APOL1 Genetic Testing in African Americans
APOL1 Genetic Testing in African Americans: Exploring Attitudes About Genetic Risk to Improve Comprehensive Kidney Risk Assessment for Patients and Families
St. Louis University
600 participants
Jan 24, 2019
OBSERVATIONAL
Conditions
Summary
Recent breakthroughs in medical genetics have discovered that a portion of kidney failure affecting the Black community is mediated by coding variants in a gene called apolipoprotein L1 (APOL1) - and that genetic variants, not race - account for increased risk. For APOL1 genetic testing to be applied in a manner that improves patient care and outcomes, more information is needed regarding associations of genotype with clinical parameters related to kidney health. Further, understanding patient perceptions about knowledge of the results of APOL1 genetic testing, and how that impacts patient engagement with management of hypertension and other renal risk factors, is urgently needed. * In a Phase 1 pilot study, we offered APOL1 genetic testing to Black patients seen in our Hypertension and Nephrology clinics at Saint Louis University, an academic medical center that serves the local urban community, and surveyed patients on attitudes and concerns about APOL1 genetic testing. 144 participants were enrolled in Phase 1. * In the Phase 2 study, we will advance this important work in our community by offering participation to a broader patient base, including patients seen in Internal and Family Medicine clinics, SLU Hospital, as well as to first-degree relatives and spouses of SLUCare participants. This expansion seeks to advance understanding of environment-gene interactions, improve risk prediction, and target management of potentially modifiable risk factors.
Eligibility
Inclusion Criteria2
- Ages 18-90
- Self-Identified as Black/African American. Race will be self-identified. Patients of African ancestry who identify as multi-racial are also eligible to participate.
Exclusion Criteria3
- Cognitively impaired/unable to provide consent
- Terminally ill
- Renal replacement therapy (RRT), e.g., (but not limited to) hemodialysis, peritoneal dialysis
Interventions
On day of enrollment, participants will have 1 blood sample obtained to extract DNA for determining their APOL1 genotype, and will answer a survey asking about their attitudes/beliefs on kidney disease, hypertension, and diabetes, as well as genetic testing. Participants will receive their results via telephone shortly thereafter, and then complete the same survey at 3 months and 12 months post-enrollment, in order to evaluate if any of their attitudes or beliefs have changed since knowing their APOL1 genetic test result. Those who are interested, specifically those who carry the homozygous or compound heterozygous renal risk variant, will have the option to speak with a designated genetic counselor who is associated with the study site and approved by the IRB.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05656261