Health Equity and Genetic Disorders

three people of color and a wheelchair

What is Health Equity?

Health equity means that everyone has the opportunity to be as healthy as possible. Lack of health equity among people and communities can result in

  • Reduced length and quality of life
  • Increased rates of disease, disability, and death
  • Increased disease severity

Challenges in Achieving Health Equity for People with Genetic Disorders

Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

Many people with genetic disorders are more likely to

  • Have health problems
  • Require specialized care
  • Be hospitalized
  • Have higher health care costs
  • Need to take time off work or school
  • Die at a younger age

In addition, many people with genetic disorders face barriers to health equity that are related to social determinants of health, which refer to conditions in the places where people live, learn, work, and play that affect health and quality of life. Social determinants of health can affect whether people with genetic disorders

CDC’s Office of Genomics and Precision Public Health (OGPPH) works to promote health, prevent disease, and reduce health inequities for people with genetic disorders of all ages, so they can have the opportunity to be as healthy as possible.

How OGPPH Supports Health Equity for People with Genetic Disorders

  • Work to increase identification of people with genetic disorders to prevent disease or find it early
    Many people with genetic disorders remain undiagnosed, which limits them from taking steps to prevent disease or find it early, when it is more treatable. Finding people with genetic disorders is an important step in improving their health. To address health inequities, approaches to identify those with genetic disorders must be applied broadly and equitably across different communities and populations.
    • Identify when genomic tests and family health history can help guide medical care to prevent disease
      The CDC Office of Genomics and Precision Public Health (OGPPH) maintains a database of genomic testing, family health history, and precision health guidelines categorized by the highest level of evidence they contain. Guidelines categorized as tier 1, meaning they are ready for use in clinical settings, are available for cystic fibrosis, sickle cell disease, hereditary breast and ovarian cancer, Lynch syndrome, hereditary hemochromatosis, hypertrophic cardiomyopathy, and other conditions. OGPPH works to increase awareness of these applications to broaden their use.
    • Promote collection and sharing of family health history information using My Family Health Portrait
      Many people with genetic disorders can be identified through family health history, yet family history remains underused in clinical care. To address this, OGPPH promotes the use of family health history information across populations for different common chronic conditions. OGPPH hosts My Family Health Portrait, a free, online tool that can be used to collect family health history and assess risk for certain conditions. A paper version of the tool is available in English pdf icon[PDF 436 KB] and Spanish pdf icon[PDF 868 KB] for those who do not have access to the online version.
    • Increase awareness of inherited genetic disorders through web pages and blogs
      The OGPPH website includes information written for the general public on family health history, genetic counseling and testing, and many different genetic disorders, as well as Genomics and Precision Health Blog posts addressing health equity issues.
  • Increase understanding of inequities in use of genetic services and health outcomes for people with genetic disorders
    Identifying and measuring inequities in use of genetic services and health outcomes for people with genetic disorders is an important first step in addressing these inequities.
    • Published study looking at use of BRCA testing in women residing in metropolitan and non-metropolitan areas
      Using claims data from Marketscan, OGPPH found that women living in non-metropolitan areas had lower rates of BRCA testing and use of some preventive services, compared with women living in metropolitan areas.
    • Identify relevant publications in Health Equity PHGKB database
      Health Equity PHGKB is an online, continuously updated, searchable database of genomics and precision health information and publications relevant to health equity.

In addition to OGPPH, other groups at CDC work on health equity for people with genetic disorders. For example, the Division of Cancer Prevention and Control (DCPC) launched the Bring Your Brave campaign to broaden awareness of breast cancer in young women, many of whom have hereditary breast and ovarian cancer syndrome. DCPC’s Cancer Genomics Program  included activities that address health inequities in funded states.

Page last reviewed: August 30, 2021