AI and Genome Sequencing
Data informs everything, even how our health and diseases will be treated in the future. But if our community is not actively involved in the research, the likelihood of drugs and treatments not working as well for us could continue to be a reality. It’s not surprising that talk about research is met with skepticism by many Black people; the Tuskeegee experiment and other medical crimes loom large in our minds. However, an ambitious partnership between an HBCU, Meharry Medical College, and a group of pharmaceutical companies—Regeneron, AstraZeneca, Novo Nordisk, and Roche—called Together for CHANGE holds promise for us. “Changing Healthcare for People of African Ancestry through an InterNational Genomics and Equity” is the mission.
Through this project, they seek to build the first-ever reference genome of 500,000 people of African ancestry and provide resources for underrepresented students to pursue STEM careers.
 Why is this important?
James E. K. Hildreth, MD, Ph.D., President and CEO of Meharry Medical College, explains that breakthroughs in gene sequencing are the key. A genome is a complete set of genetic material in a cell or organism. “The basis for diseases and interventions for diseases will be based on what we learn from the genome,” he explains.
Here’s the backstory. It took a decade to sequence the first genome in 2003, cost $2 billion, and involved 2,000 scientists. With artificial intelligence (AI) in the mix, it can be accomplished in a matter of hours for $1,000. “Thousands of genomes have now been sequenced, but only 1 in 100 come from people with African ancestry,” Dr. Hildreth explains. “We have large datasets (from the sequencing) to which we can apply AI and data science tools to find new drugs and interventions. If we are not represented in the data, we will not benefit from these powerful new tools.”
 as we move forward to some exciting times in medicine, the goal is that all of us benefit from the new insights, not just white people.
Dr. Hildreth explained that there is now a considerable effort to get us to participate in clinical trials because the scientific community learned that while some drugs work well for patients of European ancestry, they don’t work for us at all. But they didn’t know this because we hadn’t participated in the trials. “The same thing could happen with the use of genomic data if we are not included,” he says.
Lyndon J. Mitnaul, Ph.D., Executive Director of Research Initiatives at Regeneron Genetics Center, one of the pharmaceutical partners in this project, has spent the last decade at his company working on genomic research. “We knew there’s a lack of knowledge of African ancestry genomic information in the databases we’re studying. And we also knew that there is a lack of Black professionals in STEM careers,’ he says. During the social justice movement that resulted from the death of George Floyd, Regeneron wanted to make a substantive difference instead of doing something performative. They decided to incorporate their specialization, their genetic research machine. “We built the skillset and the capacity to sequence. Why don’t we apply that knowledge to the Black community to train more scientists and build a data depository where these scientists can study to help establish their careers and, at the same time, address health disparities within their community?” Dr. Mintaul explains.
Because of the historic issues between our community and inequitable practices, the companies involved have designed this initiative with some built-in protections. The pharmaceutical companies won’t be directly involved. Instead, the governing body will be a new nonprofit called the Diaspora Human Genomics Institute (DHGI). The data collected will be secured and managed by DHGI to ensure the integrity and transparency of all activities undertaken under this initiative.
All the data will be scrubbed of identifying information, so not even DHGI will know whose data they have. They also instituted an ethics committee, which Dr. Rueben C. Warren, a respected expert in Bioethics from Tuskegee University, leads.
The HBCU Connection
One of the things that is exciting about this initiative is the connection to Meharry Medical College. One of the oldest and largest historically Black academic health science centers in the country was chosen as the academic convener of this project. And its students will be integral to this project. We will be generating scientists, physicians, and genetic counselors from minority communities,” Hildreth points out. “They will be at the table, in the rooms, when discoveries and breakthroughs occur. We’re also starting the first human genetic counseling at an HBCU.”
Currently, less than 5% of researchers are Black. Dr. Hildreth points out that the normal progression to becoming a researcher is obtaining an undergraduate degree, graduate school, and a Ph.D.; you become a postdoctoral fellow and rise to become a faculty member. For white students, there is no drop-off between those steps. In minority communities, we start pursuing undergraduate degrees. However, fewer of us get graduate degrees, and fewer still get to become postdoctoral fellows and faculty members because there is a drop-off in our pipeline. One of the ways they plan to counter that is to engage students early on in K-12 to make science less intimidating.
The plan includes giving students and scientists from all 107 HBCUs an opportunity to do genomic research.
Dr. Mitnaul adds that a grant for a DNA Learning Center on the school’s campus is also included. “We’re doing this because we see an opportunity to make a difference. And, at the same time, advance science by creating more diversity in genetics.”
How Can This Help Black Folks in the Future?
One of the things that Dr. Hildreth is looking forward to is collaborating with scientists in Africa. “There are going to be people in Africa who have very similar gene genomes to African Americans in the United States. This will allow us to study the influence of environment, diet, and other factors on our health,” he says. Through this assessment, they will see the difference in the susceptibility to disease and isolate the differentiators.
Dr. Mitnaul hopes that the safeguards they have put in place will help counter the existing mistrust. “If we don’t change that, we are the ones who will get hurt. What if a BRCA mutation is different from the one we know about now?” he asks. That kind of research could be vital to understanding why Black women are diagnosed more often with triple-negative breast cancer, for example.
But what excites Dr. Hildrath most is the possibility of changing the narrative regarding the Black community’s access to technology that could improve our health and the quality of our lives. “Every time there is a technological leap forward, we are on the outside looking in,” he says.
“Artificial intelligence and its potential to do harm or good overshadows anything that has come before it. We want to ensure that when AI is applied to genomics, it will allow us to answer questions we’ve never been able to. “
He uses sickle cell anemia as an example. A single mutation causes it. However, other diseases have multiple mutations, and because the genome is so large, human brainpower alone wouldn’t be able to tackle it, but machine learning is a game-changer.
Dr. Hildrath says, “I want to make sure we are part of both the data and the people researching the data, particularly regarding AI. Because when humans are involved in anything, consciously or unconsciously, bias can enter it.”
