Research
Study supports genetic testing for people with cerebral palsy Meta-analysis shows genetic testing should be standard of care for CP A Geisinger meta-analysis of recent research on the genetics of cerebral palsy (CP) provides evidence that genetic testing should be offered as the standard of care for people with the disorder, similar to current recommendations for people with other neurodevelopmental disorders (NDD). The findings were published in JAMA Pediatrics. Sequencing of the whole genome — all genetic information in the body — or the exome — the genome’s protein-coding regions — is a standard
diagnostic test for people with NDD. However, this recommendation does not currently include CP, so people with the disorder may not be offered genetic testing unless they also have a NDD. “Waiting for a co-occurring diagnosis of intellectual disability or autism in an individual with cerebral palsy to consider genetic testing is a missed opportunity to improve clinical outcomes,” said Andres Moreno De Luca, MD, MBA, physicianscientist and clinical neuroradiologist.
Knowing the genetic cause of high cholesterol predicts disease risk better than cholesterol levels alone, study finds Study participants with a genetic variant linked to high cholesterol were more likely to develop heart disease Having a genetic cause of high cholesterol increases the risk of heart disease more than having high cholesterol levels alone, a Geisinger-led study found. An estimated 6% to 13% of Americans have very high levels of low-density lipoprotein (LDL) cholesterol, known as severe hypercholesterolemia. These high LDL levels increase the risk of heart disease, heart attack and stroke. The research team included Geisinger investigators Matthew Oetjens, PhD, MS, Alexander Berry, PhD, Laney Jones, PharmD, and Samuel Gidding, MD. They evaluated genetic data from 11,738 UK
Biobank participants who had high LDL levels. The team observed a small difference in the rate of heart disease between those with the lowest LDL and highest LDL levels. However, when participants were grouped by the specific genetic cause of their condition, there were distinct differences in the rates of disease. For example, people with a single gene variant linked to high cholesterol or with elevated lipoprotein (a), a form of LDL cholesterol, had a significantly increased risk of future disease when compared to the rest of the study participants. The results were published in Arteriosclerosis, Thrombosis and Vascular Biology.
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