In this genomic medicine implementation pilot project, the team conducted a randomized trial in a network of community health centers and primary care facilities to study processes, effects and challenges of incorporating information for apolipoprotein L1 (APOL1)-attributable genetic risk for end stage kidney disease in patients of African ancestry with hypertension.

Principal Investigator

Carol R. Horowitz, M.D., MPH
Icahn School of Medicine at Mount Sinai
Director of the Center for Health Equity and Community Engaged Research
Associate Professor of Population Health Science and Policy
Associate Professor of Medicine, General Internal Medicine

Project Description

Chronic kidney disease (CKD) is most commonly associated with diabetes (40%) and hypertension (28%), and affects 26 million American adults. African ancestry populations with hypertension (HTN) have two- to three-fold higher risk of developing CKD, and a five-fold increased risk to progress to end stage renal disease (ESRD) when compared with whites. HTN is a risk factor for progression of CKD and for increased cardiovascular risk with CKD. Thus targeting blood pressure control as a modifiable risk factor may both reduce CVD in people with CKD and reduce progression of CKD to end stage disease. Recent discoveries demonstrate that testable alleles of the APOL-1 locus on chromosome 22 have a major effect on and explain almost all of the excess risk for hypertension-associated CKD and its progression to ESRD in African ancestry populations.

They used community-engaged approaches to enroll patients of African Ancestry with HTN from a network of community health centers and primary care facilities in Harlem and the Bronx and randomize them on a 7 to 1 ratio to receive APOL1 genetic testing and EMR-enabled provider clinical decision support incorporating APOL1 genomic risk information.

The research team was comprised of a multidisciplinary, multi-institutional, multicultural group of investigators that have conducted collaborative, translational research in genomics, CKD, hypertension, health disparities research, and have expertise in study trial design, recruitment, retention, implementation and analysis. Together, with their partners at the Institute for Family Health and the Centers for Community-Academic Research Partnerships (CCARP), their goal was to create new insights on how genomic medicine approaches will be adopted and whether they can make a difference to improve primary care for hypertensive kidney disease in populations of African ancestry.

Collaborating Sites

Institute for Family Health

Institute for Family Health (IFH) is a federally qualified neighborhood health center network that develops innovative ways to provide primary health services to medically underserved populations. Its projects and research grants funded by the CDC and others are developed and operated collaboratively with community-based organizations and medical schools. The Institute was one of the first freestanding community health center networks in the country to implement an integrated electronic health record (EHR) and practice management system throughout its entire network of sites. The full integration of the EHR system presents unparalleled opportunities for data collection, monitoring and evaluation for this project.

The Center for Community Academic Research Partnership

The Center for Community Academic Research Partnership (CCARP), directed by Carol Horowitz, is the community core of Sinai’s Clinical Translational Science Award. It builds capacity of and relationships between academic and community partners to conduct community-engaged research. The Center has a Partnership Board whose 19 members include 7 Sinai academic leaders and 14 leaders of large, powerful, community-based organizations including churches, social service and local healthcare institutions (including IFH). Subcommittee members agreed to serve as a board to inform the proposed project, and to continue to facilitate conversations between community members/clinicians. Subcommittee members will also consult with the study team on how to engage patients in discussions about genomics and how to integrate the return of genetic results into routine clinical care.

Key Personnel

  • Neil Calman, M.D. - Site PI