{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:40:03Z","timestamp":1791067203989,"version":"4.1.0"},"reference-count":59,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T00:00:00Z","timestamp":1697500800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Cardiovascular disease continues to be the leading cause of death globally. Clinical practice guidelines aimed at improving disease management and positively impacting major cardiac adverse events recommend genetic testing for inherited cardiovascular conditions such as dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), hereditary amyloidosis, and familial hypercholesterolemia (FH); however, little is known about how consistently practitioners order genetic testing for these conditions in routine clinical practice. This study aimed to assess the adoption of guideline-directed genetic testing for patients diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This retrospective cohort study captured real-world evidence of genetic testing from ICD-9-CM and ICD-10-CM codes, procedure codes, and structured text fields of de-identified patient records in the Veradigm Health Insights Ambulatory EHR Research Database linked with insurance claims data. Data analysis was conducted using an automated electronic health record analysis engine. Patient records in the Veradigm database were sourced from more than 250,000 clinicians serving over 170 million patients in outpatient primary care and specialty practice settings in the United States and linked insurance claims data from public and private insurance providers. The primary outcome measure was evidence of genetic testing within six months of condition diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Between January 1, 2017, and December 31, 2021, 224,641 patients were newly diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH and included in this study. Substantial genetic testing care gaps were identified. Only a small percentage of patients newly diagnosed with DCM (827\/101,919; 0.8%), HCM (253\/15,507; 1.6%), LQTS (650\/56,539; 1.2%), hereditary amyloidosis (62\/1,026; 6.0%), or FH (718\/49,650; 1.5%) received genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Genetic testing is underutilized across multiple inherited cardiovascular conditions. This real-world data analysis provides insights into the delivery of genomic healthcare in the United States and suggests genetic testing guidelines are rarely followed in practice.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2023.1272433","type":"journal-article","created":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T07:11:00Z","timestamp":1697526660000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":31,"title":["Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases"],"prefix":"10.3389","volume":"10","author":[{"given":"Mauro","family":"Longoni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanchan","family":"Bhasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donghyun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"McKenna","family":"Nisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sucheta","family":"Bhatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Dash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,10,17]]},"reference":[{"key":"B1","year":""},{"key":"B2","doi-asserted-by":"publisher","first-page":"2361","DOI":"10.1016\/j.jacc.2022.11.005","article-title":"The global burden of cardiovascular diseases and risk: a compass for future health","volume":"80","author":"Vaduganathan","year":"2022","journal-title":"J Am Coll Cardiol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1016\/j.jacc.2020.06.037","article-title":"Identification of undetected monogenic cardiovascular disorders","volume":"76","author":"Abdulrahim","year":"2020","journal-title":"J Am Coll Cardiol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"e003704","DOI":"10.1161\/CIRCGEN.122.003704","article-title":"Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population","volume":"15","author":"Bourfiss","year":"2022","journal-title":"Circ Genom Precis Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"e005407","DOI":"10.1161\/CIRCHEARTFAILURE.118.005407","article-title":"Epidemiology of cardiac amyloidosis-associated heart failure hospitalizations among fee-for-service medicare beneficiaries in the United States","volume":"12","author":"Gilstrap","year":"2019","journal-title":"Circ Heart Fail"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1161\/CIRCULATIONAHA.119.044795","article-title":"Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis","volume":"141","author":"Hu","year":"2020","journal-title":"Circulation"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e003675","DOI":"10.1161\/CIRCGEN.121.003675","article-title":"Prevalence and phenotypic burden of monogenic arrhythmias using integration of electronic health records with genetics","volume":"15","author":"Nafissi","year":"2022","journal-title":"Circ Genom Precis Med"},{"key":"B8","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/978-3-030-27371-2_2","article-title":"The genetic landscape of cardiomyopathies","volume-title":"Genetic causes of cardiac disease. 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