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Pharma, Underserved Community Goals Align on African Ancestry Genomics Project


NEW YORK – An ambitious initiative to sequence the genomes of 500,000 people of African descent aims to build the largest genomics database of African ancestry to date, but doing so requires significant outreach and an approach that provides meaningful community benefits.

Meharry Medical College, a historically Black institute, and its pharmaceutical partners Regeneron Genetics Center, AstraZeneca, Novo Nordisk, and Roche think they can achieve this goal through broad community engagement, minority educational opportunities and training in STEM fields, and by helping to cover the medical expenses of uninsured individuals who discover actionable genetic variants through their participation in the project.

The project, called Changing Healthcare for People of African Ancestry through an InterNational Genomics & Equity or the Together for CHANGE initiative, is funded by $20 million investments from each of the four pharmaceutical partners.

Meharry is to play a key role in enabling the project's recruitment goals. "We are one of the trusted organizations among African Americans, not just in Tennessee, but around the country," said James Hildreth Sr., president and CEO of Meharry.

Hildreth said that the medical school has some 4,000 alumni around the country and will engage as many of them as possible to make Together for CHANGE known to their patients. Meharry will also engage churches and other community organizations in its recruitment effort.

"The main thing we're focusing on is the mistrust and distrust that minorities have had for medical research over the years," Hildreth said, noting that Meharry worked especially hard to convince minorities to accept COVID-19 vaccinations throughout the pandemic.

Distrust for medical research runs deep in many minority communities in the US and often for good reason, reinforcing inequities that exist at all levels of biomedical research.

A study conducted by Harvard University researchers in 2018, for instance, revealed that despite making up approximately 13 percent of the US population, African American patients accounted for nearly one-third of participants in "exception from informed consent" trials. In those types of trials, therapies are tested on people who are incapacitated by life-threatening conditions and need immediate treatment. That study noted that the experimental interventions being tested on these patients only proved beneficial in about 8 percent of the trials, while many carried adverse side effects and conferred a higher risk of dying.

At the same time, African Americans represent only a fraction of participants in most informed consent drug trials and genome-wide association studies, effectively getting excluded from cutting-edge research that could lead to new therapies.

Hildreth thinks that Meharry can prove a powerful force in bringing African Americans into medical research and making that research work for them and their communities.

"Because of our track record as an organization, we're going to have an easier time enrolling patients compared to some other organizations that are trying to do this," he said.

Participants' genomic data will be held in a database managed by the recently formed Diaspora Human Genetics Institute (DHGI), a nonprofit established by several historically Black colleges and universities (HBCUs) and led by Meharry. DHGI also serves as the governing body for Together for CHANGE.

If the initiative succeeds in recruiting 500,000 individuals, it promises to be the largest genomic database of African ancestry individuals to date.

"We're trying to set up a model where these HBCUs become centers of excellence and of African ancestry genome research," said Lyndon Mitnaul, senior director in the Regeneron Genetics Center.

Although genomic data from Together for CHANGE will initially be restricted to investigators at HBCUs and the initiative's partners in Africa, it may be made available to others based on the discretion of the DHGI's advisory committee.

"That committee," Hildreth said, "is going to have representation from the pharma companies, the HBCUs, and we're going to hire a very senior leader for the institute. Collectively, they will be making those kinds of decisions."

While the pharmaceutical partners in Together for CHANGE will want to use the genetic information gathered throughout the initiative to develop future drugs, they do not have specific therapeutic targets in mind. Rather, they hope that uncovering new gene variants will provide greater insights on the biology underlying many disorders.

"We might be able to garner some new insights about why certain drugs work in Europeans and not in people of African ancestry and vice versa," Hildreth said. "But that's not possible currently, because only a small fraction of the genomes that have been sequenced come from people of African ancestry."

That biological insight into why a drug might work better, worse, or not at all in a given population is exactly what the initiative's pharmaceutical partners hope to gain.

"There's about a million more variants per individual of African ancestry versus other ancestral groups," Mitnaul said. "You're going to identify a lot more variants, and you're going to be able to understand what those gene products are doing in biology."

A good case study, he said, is PCSK9.

Variants of this gene were discovered in Black individuals participating in the Dallas Heart Study that conferred strong protection from cardiovascular disease by keeping cholesterol levels very low. Understanding how the loss of function of PCSK9 led to lower low-density lipoprotein — sometimes referred to as "bad cholesterol" — led Regeneron to develop PCSK9 inhibitors that help manage cholesterol levels across diverse ancestry groups.

"This is taking a genetic finding in one ancestral group to where everyone can take the drug because now we understand the biology better," Mitnaul said. "We're looking for more variants that are associated with disease phenotypes, and then letting the science take us to where we need to go."

Together for CHANGE, however, goes beyond seeking to minimize the disparity between genomic data of different ancestral backgrounds.

Because researchers with the initiative may find actionable variants in participants' genetic data, Meharry and its pharmaceutical partners are establishing a fund to help participants without insurance coverage get appropriate medical care.

Part of the investments made by the pharmaceutical partners is to be set aside to help cover these costs, and Hildreth said the initiative is also seeking philanthropic contributions.

Meanwhile, the Together for CHANGE partners are also contributing to initiatives aimed at bringing more minorities into STEM fields through educational opportunities such as research and training grants and internships across the K-12 scholastic spectrum. Each company is dedicating $7.5 million of their $20 million investments to these educational programs. Additionally, Regeneron is funding the creation of a DNA learning center at Meharry.

"Students can come to the center and do hands-on experiments and attend camps," Mitnaul said. "This is run through Cold Spring Harbor [Laboratory, which is] collaborating with Meharry."

In addition to seeking to make meaningful impact in communities at home in the US, the Together for CHANGE partners are looking for global reach. Meharry and its four pharma partners are seeking collaborations with institutions in Africa to carry out the initiative's work there. Roche, for example, aims to collect data from up to 20,000 volunteers throughout Africa to complement the 500,000 samples sought by Together for CHANGE.

Hildreth noted that Meharry already has a presence in Zambia, where it has been working with the University of Zambia in the nation's capital, Lusaka, and four Zambian hospitals to reduce the rate of HIV transmission over the past four years. These same institutions will also work with the Together for CHANGE initiative.

The initiative's pharma partners are also involved in other genomics projects in Africa and beyond.

For instance, Roche and Regeneron are both helping to analyze the health and genetic information of up to 100,000 people in the recently launched Discover Me South Africa study, and Roche has partnered with the Genentech Fellowship Program to establish a grant program within the African Research Excellence Fund, a UK charity promoting medical research in Africa.

"The … fund will support emerging African scientists to become leaders in the fields of clinical pharmacology, pathology, and human genetics," Mark McCarthy, executive director for human genetics at Genentech, said via email. "Beginning in 2024, selected fellows will spend nine months at world-leading Genentech and Roche laboratories to develop and refine their research ideas, engage with a global network of mentors, and build their capacity to address prevailing health challenges across Africa."

Regeneron also recently published a study examining the genomes of 150,000 adults within Mexico City.

Meharry's Hildreth added that although it remains in the very early stages, Together for CHANGE wants to leverage what is already happening in Africa and has begun conversations with several other groups conducting other pan-African genomic studies, to explore the ways in which these various projects can work together to advance their respective goals.

"The impact of this is going to be generational," Hildreth said.