Genomics and Precision Health Posts

Get up to Speed on the Latest Developments in the Field! Register for the ORISE Current Issues in Genomics and Precision Public Health Online Training Event, September 7–8, 2023.

Advances in genomics, data science, machine learning, and artificial intelligence are transforming practice. Next generation public health and medical workforces need to understand these developments and how they can be used to benefit population health. Recognizing this challenge, Oak Ridge Institute for Science and Education (ORISE) is partnering with the Office of Genomics and Precision Read More >

August 9, 2023 by Will White, Oak Ridge Institute for Science and Education; Mindy Clyne, W. David Dotson, Scott Bowen and Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta GeorgiaLeave a comment

genomics, precision public health

Persistent Underutilization of BRCA Testing for Breast and Ovarian Cancer in the United States: Implications for Health Disparities

a map of the US with a crowd and BRCA Testing above it

Two recent studies document ongoing underutilization and disparities in genetic testing for patients with breast and ovarian cancer. BRCA1 and BRCA2 (BRCA) genetic testing is supported by clinical guidelines to inform hereditary cancer risk for people with certain personal or family health histories of breast, ovarian, pancreatic, or prostate cancer, and to guide treatment decisions Read More >

July 25, 2023 by Lu Shi, Katherine Kolor, Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment

breast cancer, genomics

BRCA testing

The Promise of Population-based Genomic Screening for Selected Hereditary Conditions: Contributions of Cost-Effectiveness Analysis

individuals connected with DNA and dollar bills in the background

It is estimated that 3 million people in the United States carry pathogenic variants that increase their risks for heart disease and cancer. If people with such variants are identified, medical interventions are available to significantly reduce morbidity and mortality. However, existing recommendations tend to emphasize family-based or ethnic-specific criteria to determine at-risk individuals for Read More >

July 14, 2023 by Nandana D. Rao, Lu Shi, Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment

genomics, Population screening

cost effectiveness, hereditary conditions

Data for Action in Public Health Genomics: Ensuring Equitable Implementation of Genomic Applications Across the Lifespan

data, a babies foot, a genetic counselor talking to a woman, an extended family

In the more than 20 years since the completion of the Human Genome Project, basic and clinical research have delivered on the promise to develop genomic applications that can help prevent and treat many diseases across the lifespan. However, efforts to ensure equitable implementation of genomic applications have fallen short particularly among racial and ethnic Read More >

June 23, 2023 by Muin J. Khoury, Katherine Kolor and Scott Bowen, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment

genomics, public health

data for action

Population-based Genomic Screening Programs: The Need for Optimal Implementation to Ensure Health Equity

a crowd, a hand holding DNA sequence, three diverse people, and a double helix

Population genomic screening of adults has emerged as a strategy to promote prevention of common diseases such as cancer and heart disease among persons with genetic conditions. This type of screening has the potential to identify millions of currently undetected people in the United States who are at risk of preventable diseases for which evidence-based Read More >

June 20, 2023 by Nandana D. Rao, W. David Dotson, Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment

genomics, population health, Population screening

health equity

Tracking the Contributions of Implementation Science to the Population Health Impact of Genomics and Precision Health: A New Knowledge Base

Original Genomics Precision Health Studies, 2013–2023*

Successful implementation of evidence-based genomic and precision health interventions requires an understanding of what works and what doesn’t work within the context of various clinical and public health settings. Research and evaluation that incorporate implementation science tools and methods into the translation of these interventions facilitate this. Here we present a new CDC knowledge base, Read More >

June 16, 2023 by Mindy Clyne, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia; Megan C. Roberts, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment

genomics

implementation, population health

Cost-effectiveness of Pharmacogenomic Testing: How to Measure the Value of Having the Right Dose of the Right Drug for the Right Patient

a stethoscope with money, pills with DNA inside them, a crowd and a few people in the inner circle being target, and a doctor talking to a patient in a hospital bed

A recent systematic review that assessed the cost-effectiveness of pharmacogenetic testing for drugs with existing guidelines concluded that most studies favored pharmacogenomic testing. The significance of this conclusion must be interpreted with caution and in the context of study factors, such as funding sources, geography, cohort, and the cost-effectiveness comparisons being made. Pharmacogenomics (PGx) combines Read More >

May 8, 2023 by Lu Shi, Zhuo Chen, W. David Dotson, Katherine Kolor, Scott Grosse, Muin J. Khoury {Office of Genomics and Precision Public Health, National Canter on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia}Leave a comment

genomics, pharmacogenomics

cost effectiveness, genetic testing

Tracking the Impact of the All of Us Research Program: The All of Us Reports and Publications Database

All of Us Research Program with a spotlight on a diverse group of people

The All of Us Reports and Publications Database (AofURPD) is a continuously updated, searchable database referencing and linking to peer reviewed journal publications, preprint records, as well as select information from websites and media sources that relate to the All of Us Research Program. This blog provides a baseline overview of the content of the Read More >

March 28, 2023 by Mindy Clyne, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia; Sheri Schully, All of Us Research Program, National Institutes of Health, Bethesda, Maryland; Wei Yu and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia3 Comments

genomics

all of us

Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice

shadows of three children with a COVID-19 virus and DNA

In this post, we explore how new research on rare genetic diseases is contributing to our understanding of COVID-19 occurrence and outcomes and discuss potential clinical and public health implications. Understanding the mechanisms involved in these inherited disorders may shed light on biological mechanisms and natural history of COVID-19. Primary Immunodeficiency and COVID-19 Primary immunodeficiency (PI)—often Read More >

March 27, 2023 by Emily Drzymalla, Muin J. Khoury, and Marta Gwinn, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment

genomics, primary immunodeficiency

COVID-19, rare disease

A Piece of a Puzzle – The All of Us Research Program and Cancer

cancer and a puzzle piece and All of US with a crowd

A recent article discusses the promise of precision medicine research for cancer prevention and control in the National Institutes of Health (NIH)’s All of Us research program. In 2015, then-President Barack Obama announced the precision medicine initiative to “bring us closer to curing diseases, such as cancer and diabetes — and to give all of Read More >

February 27, 2023 by Kevin Littrell and Muin J. Khoury, Office of Genomics and Precision Public Health, CDC; Sun Hee Rim, Division of Cancer Prevention and Control, CDCLeave a comment

cancer, genomics

all of us