Unequal Access to Genetic Testing and Follow-up Care
Creators: name: Neuhaus, Carolyn
Publisher: name: Center for ELSI Resources and Analysis
Year: 2024
Subjects: subject: Genetics
subject: FOS: Biological sciences
subject: FOS: Biological sciences
subject: Ethics
subject: Science
subject: ELSI
subject: return of results
subject: medically underserved
subject: genetic testing
subject: precision medicine

description: The integration of genetics into clinical practice offers the potential to revolutionize healthcare through personalized medicine. Yet, it also risks exacerbating existing health disparities if steps are not taken to provide access to genetic testing and follow-up care for medically underserved populations which may include racial and ethnic minorities, under- and uninsured individuals, unhoused persons, low-income families, rural communities, and people with disabilities, among other marginalized groups. Individuals with membership in one or more of these population groups face economic, social, language, transportation, and other barriers to healthcare and health inequities stemming from social, economic, and political inequalities. Significant progress has been made on our goal to increase the ancestral diversity of genetics research participants, which is crucial for linking genotypes to phenotypes across populations. Efforts funded by the National Institutes of Health like the All of Us Research Program and Clinical Sequencing Evidence-Generating Research (CSER) Consortium have emphasized recruitment of low-income, diverse participants to address their underrepresentation in biomedical research, diversify the genetic and genomic research evidence base, and ultimately, make available more informative and accurate genetic tests for underserved groups. Nonetheless, high costs, variable insurance coverage, insufficient provider knowledge about genetics, and a shortage of genetic counselors continue to impede full access to genetic testing. Medically underserved populations often experience some level of food insecurity, housing insecurity, and financial strain—pursuing diagnostic tests may not be a top priority. Racial disparities in uptake of genetic testing for hereditary breast and ovarian cancers persist, despite available and covered genetic tests for at-risk individuals. For medically underserved patients who do access genetic testing and receive actionable results—whether through return of results to research participants, population screening, or clinically-indicated testing—similar factors get in the way of their pursuit of recommended follow-up: cost, complexity in navigating healthcare systems, unavailability of specialists, distance to diagnostic and specialist care, prioritization of more pressing needs, and previous experiences of racism, ableism, and disrespect from medical personnel and institutions, among other barriers. These barriers limit the ability of patients with an actionable genetic test result to realize the health benefits of advances in genetics and genomics and obstruct the achievement of population-level health benefits one patient at a time. The readings in this collection explore how barriers to healthcare access and social, economic, and political inequality in society affect the rollout of genetic medicine for adult patients and consider what adopting a commitment to justice and equity might entail. The materials in the first section raise concerns about how barriers to healthcare generally also pose barriers to genetic testing, counseling, and follow-up. They also note some additional barriers to accessing genetics services, including patient misunderstanding and uncertain insurance coverage for novel genetic tests. The second section discusses challenges associated with the return of genetic research results to diverse, medically underserved populations, including uninsured individuals, and explores the interaction of this practice with the pursuit of justice and equity within the research enterprise. The third section focuses on challenges to integrating genetic testing into primary care in the United States, particularly at federally qualified health centers (FQHCs) which receive direct federal funding and other financial supports to provide comprehensive primary care to medically underserved populations. Over 31 million people in America sought care at FQHCs in 2023 and they will likely play a significant role in the equitable advancement of genetics in the United States. The readings examine access to genetic testing, services, and specialist care for these patients and discuss programs aimed at improving uptake. The final section argues that advancements in genetics alone cannot address the root causes of inequality and health inequities in America. A commitment to justice and health equity requires addressing upstream causes of barriers to genetic testing, counseling, and follow-up care, and advocating for healthcare, social, and economic reform alongside technological advancement. There is good reason to be excited about our investments in genetics, genomics, and precision medicine and the advances that are possible. Enabling full access to these technologies will require that our investments extend toward primary care improvements and innovation as well as policy developments in the areas of insurance, housing, food, education, and corporate oversight.