Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party.

PURPOSE: African ancestry (AA) individuals are inadequately included in translational genomics research, limiting generalizability of findings and benefits of genomic discoveries for populations already facing disproportionately poor health outcomes. We aimed to determine the impact of stakeholder-engaged strategies on recruitment and retention of AA adult patients into a clinical trial testing them for renal risk variants nearly exclusive to AAs. METHODS: Our academic-clinical-community team developed ten key strategies that recognize AAs' barriers and facilitators for participation. Using electronic health records (EHRs), we identified potentially eligible patients. Recruiters reached out through letters, phone calls, and at medical visits. RESULTS: Of 5481 AA patients reached, 51% were ineligible, 37% enrolled, 4% declined, 7% were undecided when enrollment finished. We retained 93% at 3-month and 88% at 12-month follow-up. Those enrolled are more likely female, seen at community sites, and reached through active strategies, than those who declined. Those retained are more likely female, health-literate, and older. While many patients have low income, low clinician trust, and perceive racism in health care, none of these attributes correlate with retention. CONCLUSION: With robust stakeholder engagement, recruiters from patients' communities, and active approaches, we successfully recruited and retained AA patients into a genomic clinical trial.

Effects of Testing and Disclosing Ancestry-Specific Genetic Risk for Kidney Failure on Patients and Health Care Professionals: A Randomized Clinical Trial.

IMPORTANCE: Risk variants in the apolipoprotein L1 (APOL1 [OMIM 603743]) gene on chromosome 22 are common in individuals of West African ancestry and confer increased risk of kidney failure for people with African ancestry and hypertension. Whether disclosing APOL1 genetic testing results to patients of African ancestry and their clinicians affects blood pressure, kidney disease screening, or patient behaviors is unknown. OBJECTIVE: To determine the effects of testing and disclosing APOL1 genetic results to patients of African ancestry with hypertension and their clinicians. DESIGN, SETTING, AND PARTICIPANTS: This pragmatic randomized clinical trial randomly assigned 2050 adults of African ancestry with hypertension and without existing chronic kidney disease in 2 US health care systems from November 1, 2014, through November 28, 2016; the final date of follow-up was January 16, 2018. Patients were randomly assigned to undergo immediate (intervention) or delayed (waiting list control group) APOL1 testing in a 7:1 ratio. Statistical analysis was performed from May 1, 2018, to July 31, 2020. INTERVENTIONS: Patients randomly assigned to the intervention group received APOL1 genetic testing results from trained staff; their clinicians received results through clinical decision support in electronic health records. Waiting list control patients received the results after their 12-month follow-up visit. MAIN OUTCOMES AND MEASURES: Coprimary outcomes were the change in 3-month systolic blood pressure and 12-month urine kidney disease screening comparing intervention patients with high-risk APOL1 genotypes and those with low-risk APOL1 genotypes. Secondary outcomes compared these outcomes between intervention group patients with high-risk APOL1 genotypes and controls. Exploratory analyses included psychobehavioral factors. RESULTS: Among 2050 randomly assigned patients (1360 women [66%]; mean [SD] age, 53 [10] years), the baseline mean (SD) systolic blood pressure was significantly higher in patients with high-risk APOL1 genotypes vs those with low-risk APOL1 genotypes and controls (137 [21] vs 134 [19] vs 133 [19] mm Hg; P = .003 for high-risk vs low-risk APOL1 genotypes; P = .001 for high-risk APOL1 genotypes vs controls). At 3 months, the mean (SD) change in systolic blood pressure was significantly greater in patients with high-risk APOL1 genotypes vs those with low-risk APOL1 genotypes (6 [18] vs 3 [18] mm Hg; P = .004) and controls (6 [18] vs 3 [19] mm Hg; P = .01). At 12 months, there was a 12% increase in urine kidney disease testing among patients with high-risk APOL1 genotypes (from 39 of 234 [17%] to 68 of 234 [29%]) vs a 6% increase among those with low-risk APOL1 genotypes (from 278 of 1561 [18%] to 377 of 1561 [24%]; P = .10) and a 7% increase among controls (from 33 of 255 [13%] to 50 of 255 [20%]; P = .01). In response to testing, patients with high-risk APOL1 genotypes reported more changes in lifestyle (a subjective measure that included better dietary and exercise habits; 129 of 218 [59%] vs 547 of 1468 [37%]; P < .001) and increased blood pressure medication use (21 of 218 [10%] vs 68 of 1468 [5%]; P = .005) vs those with low-risk APOL1 genotypes; 1631 of 1686 (97%) declared they would get tested again. CONCLUSIONS AND RELEVANCE: In this randomized clinical trial, disclosing APOL1 genetic testing results to patients of African ancestry with hypertension and their clinicians was associated with a greater reduction in systolic blood pressure, increased kidney disease screening, and positive self-reported behavior changes in those with high-risk genotypes. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02234063.

Race, Genomics and Chronic Disease: What Patients with African Ancestry Have to Say.

BACKGROUND: Variants of the APOL1 gene increase risk for kidney failure 10-fold, and are nearly exclusively found in people with African ancestry. To translate genomic discoveries into practice, we gathered information about effects and challenges incorporating genetic risk in clinical care. METHODS: An academic-community-clinical team tested 26 adults with self-reported African ancestry for APOL1 variants, conducting in-depth interviews about patients' beliefs and attitudes toward genetic testing- before, immediately, and 30 days after receiving test results. We used constant comparative analysis of interview transcripts to identify themes. RESULTS: Themes included: Knowledge of genetic risk for kidney failure may motivate providers and patients to take hypertension more seriously, rather than inspiring fatalism or anxiety. Having genetic risk for a disease may counter stereotypes of Blacks as non-adherent or low-literate, rather than exacerbate stereotypes. CONCLUSION: Populations most likely to benefit from genomic research can inform strategies for genetic testing and future research.