Genetic libraries should be more ethnically diverse


This is what a future visit to the doctor might look like: The patient provides a saliva sample for genetic testing and receives personalized healthcare advice based on DNA, environment, diet and lifestyle. The test doesn’t just measure an individual’s risk of developing genetic diseases; It can also predict the effectiveness of treatment.

While this may sound like science fiction, advances in genomics including falling costs for DNA sequencing have made this possible. It’s called personalized medicine, and it’s a paradigm shift in healthcare. It analyzes a patient’s unique genetic and molecular signatures, informing clinicians of disease treatments and interventions that are as unique as each person.

However, the global genetic data set lacks racial and ethnic 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 improved prescriptions, ultimately reducing healthcare costs. Precision medicine has already revolutionized cancer treatments, resulting in 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 University Medical Campus, has developed Biobank DNA samples and blood samples of patients. This initiative so far, Identified 60 patients Those with genes identified with a higher risk of developing diseases such as breast cancer, other cancers, and heart failure.

Efforts are now needed to increase the diversity of existing 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 turn, improving the accuracy of personalized medicine for everyone.

Bias in human genetic studies

Currently, about 78% of the DNA in US genetic libraries comes from individuals of European ancestry. As of 2018, Only 10% are of Asian descent and only 2% are of African descent included in the libraries.

If we do not diversify the genetic data in the library using DNA from individuals belonging to historically marginalized groups, we risk missing disease predictors for entire racial or ethnic groups and exacerbate existing inequalities in the healthcare system.

One reason for the lack of representation among disadvantaged communities is the lack of trust stemming from a long history of abuse by the healthcare system, researchers, and medical organizations. For example, in 1947 penicillin was deliberately withheld during Tuskegee Syphilis Study. resulting in the deaths of hundreds of Tuskegee men and the wounding of their families. Another example is the unapproved use of cell lines derived from A Tumor sample from Henrietta Lacks, an African American womanin medical research.

It was another growing concern Accessibility to precision medicine promises to individuals of low socioeconomic status, who may not be able to afford healthcare. Does access to personalized medicine depend on how much you can afford to pay for insurance or how close you are to the right hospital? Will personalized medicine be a luxury that few will benefit from?

way ahead

To address the lack of genetic diversity, the National Institutes of Health was created Precision medicine initiative all of us, which aims to recruit one million Americans, especially from diverse backgrounds, to add their DNA to the gene library. The program recently released its first genomic data set containing nearly 100,000 new DNA samples with nearly 50% of the data from non-underrepresented populations.

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

Going forward, attention must be given to increasing enrollment of more Hispanics, African Americans, Asians, as well as Indigenous biobanks.

For these efforts to be effective, A statewide initiative must be created by the Colorado government. This precision medicine initiative must engage multiple stakeholders including regulatory agencies, medical insurance providers, physicians, and community partners.

It should be based on the principles of diversity, equity and inclusion:

  1. Collaborate and build trust with underrepresented communities.
  2. Addressing exploitation, data privacy and security concerns is central 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. Stimulate participation and provide means such as transportation and Internet access.
  4. Develop a diverse genomic research workforce.

I hope all future visits to the doctor will look like former President Barack Obama imagined them when he was The Precision Medicine Initiative was launched in 2015:

You can match transfusions to blood type – this was an important discovery. What if matching a cancer treatment to our genetic code could be just as easy as a standard? What if figuring out the right dose of medication was as simple as taking our temperature? “


Ankita Arora lives in Thornton. I wrote this column as part of an advocacy training program for the American Society of Biochemistry and Molecular Biology. The opinions expressed in this article are her own.


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