Community engagement enables precision medicine approach that reduces the risk of chronic kidney diseases (CKD) in minority populations
New research from an Icahn School of Medicine at Mount Sinai pilot study shows that a community-led approach to genetic testing can help reduce the risks of chronic kidney disease for African Americans. In what may serve as a model for future precision medicine initiatives, the researchers used a community-focused paradigm to encourage genetic testing for a genetic variation known to increase the risk of chronic kidney diseases that is specific to African American populations.
Precision medicine uses the unique genetic features of individuals to provide care tailored to their medical needs. This modern approach to medicine shows tremendous promise but creates the risk of increasing certain healthcare disparities in historically underserved communities, according to a Mount Sinai news release.
To address this potential problem, researchers from Mount Sinai’s Icahn School of Medicine developed a clinical trial they called, Genetic Testing to Understand and Address Renal Disease Disparities (GUARDD). This trial focused on engaging key stakeholders in the local African American community and developing a collaborative approach to performing and reporting genetic testing.
The Mount Sinai researchers published their findings in the journal JAMA Network Open, titled, “Effects of Testing and Disclosing Ancestry-Specific Genetic Risk for Kidney Failure on Patients and Health Care Professionals.”
Engaging with Community Stakeholders for Genetic Testing
The genetic testing used in the GUARDD trial centered around the variants of a gene called apolipoprotein L1 (APOL1). Certain variants of APOL1 are associated with a significant increase in the risk of chronic kidney disease (CKD) and occur almost exclusively in those of African descent.
To launch the GUARDD study, researchers met with Mount Sinai’s Genomics Stakeholder Board to collaboratively develop genetic testing strategies.
“Community stakeholders play a key role in the GUARDD Study, which includes offering critical input and feedback regarding genetic testing, conditions like CKD, and our concerns regarding health disparities,” said Rev. Mimsie Robinson, PhD, in the Mount Sinai news release describing the study’s results. Robinson is the associate pastor of Bethel Gospel Assembly, New York, N.Y., and a member of the stakeholder board.
“Our community is often the last to benefit from advances in science and medicine,” Robinson explained, expanding on the potential the GUARDD study offered. “We’re hopeful that this study signifies a change in that trend so that people of color will not have to be skeptical of the healthcare system. That’s why it is so important for us to be involved in every aspect of this trial and others like it in the future.”
The engagement with the Genomics Stakeholder Board resulted in several community-specific interventions. These included:
- Developing tailor-made messages.
- Setting up a rapid electronic system for delivering genetic test results to primary care physicians.
- Deploying layperson volunteers from the community to recruit patients, collect data, and report test results.
“Thanks to the tireless work of our Stakeholder Board and other community members we were able to plan a trial that was not only sensitive to the patient’s particular needs but rooted in common-sense solutions,” said Carol R. Horowitz, MD. Horowitz is the Dean for Gender Equity in Science and Medicine at Icahn Mount Sinai and senior author of the study.
Improved Participation in Genetic Testing
Conducted over several years, the GUARDD study had several promising results. Patients who were engaged in the program saw blood pressure reductions over the three months after enrollment, regardless of their test results. Those who had a positive result for increased risk of kidney disease experienced a greater drop in blood pressure, indicating that risk-reduction interventions were effective. Patients who were positive were also more engaged in future kidney tests.
“These two measurements—the change in blood pressure and increased kidney function tests—act as hallmarks for detecting beneficial lifestyle changes,” said nephrologist Girish N. Nadkarni, MD. Nadkarni is an Irene and Dr. Arthur M. Fishberg Professor of Medicine at Icahn Mount Sinai, and lead author of the study. “The results suggest that the trial clearly influenced those who received positive results and may have had some positive effects on the other patients,” he added.
While this research shows promising results for using APOL1 genetic testing to reduce the risk of long-term kidney disease, it has broader implications for reducing disparities in precision medicine. Healthcare leaders that use Mount Sinai’s framework of focusing on engaging and collaborating with minority communities may see improved participation in genetic testing to personalize health interventions.