Genetic libraries need to be more racially diverse


This is what a future visit to a physician might look like: the patient provides a saliva sample for genetic testing and receives personalized healthcare advice based on their DNA, environment, diet, and lifestyle. The test not only measures the individual’s risk of inheritable diseases; it can also predict the efficacy of a treatment.

While this might seem like science fiction, advances in genomics including reduced costs of DNA sequencing have made this possible. It’s called personalized medicine, and it’s a paradigm shift in healthcare. It analyzes the patient’s unique genetic and molecular signatures, and informs clinicians on treatments and disease interventions as unique as each person.

However, the global genetic dataset lacks ethnic and racial diversity. This undercuts the efficacy of this technology for everyone.

The promise of personalized medicine

Personalized medicine will lead to earlier diagnosis, more informed prevention strategies, and optimized prescriptions, ultimately reducing health care costs. Precision medicine has already revolutionized cancer treatments, leading to the development of 27 new FDA-approved drugs for use in personalized cancer treatment “cocktails” that attack each cancer unique to its DNA.

In Colorado, The Colorado Center for Personalized Medicine, a partnership between UCHealth and University of Colorado – Anschutz Medical Campus, has developed a Biobank of patients’ DNA and blood samples. This initiative has, so far, identified 60 patients who have genes identified with higher risks of diseases such as breast and other cancers, and heart failure.

Efforts are now needed to increase the diversity of current genetic libraries. This will help us understand why many diseases, such as heart disease and cancer, affect racial and ethnic groups in different ways —in return, improving the accuracy of personalized medicine for all.

The bias in human genetic studies

Currently, about 78% of the DNA in U.S. genetic libraries comes from individuals of European descent. As of 2018, only 10% people from Asian origin and a mere 2% people from African origin are included in the libraries.

If we do not diversify the genetic data in the library with DNA from individuals belonging to historically marginalized populations, we run the risk of missing disease predictors for entire racial or ethnic groups and further exacerbating current inequities in the healthcare system.

One of the reasons for the lack of representation among underserved communities is the mistrust borne out of a long history of being mistreated by the health care system, researchers, and medical organizations. For example, In 1947 Penicillin was deliberately withheld during the Tuskegee Syphilis Study. which led to the death of hundreds of Tuskegee men and the infection of their families. Another example is the non-consented use of the cell lines derived from a tumor sample from Henrietta Lacks, an African American woman, in medical research.

Another growing concern has been the accessibility of promises of precision medicine to individuals with low socioeconomic status, who might not be able to afford the health care. Would access to personalized medicine depend on the money you can pay for insurance or how close do you live to the right hospital? Would personalized medicine be a luxury that only few could benefit from?

The road ahead

To address the lack of genetic diversity, the National Institutes of Health created the All of Us Precision Medicine Initiative, which aims to recruit 1 million Americans, especially those from diverse backgrounds, to add their DNA to the genetic library. The program recently released the first genomic dataset containing nearly 100,000 new DNA samples with ~50% of data coming underrepresented population.

In Colorado, the Colorado Center for Personalized Medicine Biobank has enrolled 200,673 participants, and these individuals are 85% white, ~10% Hispanic and 5% African American. While this distribution of ethnicities is on par with national standards, it does not fully represent Colorado’s diversity. Hispanics and African Americans together represent 31.1% of Colorado’s population.

Moving forward, attention needs to be given to increasing Biobank enrollment of more Hispanic, African Americans, and Asian individuals, as well as those from indigenous populations.

For these efforts to be effective, a statewide initiative by the Colorado government must be established. This Precision Medicine initiative must engage multiple stakeholders including regulatory agencies, medical insurance providers, physicians and local community partners.

And it must be a grounded in diversity, equity, and inclusion principles: 

  1. Collaborating and building trust with underrepresented communities.
  2. Addressing concerns of exploitation, data privacy, and security is pivotal to ensure informed consent. This includes explaining to participants what happens to their data, who will have access to it and how will it be stored.
  3. Incentivize participation and provide means such as transportation and internet access.
  4. Developing a diverse genomic research workforce.

I hope all future visits to a doctor might look like what former President Barack Obama imagined when he launched the Precision Medicine Initiative in 2015:

“You can match a blood transfusion to a blood type — that was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard? What if figuring out the right dose of medicine was as simple as taking our temperature?”


Ankita Arora lives in Thornton. She wrote this column as part of the American Society for Biochemistry and Molecular Biology Advocacy Training Program. The views expressed in this essay are hers alone.



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