New Guidance Published on Addressing Underrepresentation in Genomics

Researchers at the University of Miami Miller School of Medicine collaborated on a recently published paper that provides new guidance on inclusion of underrepresented populations in genetics research.

The paper, titled “Addressing Underrepresentation in Genomics Research through Community Engagement,” was published in the American Journal of Human Genetics and aims to reflect and build an action plan for the vision of the American Society of Human Genetics (ASHG) on equity in human genetics and genomics. Rosario Isasi, J.D., M.P.H., research associate professor of human genetics in the Dr. John T. Macdonald Foundation Department of Human Genetics at the Miller School, represented the University as co-author in drafting the document.

“Historically, genetics and genomics research has been based on people of European [white] ancestry groups, leaving aside others,” said Isasi, who is also part of the John P. Hussman Institute for Human Genomics at the Miller School. “This lack of inclusion presents significant ethical issues as underrepresentation of populations is also problematic from a scientific point of view, leading to inaccurate scientific knowledge that impacts research findings as well as practical applications to improve health outcomes.”

Issued by the ASGH, the guidance addresses the lack of equity in genetics and the field’s historical focus on European data as a result of bias, systemic racism, and structural discrimination in medicine and society. To close the research gap, authors detail the potential for genetics and genomics researchers to gather diverse data by conducting meaningful engagement with historically and currently underrepresented communities.

Developing Trust

The guidance was developed by the ASGH’S Community Engagement Guidance Writing Group, of which Isasi is a member. She provided her perspectives as an ethicist and her knowledge about health disparities and engaging underrepresented populations in biomedical research. Over the year that they worked on the document, the authors focused on making clear how researchers can earn the trust of underrepresented communities and adopt practices that demonstrate trustworthiness.

The first part of the guide explains the research preparation phase, where researchers will learn about the community’s culture and issues while building partnerships through collaboration, training, and discussions. In the second phase, research will be collected by seeking input from the community while considering any potential harm to the group. The final step shows proper practices for distributing research information back to the community and maintaining long-term relationships.

“I am optimistic researchers will ultimately understand the immense benefits of meaningful community engagement and the long-term partnerships it facilitates,” Isasi said. “More importantly, I am hopeful they will fully commit to their ethical responsibility of addressing the inequities and wrongs arising from underrepresentation in genetics and genomics research.”

Leading by Example

The Hussman Institute and the Department of Genetics employ the same guided practices in several current research studies they are leading to promote meaningful community engagement and foster equitable representation in genetics and genomics.

These include a $2.9 million grant to study genetic factors of frontotemporal dementia in diverse populations while leading international studies, such as a $46 million grant to study Alzheimer’s disease in people of Hispanic and African ancestry.

“The importance of inclusion cannot be overstated,” said Margaret Pericak-Vance, Ph.D., director of the Hussman Institute and the Dr. John T. Macdonald Foundation Professor of Human Genetics at the Miller School. “Guidelines on how to engage in community-based research are critical so that future outcomes will benefit all groups.”

The Department of Human Genetics is also the lead site for the SouthEast Enrollment Center for the National Institute of Health’s All of Us Research Program, part of the NIH’s Precision Medicine Initiative. The department also contributes to research studies in Peru and other countries on Alzheimer’s and neuropathies, such as Charcot-Marie-Tooth disease.

Tags: American Journal of Human Genetics, American Society of Human Genetics, diversity, Dr. John T. Macdonald Foundation Department of Human Genetics, Dr. Margaret Pericak-Vance, genetics, health disparities, John P. Hussman Institute for Human Genomics, Miller School of Medicine, Rosario Isasi