Here’s what a future doctor’s visit might look like: The patient provides a saliva sample for genetic testing and receives personalized health advice based on their DNA, environment, diet and lifestyle. The test not only measures individual risk of hereditary diseases; it can also predict the effectiveness of a treatment.
While this may seem like science fiction, advances in genomics, including lower 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 characteristics and informs clinicians about treatments and disease interventions that are 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 prescriptions, ultimately 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 collaboration between UCHealth and University of Colorado – Anschutz Medical Campus, has a Biobank of DNA and blood samples from patients. This initiative has so far identified 60 patients who have genes that have been found to put them at a higher risk 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, we improve the accuracy of personalized medicine for everyone.
The bias in human genetic studies
Currently, about 78% of the DNA in the US genetic libraries comes from individuals of European descent. As of 2018, only 10% people of Asian descent and only 2% people of African descent 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 risk missing disease predictors for entire racial or ethnic groups and further exacerbate current inequalities in the health care system.
One of the reasons for the lack of representation among disadvantaged communities is the mistrust that stems 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. leading to the deaths of hundreds of Tuskegee men and the infection of their families. Another example is the unauthorized use of the 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 individuals of low socioeconomic status, which the health care system may not be able to afford. Would access to personalized medicine depend on how much money you can pay for insurance or how close you live to the right hospital? Could personalized medicine be a luxury few can take advantage of?
The road ahead
To address the lack of genetic diversity, the National Institutes of Health have been established the All of Us Precision Medicine initiative, which aims to recruit 1 million Americans, especially those of 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 the data coming from an underrepresented population.
In Colorado, the Colorado Center for Personalized Medicine Biobank has signed up 200,673 participants, and these individuals are 85% White, ~10% Hispanic, and 5% African American. While this distribution of ethnicities is consistent with national standards, it does not fully represent Colorado’s diversity. Hispanics and African Americans together represent 31.1% of Colorado’s population.
In the future, consideration should be given to increasing Biobank registration of more Hispanic, African American and Asian individuals, as well as those of Indigenous populations.
For these efforts to be effective, there needs to be a statewide initiative from the Colorado government. This Precision Medicine initiative should involve multiple stakeholders, including regulatory agencies, health insurers, physicians and local community partners.
And it should be based on the principles of diversity, equity and inclusion:
- Collaborate and build trust with underrepresented communities.
- Addressing concerns about exploitation, data privacy and security is crucial to ensuring informed consent. It is explained to the participants what happens to their data, who has access to it and how it is stored.
- Encourage participation and provide resources such as transportation and internet access.
- Developing a diverse workforce for genomic research.
I hope all future visits to a doctor will be like what former President Barack Obama envisioned back then launched the Precision Medicine Initiative in 2015:
“You can link a blood transfusion to a blood group – that was an important discovery. What if linking a cancer drug to our genetic code was just as easy, just as standard? What if figuring out the right dose of medicine was as easy 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.