Community-Based Evaluation of APOL1 Genetic Testing in African Americans
End stage renal disease (ESRD) or kidney failure affects over 500,000 persons in the United States and disproportionately affects racial and ethnic minority populations. Compared to whites, African Americans are 2-4 times more likely to develop ESRD, and represent 32% of the ESRD population, while only representing 13% of the US population. Two independent variants of the Apolipoprotein L1 (APOL1) gene, G1 and G2, have been associated with a 7 to10-fold greater risk of developing non-diabetic ESRD. People who inherit two risk variants (approximately 5 million African Americans) (G1/G1, G2/G2 or G1/G2) are also more likely to develop ESRD at a younger age. Individuals receiving donor kidneys from deceased individuals with two risk variants experience shorter kidney transplant survival. It is not known whether everyone with high-risk genotypes will develop ESRD; the exact mechanism of injury for APOL1-related risk or its relation to environmental exposures; or whether those with co-morbid conditions are more likely to develop ESRD. To address these uncertainties, research that includes assessment of APOL1 status will be needed.
The goal of this study is to determine African-American community views and also views of clinicians caring for people with kidney disease concerning the risks and benefits of returning information about APOL1 risk variants to research participants and testing for APOL1 risk variants in clinical care and renal transplant programs, and to promote inclusion of those views in policy discussions. We aim to complete 25 stakeholder interviews in this research project. These interviews will be combined with interviews from two other collaborative study sites (Seattle, WA and Jackson, MS), analyzed with qualitative data methods, and synthesized to report the views expressed by the participants.
The successful completion of this study will provide community-based guidance to researchers, clinicians, and policy makers regarding the return of APOL1 results to research participants, the use of APOL1 testing in clinical care and renal transplant programs, and gather ongoing community input as knowledge about APOL1 and kidney disease evolves.