My mother died of breast cancer when I was 17. She was only 50. At the time of her death and forever forward, the comment repeated most often from family and friends, was: “You’ll need to be vigilant for the rest of your life because it may be hereditary.”
Not the most comforting thought for a teenager, but it was necessary, because in the late 70s, we knew much less about cancer and little at all about hereditary genes. That was long before the human genome was identified or genetic testing existed. All I had to go on was that no other family member we knew of had breast cancer. I did proceed to get mammograms and additional testing long before any of my peers and continue to do so.
In 1994, the first ever breast cancer gene (BRCA 1) testing arrived. I jumped right to it and tested negative. Nearly 30 years later, I just completed testing for the multitude of hereditary genes for breast, ovarian, colon cancers and many more that now exist. Results were also negative. I’m thankful for the science that has given me these insights, preventive screenings and improved treatments. Good for me, but is it good for everyone?
Here’s the catch. Research on so many things, including genetic disease, has been based mostly on people of European descent, like me. The mapping of the human genome was based on an overwhelmingly white population (approximately 87% are based on people of European descent).
The problem is that we have little to no idea how new treatments might work for people of other races. If we diversify science and volunteers in clinical trials, we can realize the promise of personalized medicine for everyone, not just white patients. If we could include all races, ethnicities and genders in research, we may discover that what I need to take for the same condition may be different for someone else. Or it might be the same — we simply don’t know. What we do know is that humans of all races and backgrounds are about 99.9% genetically identical, and the 0.1% may hold the answer to why some people are more likely to experience illnesses and others are not.
We have work to do. One example: Only 5% of participants in research studies are people of African ancestry, and we know that people of color suffer at higher rates than others for many diseases such as Alzheimer’s, some cancers and heart conditions.
There is no denying that lingering mistrust in the medical system and research is part of the reason the Black community may choose not to participate in trials. These stem from both the horrific historic abuse to Black patients in clinical research and the bias and discrimination they encounter in health care settings still. And there are other issues, like inequitable environmental factors and access to and high costs for good care.
Bottom line: Making sure research is equitable is one solution.
Recently the Lieber Institute for Brain Development received $1 million from the Chan Zuckerberg Institute (CZI) to support the African Ancestry Neuroscience Research Initiative — which partners with groups in the Baltimore community and the historically Black university, Morgan State, to promote racial equity in biomedical research, hopefully resulting in new, precision treatments for Black patients.
On the federal level, the U.S. Food and Drug Administration will soon require researchers to deliver a plan for diversity among clinical trials to be approved to proceed. And The National Institutes of Health’s program “All of Us,” created under President Obama’s Precision Medicine Initiative, hopes to collect DNA data from 1 million volunteers of all ages, races, sexual identities, and income and education levels in hopes to get a more accurate set of data about the overall population.
Not only do we need more diverse populations participating in research, but we also need diversity among biomedical researchers and medical practitioners to lead these efforts. That makes research stronger and builds trust with diverse communities who see themselves and feel the research is more relevant to their lives. The team at ChristianaCare Gene Editing Institute is working on this now. They are building a diverse next generation of gene editing researchers by teaching Black and brown high school and community college students about promising technologies like gene editing to encourage them to become future researchers. This sort of educational outreach can also help to build trust in the medical and research communities. The institute’s director, Eric Kmiec, PhD, has been outspoken about the current inequities of delivering new technologies to all people at a fair cost.
Scientists and medical leaders are impatient to change the trajectory so that everyone can benefit from research. I’m proud to work with some of the institutions who are making this change. While science wasn’t yet far enough along to save my mother, I have reaped the benefits of advanced research — and so should we all.