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<p>Genetic testing plays an expanding role in pediatric cardiology, particularly in congenital heart disease (CHD). Despite advancements in genomic medicine, no universal guidelines exist for genetic evaluation in CHD, resulting in varied practices, especially within Cardiac Intensive Care Units (CICUs). This study examines genetic evaluation practices for neonates with CHD cared for in pediatric CICUs across the United States.&#xa0;A two-tier survey of CICU medical directors and genetic specialists was distributed via RedCap to 118 centers contributing to the Society of Thoracic Surgeons Congenital Heart Surgery Database. Surveys assessed CICU demographics, genetic evaluation practices, and institutional protocols. Descriptive statistics were analyzed using R.&#xa0;Fifty unique institutions (42%) completed the first-tier survey; 46/50 completed the second-tier. Most (78%) respondents reported dedicated CICUs, but only 32% had formal genetic testing protocols. Tier 1 showed genetic testing was reported in 58% of neonatal CHD cases, the remainder evaluated on a case-by-case basis. Substantial variability existed in both cardiac substrates prompting genetic evaluation and first-line test selection. Only 28% reported consultation with genetic providers for neonatal CHD cases. Tier 2 showed genetic consultation increased to 54% for patients with syndromic CHD, and genetic testing was obtained in 46% of isolated and 61% of syndromic CHD. Access remained limited as only&#xa0;42% had cardiac-specific genetic providers. Fewer than 12% of institutions used exome or genome as first-line testing.&#xa0;Genetic evaluation in CICUs is highly variable, with underutilization of genetic providers and limited access to advanced testing. Standardized guidelines and consensus statements are needed to improve access, streamline care, optimize outcomes, and enable genome-informed management in CHD.</p>

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Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey

  • 期刊论文

  • 发表日期：

    2025年11月20日

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  • Amee M. Bigelow,
  • Catherine D. Krawczeski,
  • Isaac Kistler,
  • Katherine Spayde,
  • Ava Willoughby,
  • Peter White,
  • Bimal P. Chaudhari,
  • Gabrielle C. Geddes,
  • Sheria D. Wilson,
  • Vidu Garg

摘要

Genetic testing plays an expanding role in pediatric cardiology, particularly in congenital heart disease (CHD). Despite advancements in genomic medicine, no universal guidelines exist for genetic evaluation in CHD, resulting in varied practices, especially within Cardiac Intensive Care Units (CICUs). This study examines genetic evaluation practices for neonates with CHD cared for in pediatric CICUs across the United States. A two-tier survey of CICU medical directors and genetic specialists was distributed via RedCap to 118 centers contributing to the Society of Thoracic Surgeons Congenital Heart Surgery Database. Surveys assessed CICU demographics, genetic evaluation practices, and institutional protocols. Descriptive statistics were analyzed using R. Fifty unique institutions (42%) completed the first-tier survey; 46/50 completed the second-tier. Most (78%) respondents reported dedicated CICUs, but only 32% had formal genetic testing protocols. Tier 1 showed genetic testing was reported in 58% of neonatal CHD cases, the remainder evaluated on a case-by-case basis. Substantial variability existed in both cardiac substrates prompting genetic evaluation and first-line test selection. Only 28% reported consultation with genetic providers for neonatal CHD cases. Tier 2 showed genetic consultation increased to 54% for patients with syndromic CHD, and genetic testing was obtained in 46% of isolated and 61% of syndromic CHD. Access remained limited as only 42% had cardiac-specific genetic providers. Fewer than 12% of institutions used exome or genome as first-line testing. Genetic evaluation in CICUs is highly variable, with underutilization of genetic providers and limited access to advanced testing. Standardized guidelines and consensus statements are needed to improve access, streamline care, optimize outcomes, and enable genome-informed management in CHD.