],"published-print":{"date-parts":[[2021,8,1]]},"DOI":"10.1001\/jamacardio.2021.1301","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T18:20:10Z","timestamp":1622053210000},"page":"902","source":"Crossref","is-referenced-by-count":31,"title":["Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis"],"prefix":"10.1001","volume":"6","author":[{"given":"Amy C.","family":"Sturm","sequence":"first","affiliation":[{"name":"Genomic Medicine Institute, Geisinger, Danville, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Truty","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas E.","family":"Callis","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sienna","family":"Aguilar","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward D.","family":"Esplin","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Garcia","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eden V.","family":"Haverfield","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Morales","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert L.","family":"Nussbaum","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Rojahn","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Vatta","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Rader","sequence":"additional","affiliation":[{"name":"Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia"},{"name":"Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"17","key":"hoi210029r1","doi-asserted-by":"publisher","first-page":"1384","DOI":"10.1093\/eurheartj\/ehw028","article-title":"Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.","volume":"37","author":"Benn","year":"2016","journal-title":"Eur Heart J"},{"issue":"6319","key":"hoi210029r2","doi-asserted-by":"crossref","DOI":"10.1126\/science.aaf7000","article-title":"Genetic identification of familial hypercholesterolemia within a single U.S. health care system.","volume":"354","author":"Abul-Husn","year":"2016","journal-title":"Science"},{"issue":"4","key":"hoi210029r3","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1001\/jamacardio.2019.5954","article-title":"Association of monogenic vs polygenic hypercholesterolemia with risk of atherosclerotic cardiovascular disease.","volume":"5","author":"Trinder","year":"2020","journal-title":"JAMA Cardiol"},{"key":"hoi210029r4","article-title":"Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia.","author":"Lamiquiz-Moneo","journal-title":"Rev Esp Cardiol (Engl Ed)"},{"issue":"22","key":"hoi210029r5","doi-asserted-by":"publisher","first-page":"2578","DOI":"10.1016\/j.jacc.2016.03.520","article-title":"Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia.","volume":"67","author":"Khera","year":"2016","journal-title":"J Am Coll Cardiol"},{"issue":"20","key":"hoi210029r6","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.1093\/eurheartj\/ehx004","article-title":"Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.","volume":"38","author":"Tada","year":"2017","journal-title":"Eur Heart J"},{"issue":"45","key":"hoi210029r7","doi-asserted-by":"publisher","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","article-title":"Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.","volume":"34","author":"Nordestgaard","year":"2013","journal-title":"Eur Heart J"},{"key":"hoi210029r8","doi-asserted-by":"publisher","first-page":"a2423","DOI":"10.1136\/bmj.a2423","article-title":"Efficacy of statins in familial hypercholesterolaemia: a long term cohort study.","volume":"337","author":"Versmissen","year":"2008","journal-title":"BMJ"},{"issue":"16","key":"hoi210029r9","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1056\/NEJMoa1816454","article-title":"20-Year follow-up of statins in children with familial hypercholesterolemia.","volume":"381","author":"Luirink","year":"2019","journal-title":"N Engl J Med"},{"issue":"1","key":"hoi210029r10","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/1743-7075-8-23","article-title":"Familial hypercholesterolemia: the lipids or the genes?","volume":"8","author":"Fahed","year":"2011","journal-title":"Nutr Metab (Lond)"},{"issue":"6","key":"hoi210029r11","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1016\/j.jacc.2018.05.044","article-title":"Clinical genetic testing for familial hypercholesterolemia: JACC Scientific Expert Panel.","volume":"72","author":"Sturm","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"hoi210029r12","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/s12929-016-0256-1","article-title":"The genetics and screening of familial hypercholesterolaemia.","volume":"23","author":"Henderson","year":"2016","journal-title":"J Biomed Sci"},{"issue":"5","key":"hoi210029r15","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/j.jmoldx.2015.04.009","article-title":"A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients.","volume":"17","author":"Lincoln","year":"2015","journal-title":"J Mol Diagn"},{"issue":"10","key":"hoi210029r16","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.1038\/gim.2017.37","article-title":"Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.","volume":"19","author":"Nykamp","year":"2017","journal-title":"Genet Med"},{"issue":"1","key":"hoi210029r17","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1038\/s41436-018-0033-5","article-title":"Prevalence and properties of intragenic copy-number variation in mendelian disease genes.","volume":"21","author":"Truty","year":"2019","journal-title":"Genet Med"},{"issue":"5","key":"hoi210029r18","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"24","key":"hoi210029r19","doi-asserted-by":"publisher","first-page":"e454","DOI":"10.1161\/CIR.0000000000000936","article-title":"Call to action: structural racism as a fundamental driver of health disparities: a presidential advisory from the American Heart Association.","volume":"142","author":"Churchwell","year":"2020","journal-title":"Circulation"},{"issue":"9","key":"hoi210029r20","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1038\/s41436-020-0810-9","article-title":"Frequency of genomic secondary findings among 21,915 eMERGE network participants.","volume":"22","author":"eMERGE Clinical Annotation Working Group","year":"2020","journal-title":"Genet Med"},{"issue":"11","key":"hoi210029r21","doi-asserted-by":"publisher","first-page":"2202","DOI":"10.1194\/jlr.D079301","article-title":"Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.","volume":"58","author":"Iacocca","year":"2017","journal-title":"J Lipid Res"},{"issue":"3","key":"hoi210029r23","doi-asserted-by":"publisher","first-page":"291","DOI":"10.2217\/clp.14.19","article-title":"Underutilization of cascade screening for familial hypercholesterolemia.","volume":"9","author":"Neal","year":"2014","journal-title":"Clin Lipidol."},{"issue":"14","key":"hoi210029r24","doi-asserted-by":"publisher","first-page":"1732","DOI":"10.1016\/j.jacc.2017.08.009","article-title":"Genetically confirmed familial hypercholesterolemia in patients with acute coronary syndrome.","volume":"70","author":"Amor-Salamanca","year":"2017","journal-title":"J Am Coll Cardiol"},{"issue":"5","key":"hoi210029r25","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1016\/j.jacl.2016.07.011","article-title":"US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry.","volume":"10","author":"Ahmad","year":"2016","journal-title":"J Clin Lipidol"},{"issue":"2","key":"hoi210029r26","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1001\/jamacardio.2019.5173","article-title":"Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action.","volume":"5","author":"Representatives of the Global Familial Hypercholesterolemia Community","year":"2020","journal-title":"JAMA Cardiol"},{"issue":"4","key":"hoi210029r27","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/j.jacl.2020.04.011","article-title":"Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.","volume":"14","author":"Brown","year":"2020","journal-title":"J Clin Lipidol"},{"issue":"4","key":"hoi210029r28","doi-asserted-by":"crossref","DOI":"10.1161\/HCG.0000000000000067","article-title":"Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association.","volume":"13","author":"Musunuru","year":"2020","journal-title":"Circ Genom Precis Med"},{"issue":"6","key":"hoi210029r30","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1111\/j.1399-0004.2009.01356.x","article-title":"Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.","volume":"77","author":"Taylor","year":"2010","journal-title":"Clin Genet"},{"issue":"1","key":"hoi210029r31","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/j.atherosclerosis.2015.03.003","article-title":"Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales.","volume":"240","author":"Haralambos","year":"2015","journal-title":"Atherosclerosis"},{"key":"hoi210029r32","first-page":"774","article-title":"Public attitudes toward direct to consumer genetic testing.","volume":"2019","author":"Ruhl","year":"2020","journal-title":"AMIA Annu Symp Proc"},{"issue":"1","key":"hoi210029r33","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1080\/23294515.2019.1701583","article-title":"From expectations to experiences: consumer autonomy and choice in personal genomic testing.","volume":"11","author":"Savard","year":"2020","journal-title":"AJOB Empir Bioeth"},{"issue":"1","key":"hoi210029r34","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1002\/jgc4.v30.1","article-title":"Adult adoptees and their use of direct-to-consumer genetic testing: Searching for family, searching for health.","volume":"30","author":"Lee","year":"2021","journal-title":"J Genet Couns"},{"issue":"12","key":"hoi210029r36","doi-asserted-by":"publisher","first-page":"1515","DOI":"10.1038\/gim.2018.38","article-title":"False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.","volume":"20","author":"Tandy-Connor","year":"2018","journal-title":"Genet Med"},{"issue":"7","key":"hoi210029r37","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2019.7457","article-title":"Association of racial bias with burnout among resident physicians.","volume":"2","author":"Dyrbye","year":"2019","journal-title":"JAMA Netw Open"},{"issue":"3","key":"hoi210029r38","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1353\/hpu.0.0185","article-title":"Physicians\u2019 implicit and explicit attitudes about race by MD race, ethnicity, and gender.","volume":"20","author":"Sabin","year":"2009","journal-title":"J Health Care Poor Underserved"},{"key":"hoi210029r13","unstructured":"23andMe. 23andMe personal genome service (PGS) package insert. Published June 2020. Accessed July 24, 2020. https:\/\/permalinks.23andme.com\/pdf\/package_insert_v5.pdf"},{"key":"hoi210029r14","unstructured":"23andMe Blog. 23andMe offers a new report on familial hypercholesterolemia. Published February 20, 2019. Accessed July 24, 2020. https:\/\/blog.23andme.com\/health-traits\/23andme-offers-a-new-report-on-familial-hypercholesterolemia\/"},{"key":"hoi210029r22","unstructured":"Regalado? A. More than 26 million people have taken an at-home ancestry test. MIT Technology Review. Published February 11, 2019. Accessed March 5, 2021. https:\/\/www.technologyreview.com\/2019\/02\/11\/103446\/more-than-26-million-people-have-taken-an-at-home-ancestry-test"},{"key":"hoi210029r29","unstructured":"Centers for Disease Control and Prevention. More detailed information on key tier 1 applications: familial hypercholesterolemia. Published January 28, 2019. Accessed July 24, 2020. https:\/\/www.cdc.gov\/genomics\/implementation\/toolkit\/fh_1.htm"},{"key":"hoi210029r35","unstructured":"US Food and Drug Administration. Direct-to-consumer tests. Updated December 20, 2019. Accessed July 24, 2020. https:\/\/www.fda.gov\/medical-devices\/vitro-diagnostics\/direct-consumer-tests"},{"key":"hoi210029r39","doi-asserted-by":"crossref","unstructured":"Caraballo? C, Massey? D, Mahajan? S, ? Racial and ethnic disparities in access to health care among adults in the United States: a 20-year national health interview survey analysis, 1999-2018.? medRxiv. Preprint published online November 4, 2020. doi:10.1101\/2020.10.30.20223420","DOI":"10.1101\/2020.10.30.20223420"}],"container-title":["JAMA Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamacardiology\/articlepdf\/2780360\/jamacardiology_sturm_2021_oi_210029_1628256752.54148.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T20:07:12Z","timestamp":1628539632000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamacardiology\/fullarticle\/2780360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,1]]},"references-count":39,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamacardio.2021.1301","relation":{},"ISSN":["2380-6583"],"issn-type":[{"value":"2380-6583","type":"print"}],"subject":[],"published":{"date-parts":[[2021,8,1]]}}}