Genetics/Genomics News

Healio and Cardiology Today present meeting highlights from the FH Foundation’s FH Global Summit on familial hypercholesterolemia, featuring the latest news in the use of cholesterol medication, patient screening, artificial intelligence and more.

PHILADELPHIA — Gene sequencing was used to identify a subset of patients with sudden cardiac death through pathogenic or likely pathogenic variants, according to data presented at the American Heart Association Scientific Sessions.

ATLANTA — In this video exclusive, Daniel J. Rader, MD, chair of the department of genetics, chief of the division of translational medicine and human genetics, the Seymour-Gray Professor of Molecular Medicine at the University of Pennsylvania Perelman School of Medicine and chief science adviser for the FH Foundation, spoke with Katherine Wilemon, founder and CEO of the FH Foundation, about major takeaways from the FH Foundation’s FH Global Summit, which focused on familial hypercholesterolemia as a driver for precision public health.

ATLANTA — A machine learning model was able analyze large health-care encounter databases to identify patients with familial hypercholesterolemia, according to data presented at the FH Foundation’s FH Global Summit.

CHICAGO — In this video exclusive, Elizabeth McNally, MD, PhD, cardiologist and director of the Center for Genetic Medicine at Northwestern University, discusses implications of straight-to-consumer genetic testing, the subject of her presentation at the Cardiometabolic Health Congress.

New data published in JAMA Network Open show that PCSK9 genetic variants were not associated with the risk for sepsis or sepsis outcomes in patients hospitalized with infection.

Researchers performed in-depth genetic and phenotypic characterization of children with primary cardiomyopathy and their first-degree family members.

PARIS — A strategy guided by CYP2C19 genotyping conferred reduced bleeding risk and similar thrombotic risk compared with standard treatment in patients needing oral P2Y12 inhibitor therapy after PCI with stenting for STEMI, according to findings from the POPular Genetics trial presented at the European Society of Cardiology Congress.

PARIS — Lifelong genetic exposure to lower systolic BP and lower LDL levels was linked with lower CV risk, according to data presented at the European Society of Cardiology Congress.

Genetic counseling has been shown to play an important role in improving outcomes in patients who inherited CVD in a study previously presented at a conference held by the National Society of Genetic Counselors. Cardiology Today spoke with Brittney Murray, MS, CGC, genetic counselor in the arrhythmogenic right ventricular dysplasia/cardiomyopathy program at Johns Hopkins Hospital, about the study she and her colleagues conducted and how genetic counseling can be beneficial in this patient population.