Genetic libraries must be more racially diverse

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

While this may sound like science fiction, advances in genomics, including the reduced costs of DNA sequencing, have made it possible. It’s called personalized medicine and it’s a paradigm shift in health care. Analyzes a patient’s unique genetic and molecular signatures and informs clinicians about treatments and interventions for diseases as unique as each person.

However, the global genetic data set lacks ethnic and racial diversity. This undermines the effectiveness of this technology for everyone.

The promise of personalized medicine

Personalized medicine will lead to earlier diagnosis, more informed prevention strategies, and optimized prescribing, ultimately lowering healthcare 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 uniquely target each cancer in its DNA.

In Colorado, the Colorado Center for Personalized Medicine, a partnership between UCHealth and the University of Colorado – Anschutz Medical Campus, has developed a biobank DNA and blood samples from patients. This initiative has, so far, identified 60 patients who have genes identified with an increased risk of diseases such as breast and other cancers, and heart failure.

Efforts are now needed to increase the diversity of current gene 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, it will improve the precision of personalized medicine for all.

Bias in human genetic studies

Currently, about 78% of the DNA in US genetic libraries comes from people of European descent. As of 2018, only 10% of people of Asian origin and only 2% of people of 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 underserved populations, we risk missing disease predictors for entire racial or ethnic groups and further exacerbating current inequities in the health care system.

One reason for the lack of representation among underserved communities is mistrust stemming from a long history of mistreatment by the health care system, researchers, and medical organizations. For example, in 1947 penicillin was deliberately withheld during the Tuskegee Syphilis Study. resulting in the deaths of hundreds of Tuskegee men and the infection of their families. Another example is the unauthorized use of cell lines derived from a tumor sample from Henrietta Lacks, an African-American womanin medical research.

Another growing concern has been the accessibility of precision medicine promises to people of low socioeconomic status, who may not be able to pay for medical care. Would access to personalized medicine depend on how much money you can pay for insurance or how close you live to the right hospital? Would personalized medicine be a luxury that only a 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 of diverse origins, 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 the data coming from an underrepresented population.

In Colorado, the Colorado Center for Individualized 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. Hispanic and African American together make up 31.1% of Colorado’s population.

Moving forward, attention should be paid to increasing enrollment in the Biobank of more Hispanic, African American, and Asian people, as well as indigenous populations.

For these efforts to be effective, a state initiative should be established by the Colorado government. This Precision Medicine initiative should involve multiple stakeholders, including regulatory agencies, health insurance providers, physicians, and local community partners.

And it must be based on principles of diversity, equity and inclusion:

  1. Collaborate and build trust with underrepresented communities.
  2. Addressing concerns of exploitation, data privacy, and security is critical to ensuring informed consent. This includes explaining to participants what happens to their data, who will have access to it, and how it will be stored.
  3. Encourage participation and provide means such as transportation and internet access.
  4. Develop a diverse genomics research workforce.

I hope all future visits to a doctor look like what former President Barack Obama envisioned 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 correct dose of medication was as simple as taking our temperature?


Ankita Arora lives in Thornton. She wrote this column as part of the American Society for Biochemical and Molecular Biology Advocacy Training Program. The opinions expressed in this essay are his own.

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