Toward Achieving Health Equity for People with Genetic Disorders

Posted on by Muin J. Khoury, Ridgely Fisk Green, Katherine Kolor, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia

s cancer cell, a heart, a drop of blood and a babies foot in front of sequencing

If health equity is about making sure that everyone has the opportunity to be as healthy as possible, public health efforts to achieve health equity must include people with genetic disorders. Some might consider having a genetic disorder a health inequity itself—one present from birth and over which affected individuals have limited control. Thousands of inherited genetic disorders affect millions of people in the United States and lead to increased risks for many health conditions across the lifespan, including birth defects, developmental disabilities, and common chronic diseases, such as heart disease and cancer. From a health equity perspective, genetic disorders result in an increased burden of morbidity and mortality, hospitalizations, and costs associated with health expenditures and reduced economic productivity. Genetic disorders have a high risk of recurrence within families, and while the ability to use family history and genetic testing to identify those at risk—often before disease onset—offers unique opportunities for prevention, many persons with genetic disorders remain undiagnosed and untreated.

We recently embarked on a planning effort to identify public health actions in genomics and precision medicine aimed at improving population health in the next decade. We have adopted a health equity lens to these planning efforts. People with inherited genetic disorders face unique health equity challenges due to their disorder, requiring public health action that involve providing access to medical diagnosis and interventions. Added to this, many face additional burdens due to social determinants of health.

Access to health services and specialty care, including genetic services, is important for diagnosis and management of genetic disorders and is lower among some racial and ethnic minority groups, rural communities, and people with lower incomes. For example, genetic testing for hereditary breast and ovarian cancer and Lynch syndrome is lower for people in some racial and ethnic minority groups compared with non-Hispanic White persons. Even among those who are diagnosed, disparities remain for access to treatments. People with familial hypercholesterolemia who have lower incomes are less likely to start treatment with PCSK9 inhibitors and more likely to have insurance coverage for PCSK9 inhibitors denied. Disparities in diagnosis and treatment of genetic disorders influence health outcomes, which can impact broader health disparities. For example, while hereditary cancers cannot entirely account for the higher mortality of Black persons from breast and colorectal cancers, disparities in diagnosis and treatment of hereditary breast and ovarian cancer and Lynch syndrome must be addressed before full health equity can be achieved.

For many genetic disorders, evidence-based guidelines are available that can reduce morbidity and mortality and improve health outcomes. Yet, many people with genetic disorders are still not diagnosed and treated. As we move forward with identifying public health actions in genomics in the next decade, we need to address health inequities among millions of people with genetic disorders by improving overall implementation of genomic medicine and focusing on communities that are impacted the most. As we outline in our recent post, public health approaches can include data-driven policies and programs as well as workforce development, community engagement and public education to help close the health equity gap for people with genetic disorders.

The promise of genomics and precision medicine for all cannot be fulfilled if we focus our attention solely on new scientific discoveries in genomics and precision medicine, but neglect optimal implementation of interventions that can save lives and reduce health inequities in all communities.

We welcome suggestions from our readers about the most important actions public health programs can take to close the health equity divide for people with genetic disorders in the United States. Please share your thoughts in the comments box below.

Posted on by Muin J. Khoury, Ridgely Fisk Green, Katherine Kolor, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

2 comments on “Toward Achieving Health Equity for People with Genetic Disorders”

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    Without serious, thoroughgoing, and by all accounts meaningful engagement with disability communities, this promising emphasis on population health equity can – indeed, will – in the genomics context look very much like next-generation eugenics. The increased “burden” that disabled individuals and caregivers experience is more socially than genetically mitigable. The CDC should pay equal attention and devote equal resources to the ways that social aspects of disability perpetuate health disparities.

    For traditionally well-recognized genetics-related disorders like PKU, etc., many healthcare workers are familiar with standard practices for management of those disorders, and healthcare disparities can be rectified more easily (although health STATUS disparities can also involve education and socioeconomic factors/social environments).
    However, besides traditionally-recognized genetic disorders, there’s also a continually growing number of health issues which we’re beginning to learn can be influenced by genetics or by epigenetics or by gene expression manipulation, and which can be either exacerbated by or alleviated by various “environmental” factors (including various substance-related disorders, not to mention pharmaceuticals among patients whose drug-metabolizing enzymes are not typical – such as ultra-fast metabolizers or very slow metabolizers of drugs).
    To alleviate disparities in both health CARE and health STATUS (the latter often due to lack of awareness or action among some patient groups), greater educational efforts among all potential audiences should be undertaken (including professionals, interested members of the public, and insurance companies).
    The reason this deserves more attention (and action!) is because I perceive that many healthcare professionals are reluctant to undertake on their own initiative the admittedly daunting task of sorting the wheat from the chaff with regard to what is possible, and what is advisable, and what is practical with regard to genetics-informed prevention, to diagnosis and to treatment — especially when considering that many environmental and lifestyle factors can be important for either triggering or for managing many health conditions.
    Because of the complexities and uncertainties involved, I believe that many healthcare professionals have been dragging their feet with regard to wider testing and genetic-informed management efforts — often using rationalizations like, “I must cause no harm” (with reference to well-meaning but perhaps still not well-informed advice).
    So how can this reluctance among professional be alleviated? Education is a start, but there is also the matter of “standard practices” that should be reviewed. It might be that patient self-management to “share” responsibility as part of a “partnering” effort could be helpful to patients, to give patients the opportunity to consider the emerging evidence that seems to show promise, but for which consensus has not yet been achieved.
    Finally, it would be helpful if healthcare professionals were encouraged, equipped and even incentivized to move forward with wider embracement of genetics/genomics-informed health care and PREVENTION efforts, rather than to be dis-incentivized by fear of potential professional or legal liabilities. How this can be brought about will require some concerted effort in a multi-discipline cooperative study over an extended period of time — because we’re not talking about traditionally-recognized genetic disorders alone, but also about all of the newly-recognized conditions for which genetics, epigenetics, and gene expression all interact with our environment (including nutrition and pharmaceuticals), and with our lifestyle choices too.

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Page last reviewed: September 7, 2021
Page last updated: September 7, 2021