–Pilot study confirms feasibility, but clinical value for healthy-seeming people is not obvious Whole genome sequencing (WGS)may one day play an important role in routine medical practice. But the results of a small study suggest that WGS, though perhaps promising, is certainly not ready for prime time. The price of WGS has dropped spectacularly in…
LDL-Lowering Genetic Variants Linked to Diabetes Risk
October 6, 2016 by 1 Comment
–What can genetics tell us about diabetes incidence with cholesterol drugs? Editor’s note: The following guest post was contributed by Marilyn Mann, a well-known advocate for patients with familial hypercholesterolemia and a patient advisor to Circulation: Cardiovascular Quality and Outcomes. In a study published in the Journal of the American Medical Association, several LDL-lowering genetic…
Imprecise Medicine: Genetic Tests Lead To Misdiagnosis
August 17, 2016 by 2 Comments
–Some black Americans were wrongly told they had a high risk for hypertrophic cardiomyopathy. Precision medicine offers the promise of an accurate assessment of individual risk for serious conditions like hypertrophic cardiomyopathy (HCM). But a new report published in the New England Journal of Medicine,” which the authors describe as “a cautionary tale of broad…
ASGR1 Gene Tied to Heart Health
May 18, 2016 by 1 Comment
(Updated) –May have stronger impact than PCSK9 variants on disease risk A large new study from Iceland has identified variants in a gene that appear to have powerful cardioprotective effects, perhaps an first early step toward a novel therapy for heart disease prevention and treatment. The gene, ASGR1, was identified by the well known genetic…
Confusion In The Age Of Genetic Information
March 15, 2016 by Leave a Comment
(Updated)– We may live in the age of information but we really have no idea how to use all that information, especially when it comes to health. One new study, published in the BMJ, is a good illustration of this principle. “There are high expectations that advances in genetics will usher in a new era…
Studies Spotlight Role Of Triglycerides, Put HDL In The Background
March 11, 2016 by Leave a Comment
Two new studies provide more evidence tilting the balance in favor of triglycerides rather than HDL playing a causative role in cardiovascular disease. But it is still too early to know whether the findings of any of the studies will point to useful new methods to prevent and treat disease. In the first study, published…
Large Genetic Studies Support Role For Triglycerides In Cardiovascular Disease
March 3, 2016 by 2 Comments
Two papers published in the New England Journal of Medicine offer new genetic evidence to support the increasingly accepted though still controversial view that triglycerides play an important causal role in cardiovascular disease. If fully validated the new findings could lead to new drugs to prevent and treat cardiovascular disease, though others caution that there…
Precision Medicine, Stuck In Second Grade, Flunks Test Of Clinical Utility
January 5, 2016 by 4 Comments
One of the great scientific achievements of the past generation has been the identification and characterization of the genetic underpinnings for many diseases. By combining genetic information with other forms of research doctors have been able to reach a much deeper understanding of many diseases. In a few cases genetic information has proved useful in screening…
It’s Complicated! Large Genetic Study Of Coronary Disease Shows How Much We Don’t Know
September 8, 2015 by Leave a Comment
We still have a very long way to go before we understand the genetic underpinnings of coronary artery disease, according to the largest and most comprehensive study in the field performed to date. In a series of tweets Sekar Kathiresan, a co-leader of the study, summarized the meta-analysis of genome-wide association studies, which was published in Nature Genetics: Our…
Prominent Harvard Cardiologist Moves To Google X To Head Large Study
May 11, 2015 by Leave a Comment
Here’s a clear sign of the ascending role of digital/precision/personalized medicine: a prominent cardiologist has left a top academic and clinical position in Boston to run a large, innovative study in Silicon Valley. Jessica Mega was widely perceived as a rising star at Harvard Medical School and the Brigham and Women’s Hospital. She has now joined Google X, Google’s research arm,…
Precision Medicine Approaches Peak Hype
May 6, 2015 by Leave a Comment
No, Personalized Medicine Isn’t Going To Save $600 Billion Over 50 Years By Preventing Heart Disease The hype over personalized medicine has now reached astonishing new heights. In an article published in the Lancet, Victor Dzau, the new president of the Institute of Medicine, and coauthors write that personalized and precision medicine (PPM) could deliver hundreds of billions of dollars worth…
Genetic Study Suggests Possible Causal Role for LDL in Aortic Valve Disease
October 26, 2014 by Leave a Comment
Although LDL is an important risk factor for aortic valve disease, the precise role it plays has been uncertain. Lipid-lowering therapy in people with established aortic valve disease has not been shown to be beneficial. Now, however, a new genetic study published in JAMA suggests that LDL cholesterol may in fact cause an increase in aortic valve calcium…
The Y Chromosome May Explain Why Men Have Earlier Coronary Disease
February 9, 2012 by 1 Comment
The earlier onset of coronary artery disease in men has long provoked speculation and research. Now a new study in the Lancet suggests that common variations in the Y chromosome (which is transmitted directly from father to son and does not undergo recombination) may play an important role in the increased risk seen in men. Using…
NPY gene linked to early CV disease
January 5, 2009 by Leave a Comment
Duke researchers have linked variations in the neuropeptide Y (NPY) gene to early cardiovascular disease. The article appears in the Public Library of Science Genetics. You can read a news story at Science Daily. …
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