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Last Posted: Nov 18, 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.

Small Interfering RNA to Reduce Lipoprotein(a) in Cardiovascular Disease.
O'Donoghue Michelle L et al. The New England journal of medicine 2022 11

Lipoprotein(a) is a presumed risk factor for atherosclerotic cardiovascular disease. Olpasiran is a small interfering RNA that reduces lipoprotein(a) synthesis in the liver. We conducted a randomized, double-blind, placebo-controlled, dose-finding trial involving patients with established atherosclerotic cardiovascular disease and a lipoprotein(a) concentration of more than 150 nmol per liter. Olpasiran therapy significantly reduced lipoprotein(a) concentrations in patients with established atherosclerotic cardiovascular disease. Longer and larger trials will be necessary to determine the effect of olpasiran therapy on cardiovascular disease.

AI detection of cardiac dysfunction from consumer watch ECG recordings
Nature Medicine, November 14, 2022

To enable large-scale screening for left ventricular dysfunction — a serious and under-detected cardiac disease — we applied artificial intelligence to electrocardiograms recorded by patients using their own Apple watches in a prospective, digital, remote study. We found that patients engaged with the system and that the watch electrocardiograms effectively screened for the disease.

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Site Citation:
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1

Disclaimer: Articles listed in the Public 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.