Opinion: To realize the promise of DNA-based medicine, genetic libraries need to be more diverse

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

Although it may sound like science fiction, advances in genomics, including the reduction in DNA sequencing costs, have made it 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 about disease treatments and interventions as unique as each person.

However, the global genetic dataset 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 prescriptions, thereby reducing 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 attack each cancer unique to 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 of patient DNA and blood samples. This initiative has so far identified 60 patients who have genes identified with higher risks for diseases such as breast cancer 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, improving the accuracy of personalized medicine for all.

Bias in Human Genetic Studies

Currently, approximately 78% of the DNA in US genetic libraries comes from individuals of European descent. In 2018, only 10% of people of Asian descent and barely 2% of people of African descent are included in libraries.

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

One of the reasons for the lack of representation among underserved communities is mistrust born of a long history of abuse by the health system, researchers and medical organizations. For example, in 1947 penicillin was deliberately withheld during the Tuskegee syphilis study. which led to the deaths of hundreds of Tuskegee men and the infection of their families. Another example is the non-consensual use of cell lines derived from a tumor sample from Henrietta Lacks, an African-American woman, in medical research.

Another growing concern is the accessibility of precision medicine promises to people of low socioeconomic status, who may not be able to afford health care. Would access to personalized medicine depend on how much money you can pay for insurance or how far do you live from the right hospital? Is personalized medicine a luxury that 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 about 50% of the data coming from an underrepresented population.

In Colorado, the Colorado Center for Personalized Medicine Biobank enrolled 200,673 participants, and those people are 85% white, about 10% Hispanic, and 5% African American. While this ethnicity breakdown is on par with national standards, it does not fully represent Colorado’s diversity. Hispanics and African Americans together make up 31.1% of Colorado’s population.

Going forward, particular attention should be given to increasing biobank enrollment of more Hispanic, African American, and Asian individuals, as well as Indigenous populations.

For these efforts to be effective, a statewide initiative by the Colorado government is to be established. This precision medicine initiative must involve multiple stakeholders, including regulatory bodies, medical insurance providers, physicians, and local community partners.

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

1. Collaborate and build trust with underrepresented communities.
2. Addressing operational, data privacy, and security concerns is key 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 facilities such as transportation and internet access.
4. Develop a diverse workforce in genomics research.

I hope all future visits to a doctor will be 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 cure for cancer to our genetic code was just as simple, just as standard? What if finding the right dose of medicine was as simple as taking our temperature?”

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