Genomics and Precision Health Posts
From Guthrie to Genomes: The Continued Evolution of Newborn Screening
Two recent articles by Bick et al. and Watson et al. discussed the future of newborn screening and identified considerations and needs for the evolution of the newborn screening system as it tries to meet the growing demands to screen for more rare diseases and incorporate genomic technologies. As newborn screening (NBS) moves past 60 Read More >
Posted on by 1 CommentMeasuring Lipoprotein(a) in Clinical Practice to Reduce the Burden of Cardiovascular Disease? Still Work in Progress.
A recent review suggested that the use of lipoprotein (Lp) (a) measurement in clinical practice may have clinical and economic benefits for patients, healthcare systems, and society as a whole. However, widespread adoption of Lp(a) measurement in the general population has been hindered by limited treatment options targeting Lp(a) reduction. Cardiovascular disease (CVD) remains the Read More >
Posted on by 3 CommentsImproving access to genetic services for underserved populations: Amish, Mennonite, and other Plain communities
Lack of access to genetic services in rural areas could contribute to disparities in quality of care, but tailored approaches can overcome some barriers and improve care. Here we present the example of the Midwest Genetics Network (MGN) outreach with the Plain communities. Plain people are descendants of the Anabaptists who emigrated to the United Read More >
Posted on by Leave a commentCalling on All of Us Public Health Scientists
The All of Us Research Program data provide a unique platform for public health scientists interested in using large-scale data to improve population health. Scientists at the Centers for Disease Control and Prevention and elsewhere can now access and analyze data from the National Institutes of Health’s All of Us Research Program. In this post, Read More >
Posted on by Leave a commentFulfilling the Promise of Epigenetics Requires More Studies in Diverse Populations
Two recent articles, one in Nature Genetics and another in Genome Medicine, report the lack of racial and ethnic diversity in epigenetic research. This needs to change in order to fulfill the promise of epigenetics as a tool for health equity science. Health equity is the state where everyone has a fair and just ability Read More >
Posted on by Leave a commentPrecision Health Innovations in the Pandemic Era
Two recent articles, one in Nature Medicine and another in Nature Biotechnology, highlight areas of health innovation that have been accelerated by the COVID-19 pandemic. This blog post focuses on two precision health applications of technology—(1) genomics and (2) wearable devices and smartphone apps—that are likely to have a lasting impact beyond the pandemic. Increased Read More >
Posted on by Leave a commentPolygenic Risk Scores in Clinical Practice? Still Making the Case
Two recent systematic reviews show the lack of data on clinical utility of polygenic risk scores and major challenges in implementation. The Promise of Polygenic Risk Scores in Population Health Many common diseases such as cancer, diabetes, and heart disease, result from the combination of genetic factors and physical and social environmental factors. Genome-wide association Read More >
Posted on by Leave a commentPopulation Genomic Screening is Here: We Need Evidence on Health Impact and Optimal Implementation
A recent study identified 12 population-based genomic screening programs in the United States and described their implementation logistics and potential health impact. In the past decade, the promise of genomic screening in the general population has garnered increasing interest due to a combination of factors such as enhanced sequencing capabilities, lowered costs of testing, and Read More >
Posted on by 2 CommentsCan’t Stop, Won’t Stop: The Resiliency of Newborn Screening Programs during the COVID-19 Pandemic
A recent article identified the impact of the COVID-19 pandemic on the newborn screening system and highlighted the importance of collaboration and technical assistance to ensure ongoing operations of this essential public health service. The ongoing COVID-19 pandemic stressed, disrupted, and fundamentally changed the public health system in the United States. While much of the Read More >
Posted on by Leave a commentGenomics and Health Equity: Reaching Asian American, Native Hawaiian, and Pacific Islander Communities
On April 29, 2022, President Biden proclaimed May as Asian American, Native Hawaiian, and Pacific Islander Heritage month to “recognize the innumerable contributions, vibrant cultures, and rich heritage” of Asian Americans, Native Hawaiians, and Pacific Islanders (AA and NHPIs). In addition, the proclamation highlights the Administration’s work reducing poverty among AA and NHPI families and Read More >
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