Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives

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.

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Publication Details

Journal
Circulation Genomic and Precision Medicine
Published
2026-02-10
DOI
https://doi.org/10.1161/circgen.125.005527
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.00
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article

Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives

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Circulation Genomic and Precision Medicine
Congenital heart defects research
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Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives

Rachel Gosselin, Karen Texter, Kathryn Vannatta, May Ling Mah, Angela Onorato, Isaac Kistler, Rachel Levenseller, Vidu Garg, Kara Klinkebiel, Bimal P. Chaudhari
article en

Abstract

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.

Circulation Genomic and Precision Medicine
Nationwide Children's Hospital (US), The Ohio State University Wexner Medical Center (US), The Ohio State University (US)
Quality Education
Openalex Percentile: Top 62%
Congenital heart defects research
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