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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