{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T18:45:09Z","timestamp":1776797109005,"version":"3.51.2"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND:<\/jats:title>\n                    <jats:p>Genetic variation affects clinical outcomes, prognosis, and family planning decisions in individuals with congenital heart disease (CHD). While genetic testing recommendations for infants and children with CHD have expanded, similar broad guidelines are lacking for patients with adult CHD (ACHD). Here, we investigated the current state of genetic testing in patients with ACHD and their perceptions toward testing, which has not been previously reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>A single-center prospective cohort survey of patients with ACHD aged \u226518 years was evaluated in a large ACHD clinic over a 12-month period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>Among 336 survey respondents (median age, 29 years; 52% male), CHD lesions were wide ranging, albeit largely represented by conotruncal (35%) or left ventricular outflow tract (35%) lesions. Most patients did not have children (64%) or a family history of CHD (79%). Thirteen percent had evidence of prior genetic testing despite 41% to 98% meeting criteria by current pediatric recommendations. Most desired genetic testing (68%) though interest varied by sex, education level, and family status. Individual and family health factors were reported as the most influential considerations for genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>Few patients with ACHD have had genetic testing despite most being eligible based on current pediatric guidelines, likely related to birth era. Patients were interested in genetic testing though demographic factors and family status affected interest. The lack of broad recommendations for genetic testing in the ACHD population likely represents a significant barrier to increased utilization of genetic tests.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.125.005527","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T10:00:33Z","timestamp":1770717633000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives"],"prefix":"10.1161","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1057-2228","authenticated-orcid":true,"given":"Angela","family":"Onorato","sequence":"first","affiliation":[{"name":"The Heart Center (A.O., I.K., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9540-8647","authenticated-orcid":true,"given":"Kara","family":"Klinkebiel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3381-7009","authenticated-orcid":true,"given":"Rachel","family":"Levenseller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0115-949X","authenticated-orcid":true,"given":"Bimal P.","family":"Chaudhari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute (B.P.C.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Clinical and Translational Sciences Institute, Nationwide Children\u2019s Hospital and and The Ohio State University College of Medicine, Columbus, OH (B.P.C.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4025-1327","authenticated-orcid":true,"given":"Isaac","family":"Kistler","sequence":"additional","affiliation":[{"name":"The Heart Center (A.O., I.K., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Biostatistics Resource, The Abigail Wexner Research Institute (I.K.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9218-2352","authenticated-orcid":true,"given":"Kathryn","family":"Vannatta","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health (K.V.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Division of Genetic and Genomic Medicine (K.V.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Center for Biostatistics, The Ohio State University Wexner Medical Center, Columbus (I.K.). Department of Psychology, The Ohio State University, Columbus (K.V.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4811-7916","authenticated-orcid":true,"given":"Rachel","family":"Gosselin","sequence":"additional","affiliation":[{"name":"Center for Cardiovascular Research, The Abigail Wexner Research Institute (R.G.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7875-9266","authenticated-orcid":true,"given":"Karen","family":"Texter","sequence":"additional","affiliation":[{"name":"The Heart Center (A.O., I.K., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3778-5927","authenticated-orcid":true,"given":"Vidu","family":"Garg","sequence":"additional","affiliation":[{"name":"The Heart Center (A.O., I.K., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8696-637X","authenticated-orcid":true,"given":"May Ling","family":"Mah","sequence":"additional","affiliation":[{"name":"The Heart Center (A.O., I.K., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"},{"name":"Department of Pediatrics (A.O., K.K., R.L., B.P.C., K.T., V.G., M.L.M.), The Ohio State University College of Medicine, Columbus, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000606"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.21037\/tp-21-297"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1177\/2047487319854552"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2015.02.009"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.119.002836"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951115001389"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.117.006906"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/HCG.0000000000000031"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/HCG.0000000000000086"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2022.03.1225"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000602"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1412806"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccl.2015.07.001"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.113.008396"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pec.2006.07.005"},{"key":"e_1_3_3_18_2","volume-title":"Health Information National Trends Survey 6 methodology report. 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