Category: genomics

From Polygenic Risk Scores to Methylation Risk Scores: What are the Clinical Applications?

Polygenic risk score and a figure with a stethoscope

A recent study used methylation risk scores to improve predictive value of baseline models for a range of clinical diagnoses and laboratory tests. The ability to understand and predict a person’s risk of disease is an integral component of precision medicine and precision public health. Many factors, including environmental and genetic, contribute to a person’s Read More >

Posted on by Emily Drzymalla, Danielle Rasooly, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

Genetic Discrimination and Misuse of Genetic Information: Areas of Possible Discrimination, Current Legislation, and Potential Limitations

a hand holding a globe with a seesaw made out of a double helix

The emergence and the rapid development of various genetic technologies and their incorporation into precision medicine have greatly expanded medicine’s capabilities. At the same time, concerns about the availability and dissemination of vast amounts of personally relevant data have focused attention on potential problems of genetic discrimination. Over the past three decades, concerns about genetic discrimination Read More >

Posted on by Seon Gyu Lee, W. David Dotson, and Leonard Ortmann, Office of Science, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

Trends in Tier 1 Genomic Applications 2013-2022

two figures looking at genomics trends with the text Tier 1 Applications

The CDC Tier 1 genomic applications database can help consumers, providers, health care organizations and public health programs accelerate the translation of genomic discoveries into improved population health.       Background Advances in genomics and precision medicine are proceeding at a rapid pace. Many genomic tests have reached clinical practice without clear indication as to whether their Read More >

Posted on by Mindy Clyne, W. David Dotson, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

Genomics, Health Equity, and Global Health

two hands holding the world surrounding by DNA and a crowd

The World Health Organization’s Science Council recently issued its first report on accelerating access to genomics for global health. The report makes a strong case for less-resourced countries to gain access to such technologies. Although remarkable progress has been made in the translation of genomic discoveries into health benefits, in 2020, the World Health Organization (WHO) reminded Read More >

Posted on by Jeffery Osei, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia; George Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, Blood Institute, Bethesda, Maryland; Muin J. Khoury, Office of Genomics and Precision Public Health, Atlanta, GeorgiaLeave a commentTags ,

From the Genome to the Exposome: Mapping Causal Associations Between Environmental Factors and Population Health

Environmental factors such as lifestyle, diet, and exposure to toxins and chemical agents, can play an important role in our health. Complementary to the “genome,” which is the complete set of an individual’s genetic information, the “exposome” represents an individual’s complete set of environmental exposures throughout their lifetime. Coined in 2005, the “exposome” captures the Read More >

Posted on by Danielle Rasooly, Emily Drzymalla, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags , ,

From Guthrie to Genomes: The Continued Evolution of Newborn Screening

a newborn foot with sequencing and DNA

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 Amy Gaviglio, MS, CGC, 4ES Corporation, Cynthia Hinton, PhD, Suzanne Cordovado, PhD, Rosemary Hage, PhD, and Carla Cuthbert, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention1 Comment

Measuring Lipoprotein(a) in Clinical Practice to Reduce the Burden of Cardiovascular Disease? Still Work in Progress.

lipoprotein in clinical setting

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 Jeffery Osei, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia; Laurence S. Sperling, Million Hearts initiative, Division for Heart Disease and Stroke Prevention, Centers for Disease Control and Prevention, and Emory Clinical Cardiovascular Research Institute, Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta Georgia; Ijeoma Isiadinso, Emory Center for Heart Disease Prevention, Division of Cardiology, Emory University School of Medicine, Atlanta Georgia; Ridgely Fisk Green, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta Georgia3 CommentsTags ,

Improving access to genetic services for underserved populations: Amish, Mennonite, and other Plain communities

a man riding a horse and a buggy

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 Aditi Kantipuly, Mathew J. Edick, and Jane Pilditch, Center for Strategic Health Partnerships, Michigan Public Health Institute, Okemos, MI; Ridgely Fisk Green, Tanaq Support Services, LLC and Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and PreventionLeave a commentTags

Calling 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 Muin J. Khoury, Katherine Kolor, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia; Sheri Schully, Geoffrey Ginsburg, All of Us Research Program, National Institutes of Health, Bethesda, MarylandLeave a commentTags

Fulfilling the Promise of Epigenetics Requires More Studies in Diverse Populations

a diverse group of people and a double helix

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 Emily Drzymalla, Danielle Rasooly, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags