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.
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.
Cognitively impaired/unable to provide consent
Terminally ill
Renal replacement therapy (RRT), e.g., (but not limited to) hemodialysis, peritoneal dialysis
* Black patients seen at Saint Louis University Internal Medicine, Family Medicine, Hypertension and Nephrology Clinics * Family members on enrolled patients, including first-degree relatives and household family members (e.g. spouses). Up to 3 family members per enrolled patient may also be enrolled. * Participation is also open to family members of SLUCare patients who have undergone APOL1 genotyping as part of clinical care (i.e., during evaluation of chronic kidney disease, including for kidney transplantation evaluation, or during living donor candidacy evaluation)
Ecologic or community
Prospective
Assessment of the frequency of APOL-1 renal risk variant in the black population, and evaluating their attitudes about genetic testing and APOL1 genotype via self-administered surveys
GeneticOn 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.
Determine frequency of APOL1 renal risk variants in black population
To assess the frequency and sociodemographic/clinical correlates of APOL1 renal risk variants in a local urban population of Black patients seen in Nephrology, Hypertension, Internal/Family Medicine clinics, or University Hospital.
Determine frequency of first degree relatives of enrolled participants with APOL1 renal risk variants
To assess the association and interaction between potential "second hits" such as environmental factors and comorbidities with APOL1 genotype on kidney function among Black patients and their families. * To assess attitudes of patients and family members about APOL1 genetic testing and the potential impact of knowing one's APOL1 genotype on hypertension and renal risk factor management through self-administered surveys. * To assess the interest of patients and family members in genetic counseling related to APOL1 genetic testing and kidney risk.
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St. Louis University
Lead sponsor
Mid-America Transplant
Collaborator
