Uncovering Hidden Genetic Risks in Hispanic/Latino Communities: Lessons from a Dominican Heart Mutation

Precision medicine aims to tailor health care solutions to individual genetics, environment, and lifestyle. However, a significant challenge remains: ensuring diverse populations are adequately represented in research and data that drive these personalized treatments. Recent findings have shed light on this issue through the discovery of a rare genetic mutation within the Hispanic/Latino community, specifically among Dominicans.

In a study involving over 12,000 Hispanic/Latino adults in the United States, researchers identified the Val122Ile mutation in the transthyretin (TTR) gene, which is a known cause of hereditary transthyretin amyloid cardiomyopathy—a progressive, often underdiagnosed heart condition that can lead to heart failure and sudden death if not detected early. Strikingly, this mutation was disproportionately present in individuals of Dominican descent, with a prevalence of approximately 2.6%, which is ten times higher than other Hispanic/Latino groups and nearly equivalent to the 3.0% observed in African Americans.

This is the first population-based study to analyze the Val122Ile mutation within community-dwelling Hispanic/Latino populations, highlighting a critical gap in current understanding and clinical practice. Traditionally studied mainly in African American groups due to its higher frequency in West African ancestry, the mutation's presence in Dominicans underscores the importance of considering genetic admixture—comprising African, European, and Indigenous American roots—in assessing individual risk.

Hispanic/Latino populations are often genetically mixed, and this complexity influences disease risk and detection. Our research shows that individuals with higher African ancestry are more likely to carry the Val122Ile mutation. Among the subgroups, Dominicans showed the highest prevalence, emphasizing the need for ancestry-informed screening protocols. Currently, many physicians are unaware of this genetic risk in Hispanic/Latino communities, which hampers early diagnosis and treatment.

Advances in treatment options for cardiac amyloidosis, such as TTR-stabilizing medications and imaging techniques like technetium pyrophosphate scans, make early detection even more crucial. Yet, without proper screening based on genetic ancestry, many at-risk individuals remain undiagnosed. Our findings advocate for a broader, more inclusive approach to precision medicine that incorporates genetic diversity, especially in admixed populations.

Using data from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), which disaggregates data across distinct heritage groups, we demonstrated that risk profiles are not uniform and are significantly influenced by ancestry. This approach helps move beyond broad ethnic labels, allowing clinicians to recognize hidden risks and tailor screening accordingly.

The core lesson is clear: understanding genetic diversity within populations is vital for equitable healthcare. Expanding research and improving guidelines to reflect this diversity can lead to earlier interventions, saving lives and reducing health disparities.

Our work emphasizes that the future of precision medicine must include all populations in meaningful ways. Only then can we realize its full potential to prevent disease, provide equitable care, and truly individualize treatment for everyone.

For more information, see the original study: Priscilla Duran-Luciano et al, 'Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos,' JACC: Advances (2025).