Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.
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Archived Hot Topics of the Day By Date
Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association
JW O'Sullivan et al, Circulation, July 18, 2022
Individuals and their physicians are increasingly presented with polygenic risk scores for cardiovascular conditions in clinical encounters. In this scientific statement, we review the contemporary science, clinical considerations, and future challenges for polygenic risk scores for cardiovascular diseases. We selected 5 cardiometabolic diseases (coronary artery disease, hypercholesterolemia, type 2 diabetes, atrial fibrillation, and venous thromboembolic disease) and response to drug therapy and offer provisional guidance to health care professionals, researchers, policymakers, and patients.
Early treatment is a lifeline for infants with SMA.
Sumner Charlotte J et al. Nature medicine 2022 7
In the phase 3 SPR1NT trial, pre-symptomatic gene therapy demonstrated impressive clinical outcomes in infants with a genetic diagnosis of spinal muscular atrophy (SMA); long-term safety follow-up of these patients must now be a key priority.
Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis
SS Kuo et al, JAMA Pediatrics, July 18, 2022
Using retrospective, parent-report data from 17?098 autistic individuals in this cross-sectional study we found substantial variability in average developmental milestone acquisition. Average delays increased with co-occurring intellectual disability, presence of a genetic variant associated with neurodevelopmental disorders, earlier autism diagnosis, and participation in older autism cohorts, and average delays also were larger for later milestones (eg, phrase speech, bowel control) than earlier milestones (eg, smiling, sitting).
Dynamic prediction of mortality after traumatic brain injury using a machine learning algorithm
R Rai et al, NPJ Digital Medicine, July 18, 2022
We retrained and externally validated a machine learning model to dynamically predict the risk of mortality in patients with TBI. Retraining was done in 686 patients with 62,000?h of data and validation was done in two international cohorts including 638 patients with 60,000?h of data. The area under the receiver operating characteristic curve increased with time to 0.79 and 0.73 and the precision recall curve increased with time to 0.57 and 0.64 in the Swedish and American validation cohorts, respectively.
COVID-19: a challenge and an opportunity.
Renieri Alessandra et al. European journal of human genetics : EJHG 2022 7
COVID-19 is the first disease in which environmental factors are well defined. Heritability (h2) as calculated by gV/gV+aV is very high in COVID-19, similarly to psychiatric disorders. While media are taking care mainly of the viral genome, the host genome is the real discriminant between severe COVID-19 and asymptomatic SARS-CoV-2 infection. Therefore, while COVID-19 is representing a challenge for the health systems and society, it is the first real opportunity to move forward on understanding mechanisms and new rules useful in clinical practice of complex disorders,
Fulfilling the Promise of Epigenetics Requires More Studies in Diverse Populations
E Drzymalla et al, CDC Blog Post, July 18, 2022
While much has been said about the importance of diversity in genomics research, we are only beginning to realize the importance of diversity in epigenetics. More epigenetic research needs to be undertaken in diverse populations with different genetic and environmental factors. This will go a long way towards fulfilling the promise of epigenetics as a tool for health equity science.