Cardiologists’ perspectives on sociocultural and structural factors shaping cardiovascular genetic testing

INTRODUCTION: Genetic testing is increasingly central to the diagnosis and management of cardiovascular genetic conditions. However, use and follow-through vary across patient populations. Examining clinician perspectives on sociocultural and structural factors influencing testing is important for understanding these differences and informing public health genomics research and implementation efforts. METHODS: We conducted semi-structured interviews with 15 cardiologists from health systems across the United States who have integrated cardiogenetics in their practice. Interviews explored experiences diagnosing cardiovascular genetic conditions among patients from underrepresented backgrounds, as well as approaches to incorporating social and contextual information into care. Data were coded thematically and analyzed using a framework analysis guided by the Health Equity Implementation Framework and Social Determinants of Health domains. RESULTS: Clinicians described multi-level factors shaping genetic testing practices, including patient-provider interactions, clinical workflows, health system infrastructure, and broader policy contexts. Key themes included challenges communicating complex genetic information across language and literacy differences; patient trust shaped by prior healthcare experiences; fragmented insurance coverage separating genetic testing from genetic counseling; and challenges interpreting variants of uncertain significance, particularly for populations underrepresented in genomic reference databases. Clinicians also described adaptive strategies-such as interdisciplinary collaboration, telehealth, and patient assistance programs-that supported testing in some settings but were often inconsistent or resource-dependent. CONCLUSION: Among cardiologists using genetic testing, system-level and sociocultural factors shape the feasibility and downstream use of cardiovascular genetic testing. Findings highlight considerations for public health-informed genomic infrastructure that accounts for social context, supports communication, and reduces reliance on individual clinician workarounds, with implications for clinical decision support and related public health genomics initiatives.

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Publication Details

Journal
Public Health Genomics
Published
2026-10-27
DOI
https://doi.org/10.1159/phg/aenag006
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Cardiologists’ perspectives on sociocultural and structural factors shaping cardiovascular genetic testing

Marc S. Williams, Katrina M. Romagnoli, Jazmine L. Gabriel, Ana Morales et al.
3 links
Public Health Genomics
Genomics and Rare Diseases
article

Cardiologists’ perspectives on sociocultural and structural factors shaping cardiovascular genetic testing

Marc S. Williams, Katrina M. Romagnoli, Jazmine L. Gabriel, Ana Morales, Heather M. Ramey
article en

Abstract

INTRODUCTION: Genetic testing is increasingly central to the diagnosis and management of cardiovascular genetic conditions. However, use and follow-through vary across patient populations. Examining clinician perspectives on sociocultural and structural factors influencing testing is important for understanding these differences and informing public health genomics research and implementation efforts. METHODS: We conducted semi-structured interviews with 15 cardiologists from health systems across the United States who have integrated cardiogenetics in their practice. Interviews explored experiences diagnosing cardiovascular genetic conditions among patients from underrepresented backgrounds, as well as approaches to incorporating social and contextual information into care. Data were coded thematically and analyzed using a framework analysis guided by the Health Equity Implementation Framework and Social Determinants of Health domains. RESULTS: Clinicians described multi-level factors shaping genetic testing practices, including patient-provider interactions, clinical workflows, health system infrastructure, and broader policy contexts. Key themes included challenges communicating complex genetic information across language and literacy differences; patient trust shaped by prior healthcare experiences; fragmented insurance coverage separating genetic testing from genetic counseling; and challenges interpreting variants of uncertain significance, particularly for populations underrepresented in genomic reference databases. Clinicians also described adaptive strategies-such as interdisciplinary collaboration, telehealth, and patient assistance programs-that supported testing in some settings but were often inconsistent or resource-dependent. CONCLUSION: Among cardiologists using genetic testing, system-level and sociocultural factors shape the feasibility and downstream use of cardiovascular genetic testing. Findings highlight considerations for public health-informed genomic infrastructure that accounts for social context, supports communication, and reduces reliance on individual clinician workarounds, with implications for clinical decision support and related public health genomics initiatives.

Public Health Genomics
National Institutes of Health
Good health and well-being, Reduced inequalities
Openalex Percentile: Top 14%
Genomics and Rare Diseases
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