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Diversifying genomic medicine beyond genes

A team of researchers from ASU, Mayo Clinic and Mountain Park Health Center are collaborating to expand the application of genomic medicine

An elite team of researchers from ASU, Mayo Clinic and Mountain Park Health Centers is working together to increase access to personalized prevention in the communities most impacted by health disparities by using genetic information to guide prevention and early intervention efforts.

November 09, 2020

The work to improve health and health care is ongoing and ever-evolving. It takes many shapes, from streamlining delivery to improving care and pursuing inclusive medical research to help develop precision medicine for all populations.

This was a key element of the Arizona RAVE study, a collaboration between researchers from Arizona State University, Mayo Clinic and Mountain Park Health Center. The study brought genomic medicine to a Federally Qualified Community Health Center that serves low-income patients in the Phoenix area, a population that is rarely included in this type of research.

Specifically, 500 Latino adults were recruited and consented to have their DNA sequenced for a panel of “medically actionable genes.” The panel included genes that predispose individuals to certain diseases such as heart disease and breast and colon cancer. Findings in these genes are related to health conditions with established medical recommendations or interventions. The results were then shared with the participants and their providers for follow-up.

The study, published in Genetics in Medicine highlights the intersection of medical advances with social determinants of health — which includes factors such as the unequal distribution of resources, poverty, access to health care, transportation, housing instability and health literacy. 

“We are exploring how to balance state-of-the-art medicine with state of the community," said Gabriel Shaibi, RAVE co-investigator and director of ASU’s Edson College of Nursing and Health Innovation’s Center for Health Promotion and Disease Prevention. "In other words, how can we bring the latest in medical technologies stemming from research advances to diverse populations and settings? Our hope is to establish an approach that allows scientific advances to be impactful and effective for individuals and communities regardless of their socioeconomic status."

The goal is to increase access to personalized prevention in the communities most impacted by health disparities by using genetic information to guide prevention and early intervention efforts. This requires continued partnerships with providers who know their communities and an appreciation for nonbiological factors, i.e., social determinants of health that contribute to health inequities.

The team of ASU, Mayo Clinic and Mountain Park Health Center researchers will get the opportunity to extend their efforts further with funding from the National Human Genome Research Institute at NIH. They will be working on a five-year project with a handful of other institutions across the United States through the eMERGE network.

We spoke with the project’s co-principal investigators: Dr. Iftikhar Kullo and Richard Sharp from Mayo Clinic, as well co-investigator Shaibi and their collaborators Dr. Davinder Singh, medical director of Mountain Park Health Center, and Valentina Hernandez, director of Integrated Nutrition Services, about the importance of this work and its potential impact.

Question: What was your key takeaway from this first study?

Hernandez: The importance of including diverse populations in research is crucial, but along with including diverse populations, we must take into account how the social determinants of health influence individuals and address those in research planning. The AZ RAVE Study was eye-opening in the sense that it highlighted the lack of resources, support and understanding in the local population. These challenges became barriers for patients to take meaningful action that was recommended as part of the AZ RAVE Study. In the future with studies like these, I would like to see a greater investment by researchers and funders to support health education and to ensure that basic follow-up treatment can be provided for research participants regardless of their socioeconomic or insurance status.

Another key takeaway was the success the AZ RAVE study team had in communicating results to participants in the study, both positive and negative, and connecting with every participant that warranted additional follow-up. The study team worked very well and considered the possible challenges and obstacles while planning, even bringing the Sangre por Salud Community Advisory Board into the conversation, as well as the medical provider team at Mountain Park Health Center to ensure the messaging was clear and concise. The team also worked around the needs of the participants by seeing them in the evenings, around work and child care schedules in order to meet the participants in the most convenient way possible.  

Q: Why is this type of genomic research necessary or important? What are the possibilities?

Kullo: Genomic sequencing has potential applications in detection and treatment, in both rare and common diseases, and several health systems have begun to integrate genomic sequencing data into patient care. However, challenges to implementing genomic medicine in low-resource settings such as Federally Qualified Health Centers are not known. We need to expand such research of genomic medicine implementation in low-resource settings to reduce health disparities.

Shaibi: We know that there are certain genetic and genomic factors that increase an individual’s risk for many chronic diseases such as cancer and heart disease. Identifying and sharing this information with doctors and patients can help guide individualized treatment efforts. This type of work has the potential to reduce the burden of disease at the individual as well as societal levels.  

Q: Discuss the need for diversity in genomic research.

Sharp: One of the central aims of our study was to assess the feasibility of offering genomic screening in a nontraditional setting. In the past, access to genomic medicine has been limited to large academic medical centers like Mayo Clinic and, unfortunately, not all patients have convenient access to those types of facilities. As advances in individualized medicine continue, it's essential that we consider how to make genomic testing more easily available to all patients who might benefit from the information those tests can provide.

Q: Why is it important for health centers like MPHC to participate in research? 

Singh: Federally Qualified Community Health Centers (FQHCs) like Mountain Park Health Center have an important role to play in research because the lack of diversity in research indirectly impacts the populations we serve, by limiting new knowledge and discovery to those who have more privilege in the form of health, education and resources. Many of our patients represent communities that carry a disproportionate burden of disease like obesity, cardiovascular disease and diabetes. These communities’ participation in research could help find new ways to alleviate or prevent some of this burden for future generations while contributing to science that can be more meaningful to all communities. 

Mountain Park Health Center and other FQHCs are also important to research because research in minority communities must be done in a well-thought-out and ethical manner. Many people in vulnerable communities might be leery of researchers and research in general. Mountain Park believes trust is at the foundation of our role in the community, and therefore any research in our clinic must be done in a way that is culturally appropriate, in the language of the patient, with the best interest of the patient in mind, as well as provide some benefit to the patient, which can include diagnostic tests, education or an intervention. 

Q: Do you have a sense of how this research may be received by the broader community?

Singh and Hernandez: At Mountain Park Health Center we formed a Community Advisory Board (CAB) that consists of community members, some patients, and some nonpatients. The group is diverse in education, language, occupation and gender. We engaged the CAB early on to help us with the research and presented the results to them once we were finished. The CAB’s overall consensus was that bringing this type of research and education to the community is very important, in order to further science and improve awareness of research and genomics. The CAB also acknowledged the potential for concern that genomics research may have on vulnerable individuals within marginalized communities and advised us on how we can address these concerns going forward. 

The implementation of the AZ RAVE study was in great part a success because of how much the CAB helped to advise the team on various components of the study. From the planning process to the implementation, the CAB was involved in each step and provided valuable insight, such as how to best consent on a complex topic, how to best communicate results, both negative and positive results in a way that would not alarm patients (negative) and communicate some urgency (positive) in patients receiving results.

Q: Anything else you'd like us to know?

Kullo: In the next phase of this project, we plan to focus on the genomic risk of common diseases including coronary heart disease, diabetes, high blood pressure, colon cancer, etc. Our goal is to incorporate genomic risk variants in conventional risk stratification algorithms to increase their accuracy and assess outcomes after returning results to participants and providers.

Shaibi: This type of project can only be accomplished through collaboration. The individuals and institutions involved worked as a team focused on a collective goal. Being able to continue the collaboration with an additional round of funding from NIH is a testament to the team’s energy, effort, and commitment to advancing science and improving health equity. 

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