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

Posted on 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, Georgia

data, a babies foot, a genetic counselor talking to a woman, an extended familyIn 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 minority groups, rural communities, uninsured or underinsured people, and those with lower education and income.

Feeling the Genomic Pulse in the United States

In 2011, our office made a strong case for the importance of population-level data to track progress in implementation, outcomes, and disparities in genomic medicine. Just as clinicians feel the pulse of an individual patient, perform a physical exam, and order laboratory tests to diagnose and treat an individual patient, public health programs feel the pulse of an entire population using surveys and surveillance systems to assess the distribution of health problems, risk factors, and evidence-based interventions. The findings are used to inform and evaluate health policies and programs, such as vaccinations or health education campaigns. To help prioritize data for action in genomics, in 2014, our office introduced a framework for organizing public health action to maximize health impact for emerging genomics and precision health applications. Tier 1 genomic applications are supported by evidence-based guidelines, such as those from the US Preventive Services Task Force, to reduce morbidity and mortality if implemented effectively. Current tier 1 applications (see table for examples) have the potential to impact millions of people across the lifespan. Below are three case examples that illustrate the concept of data for action in public health genomics.

Hereditary Breast and Ovarian Cancer

Since 2005, genetic testing for mutations in the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes, to identify women at increased risk for hereditary breast and ovarian cancer who could benefit from preventive interventions, has been supported by evidence-based guidelines. To evaluate gaps in implementation, we assessed trends in BRCA testing and costs from 2003 to 2014 for women aged 18–64 years using private claims data and publicly reported revenues. The rate of any BRCA testing among women had increased by 57% in 2013, compared with average annual increases of 11% in the 3 preceding years. The percentage of women with zero out-of-pocket payments for BRCA testing increased during 2013–2014, after 7 years of general decline, coinciding with a clarification of Affordable Care Act coverage of BRCA genetic testing. Our analysis also documented lower BRCA testing rates in nonmetropolitan areas than in metropolitan areas. The lower rates of testing in nonmetropolitan areas may reflect differences in access to specialty care providers, including cancer genetic service providers. These data were used as part of the development of national and state-based cancer genomics programs to increase the implementation of BRCA testing in various subpopulations and will inform future public health activities.

Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a common genetic disorder, affecting more than 1 million people in the United States. FH causes lifelong high levels of low-density lipoprotein cholesterol, and if untreated, leads to a high risk of premature coronary heart disease. Most patients with FH are undiagnosed or inadequately treated with regular or high-intensity statins, leaving too many people at high risk of preventable morbidity and mortality from heart disease and stroke. Since 2008, identifying and diagnosing FH and cascade screening directed at family members has been a priority tier 1 genomic application for public health programs.

In 2013, a multidisciplinary summit involving health care, public health, research, and advocacy communities developed an action plan for reducing the burden of disease and death from familial hypercholesterolemia. The plan identified a number of solutions largely centered around data for action. Most of the elements of this plan have been implemented in the past decade, leading to increasing awareness and treatment of patients with FH. One specific policy action was a 3-year campaign by the Family Heart Foundation for the eventual adoption in 2016 of two FH-specific ICD-10 codes, FH diagnosis (code E78.01) as well as a family history of FH (code Z83.42). Previously, there was no ability to conduct surveillance for FH, as the ICD-9 codes for dyslipidemia, such as code 272.0, were not specific for FH and were usually applied to many more individuals with elevated cholesterol in the population. However, specific FH ICD-10 codes have been recently shown to have a low predictive value when compared with clinical diagnostic criteria. In order to capitalize on the successful introduction of the new specific ICD10 codes, provider education will be essential to conduct analyses of population data on incidence, prevalence, treatment, outcomes and disparities in FH in the United States.

Family Health History

In spite of the importance of family health history across the lifespan, especially among the two tier 1 applications mentioned above and many others, data on public awareness and collection of family health history has been inadequate. In 2004, our office conducted a national survey to understand awareness and collection of family health history.  Almost all of the 4,345 respondents (96.3%) considered knowledge of family history either very important or somewhat important to their health. However, substantially fewer people (1,296; 29.8%) reported actively collecting information to develop a family health history. Those who had collected a family health history were more likely to be non-Hispanic, female, and previously or currently married, and to have more than a high school education. The survey data provided an impetus to launch a national family health history initiative and the creation of the Surgeon General’s My Family Health Portrait to raise awareness and encourage collection of family health history. These data also led to numerous research activities to understand barriers and facilitators in the collection of family health history. Future communication and education initiatives need to be informed by knowledge of barriers to and facilitators in collecting and using family health history information and include a focus on health equity.

Moving Forward

Our office is currently identifying gaps in the effective implementation of tier 1 genomic applications. These include the limitations of current public health and healthcare data sources for tracking trends in genetic testing and identifying health disparities and their underlying contributors. These data are needed more than ever to drive practice, programs, and policy, to fulfill the promise of genomics to improve population health and to reduce health inequities.

Your comments and input are always welcome.

Table. Examples of Tier 1 Genomic Applications

Condition or Application Tier 1 Clinical Scenario(s) Estimated Number of People Affected in the United States
Hereditary breast and ovarian cancer syndrome Genetic referral and testing for individuals meeting personal and family history criteria

Companion diagnostic to guide cancer treatment

660,000–990,000 people living with hereditary breast and ovarian cancer
Lynch syndrome (hereditary colorectal cancer syndrome) Tumor screening for individuals with newly diagnosed colorectal cancer 1.2 million people living with Lynch syndrome
Hereditary hemochromatosis Genetic counseling and testing of specific family members of people who have a genetic diagnosis of hereditary hemochromatosis More than 650,000 people have a genotype associated with hereditary hemochromatosis
Familial hypercholesterolemia Cascade testing of first-degree relatives of people diagnosed with FH by measuring low density lipoprotein cholesterol level, genetic testing, or both 1.3 million people living with familial hypercholesterolemia
Hypertrophic cardiomyopathy Genetic testing for individuals meeting diagnostic criteria for hypertrophic cardiomyopathy More than 660,000 people living with hypertrophic cardiomyopathy
Colorectal cancer screening Screening individuals at average risk for colorectal cancer using stool DNA tests as one of several recommended modalities 1.3 million people living with colorectal cancer
Posted on 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, GeorgiaTags
Page last reviewed: June 23, 2023
Page last updated: June 23, 2023