In summer 2020, some clinical genetic testing companies were motivated by the glaring racial, social, and medical unrest and inequities to lend their support for Black and Brown communities. Businesses took a stance with public statements, open letters, commitments, and in-kind donations. However, their science has not followed suit. As a result, health equity is yet achieved. Without action, words do not and cannot count as progress towards health equity, inclusion, and justice. These words must be backed with continuous and collective action and improvements in science.
As a Black genetic counselor and health equity scientist, I have grown disenchanted with my own industry as clinical genetic testing advancements continuously leave communities of color behind. Often, genetic testing developments do not benefit people who look like me upon release, if ever. Nevertheless, everyone pays the same price for the same product, with different outcomes in value and quality. This must stop. It is time to reimagine genetic testing with health equity and just outcomes for all in mind. This is how:
Reimagine Genetic Data to Be Inclusive of Diverse Populations
The trove of genetic information that has been gathered to date is used to fuel subsequent clinical genetic and scientific advancements. This is problematic because the data used to guide and improve most genetic tests primarily comes from studies where participants are white. By failing to identify genetic associations in diverse populations, this limits the ability to illuminate new discoveries that inform risk management and treatment, especially for populations that are disproportionately underserved by medicine.
Polygenic risk scores (PRSs), which use findings from genome-wide association studies (GWASs) as a preliminary step, illustrate this phenomenon. While PRSs are not new technologies, they have become more widespread and commonplace in research, industry, and clinical settings. The multitude of PRSs available are for diseases that disproportionately impact populations underrepresented in research, such as heart disease, diabetes, and cancer. Yet, the lion’s share of data used to derive the PRSs are not proportionately reflective of these same populations. One way forward is to actively engage and consult underrepresented communities along the research continuum. Do not expect passive recruitment and enrollment of these communities as participants to be enough. Establish strategic partnerships with organizations and advisory councils that represent and serve the communities that are disproportionately affected by the diseases impacted by your products. Ultimately, these actions may translate into lives saved.
Reimagine Genetic Testing Mechanisms That Reduce and Eliminate Disparities
When looking at genetic tests that were created more than 2 decades ago, we still see that minority populations have yet to experience benefits on par with their counterparts of European ancestry. Despite the reduced probability that someone from an underrepresented population will receive a clinically informative result, patients who meet criteria for genetic testing are required to pay the same premium. For example, a test that could potentially identify if a patient carries a BRCA1 or BRCA2 pathogenic variant (mutation) that increases their risk for various cancers will cost the same for every patient, despite variations in the likelihood of receiving useful results. In some instances, the knowledge of one’s carrier status for a hereditary cancer predisposition may save lives. But, can we say this option has been granted equitably to all populations? We need to analyze real-world data to better understand inequities in genetic testing access and outcomes. Evidence-based findings can lead to the establishment of more inclusive and precise genetic testing guidelines.
Reimagine a New Scientific Formula for Genetic Testing
The current approach to clinical genetic testing is faulty. It doesn’t benefit the majority of the world’s population, which is of non-European ancestry. It’s the same plug-and-play application: develop and validate in European, non-Hispanic populations first, then use that same model in those of diverse backgrounds. The reality is that little to no resources are invested in efforts to improve the current tools and adapt them to the specific needs of non-Europeans. Stop building upon the European prototype and assuming it will work in ancestrally diverse and non-European populations. Invest in building inclusive models that allow us to actualize and optimize the promise that precision medicine has to offer.
Reimagine Getting It Right
Advancements in genetic testing have left people of color behind, but we have opportunities to take steps in the right direction. Clinical genetic testing companies have a shared responsibility to eliminate disparities and take an approach rooted in health equity. Many have started down a better path.
The Ambry was opened to address the devastating effects of racism — in its conscious or unconscious forms — on scientific progress. Ambry discontinued its AmbryScore (breast and prostate) PRS until pan-ethnic benefit can be derived equitably from the product and until the resource is integrated into clinical management guidelines. Hopefully, this will lead to an industry-wide domino effect and the first of many necessary steps to advance modern day genetics practices, policies, and products in an equitable direction. Genetic testing companies should collaborate in innovative and nontraditional approaches to amass a pan-ethnic clinical genetics real-world database. This novel database may guide the development, evolution, and generalizability of PRSs for all populations. Open collaboration may also yield opportunities for genetic testing companies to partner in clinical trials and generate robust, reliable, and representative evidence necessary to inform the revision of national guidelines that can equitably benefit all populations. This may require companies to deprioritize profits and incentives, but may spur equity in subsequent genetic advancements. Eliminating disparities may result in more genetic diagnoses and answers for broader populations. Consequently, it could make genetics products more accessible, accurate, useful, and precise than ever.
Here are just a few steps that affirm, with science and action, that Black and Brown lives really matter: Invest the resources and time in training scientists and clinicians to think with health equity in mind across the genetics continuum. This requires the scientific workforce to engage in unconscious bias training and simulations to better understand how biases influence scientific methodologies and outcomes. Hire health disparities scientists, clinicians, and chief health equity officers, and make health equity an integral component of all business functions. Take the steps necessary to offer all populations an opportunity to receive accurate genetic information that guides their medical decisions and management. Actively broaden your reach and partner with patients and populations that experience barriers in accessing genetic services and resources. Host company- and professional society-sponsored continuing education webinars on the topic of inequities in clinical genetics, and grant all genetics professionals an equitable opportunity to obtain continuing education credits for the content. This sends the message that the genetics community equally values health disparities content as much as other educational topics.
This passion is personal and inspires me to get into “good trouble, necessary trouble,” and potentially life-saving trouble. My ability to access accurate and useful disease risk information and personalize healthcare options is at risk. As a collective genetics community, it’s time we all get into necessary trouble and take action to include and expand the utility and value of our genomic knowledge to populations that are underserved by medicine — a feat that would certainly and ultimately benefit All of Us.
Altovise Ewing, PhD, LCGC, is a clinician-scientist with more than 10 years of genetic counseling and health disparities research experience, and is currently a full-time employee at Roche Genentech.
Ewing has attended continuing education events sponsored by Ambry Genetics, GeneDx, Invitae, and Myriad Genetics, and is a former employee at 23andMe and holds stock options in the company.