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Last Posted: Dec 02, 2022
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Equitable and Informed Consent in Genetic Studies.
Navar Ann Marie et al. JAMA cardiology 2022 11

As costs of genetic sequencing have declined and access to testing has become more widespread, genetic epidemiology studies are increasingly conducted to identify new pathogenic variants and understand the prevalence and implications of known pathogenic variants. Ensuring diversity in these studies is critical to ensure the generalizability of their results. Unfortunately, people of African and Latin American ancestry and Indigenous populations are underrepresented in clinical research and even more so in genetic studies. This is a particular concern in nonischemic dilated cardiomyopathy (DCM), a disease that disproportionately affects Black persons in the United States.

Knowledge of Genome Sequencing and Trust in Medical Researchers Among Patients of Different Racial and Ethnic Groups With Idiopathic Dilated Cardiomyopathy.
Ni Hanyu et al. JAMA cardiology 2022 11

What is the level of genetic knowledge and trust in medical researchers among Hispanic participants, non-Hispanic Black participants, and non-Hispanic White participants in a cardiovascular genetic study? In this cross-sectional study of 1121 patients with dilated cardiomyopathy, the genome-sequencing knowledge level was lower in Hispanic and non-Hispanic Black patients than non-Hispanic White patients. Trust in medical researchers was lowest in non-Hispanic Black patients; a higher trust level was associated with a higher level of genome-sequencing knowledge within racial and ethnic groups.

Genetic Basis of Childhood Cardiomyopathy
RD Bagnall et al, Circ Genomics Prec Medicine, October 12, 2022

We recruited children from a pediatric cardiology service or genetic heart diseases clinic. We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Genetics and Genomics guidelines. The highest genetic testing diagnostic yields were in restrictive cardiomyopathy (n=16, 80%) and hypertrophic cardiomyopathy (n=65, 66%), and lowest in dilated cardiomyopathy (n=26, 29%) and left ventricular noncompaction (n=3, 25%). Pathogenic variants were primarily found in genes encoding sarcomere proteins, with TNNT2 and TNNI3 variants associated with more severe clinical outcomes.

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo Lisa M et al. JAMA cardiology 2022 8

In this cohort study of 4782 patients with a suspected genetic cardiomyopathy or arrhythmia, combined cardiomyopathy and arrhythmia testing revealed clinically relevant variants in 1 in 5 patients, and 66.0% of patients with positive findings had potential clinical management implications. The combined testing approach captured 10.9% of patients who would have been missed if genetic testing had been restricted to a specific suspected disease subtype.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.