Health Equity in the Implementation of Genomics and Precision Medicine: A Public Health Imperative
Authors: Khoury Muin J. , Bowen Scott , Dotson W. David , Drzymalla Emily , Green Ridgely F. , Goldstein Robert , Kolor Katherine , Liburd Leandris C. , Sperling Laurence S. , Bunnell Rebecca 
Published: March 2023

A long-term primary goal of public health is health equity (everyone having the opportunity to be as healthy as possible). There is intensified interest in public health to address health outcome disparities, which can affect length and quality of life, rates of disease, severity of disease, and access to treatments. In genomic medicine, health equity is defined as “the global applicability of genomic knowledge, fair and even access to genomic services such as testing and counseling, and unbiased implementation of genomic medicine.” The overall goal is to improve our understanding of interactions between social, biological, and environmental factors involved in disease occurrence.

Health equity agendas beyond basic clinical research are necessary for ensuring improved health outcomes in every population segment. This includes implementation of so called “tier 1” genomic applications (Clin Pharmacol Ther 2014;95(4):394–402), that is, those supported by a strong evidence base, for reducing morbidity and mortality of various diseases, as well as for the improvement of health outcomes. Tier 1 genomic applications can potentially reduce morbidity and mortality for millions of people and include applications such as newborn screening and testing for Lynch syndrome, hereditary hemochromatosis, hereditary breast and ovarian cancer, familial hypercholesterolemia (FH), and hypertrophic cardiomyopathy.

Implementation disparities have been reported for 3 genetic disorders in particular that are included in tier 1 guidelines—FH, Lynch syndrome, and hereditary breast and ovarian cancer. Although implementation is relatively low across the entire population, groups particularly affected by suboptimal implementation include racial and ethnic minority groups, rural communities, women, the underinsured or uninsured, and patients with lower income and education. One of the groups most prominently affected by suboptimal implementation includes Black women, who are less likely to discuss genetic testing with health care providers than their non-Hispanic White peers. A lack of testing may affect preventive care, meaning both individuals and families may not access such care. Implementation of precision medicine applications and evidence-based genomics is highly dependent on access to health care.

To overcome such shortcomings and discrepancies in the health care system within the United States, inequities must be addressed and acknowledged. The failure to optimally integrate genomics into the assessment of current public health practice hinders the ability for improvement in this area. Many benefits are available from the integration of genomics into health care, such as population-based cancer registries that can assist in the identification of risk factors, survival patterns, treatment responses, and recurrences. Heterogeneous subgroups with similar risk factors can potentially be more accurately classified based on molecular markers, such as gene expression profiles.

Ultimately, as an emerging field, genomics and precision medicine have the opportunity to fully integrate principles of health equity early on before disparities become deeply entrenched, as has already occurred in other, more established fields. As the pandemic demonstrated differential effects on various population subgroups, the achievement of health equity when considering implementation of genomics and precision medicine is likewise increasingly important as the potential benefits of this approach continue to grow.