Sharing genetic testing with patients of African ancestry can improve kidney outcomes
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Disclosing apolipoprotein L1 genetic testing to patients of African ancestry can lead to those with high-risk genotypes reducing systolic blood pressure, increasing kidney disease screening and improving lifestyle habits, according to data.
Further, researchers noted that trained clinicians can play a critical role in returning genetic results to patients of underrepresented groups.
“Racial and ethnic minorities, specifically African Americans, are at high risk of kidney failure compared to other populations. Although, the reasons for this are multifactorial and race itself is a social construct, ethnicity has genetic components,” Girish N. Nadkarni, MD, MPH, the Dr. Arthur M. Fishberg Professor of Medicine at Icahn Mount Sinai in New York, told Healio. “One such specific component is risk mutations in the apolipoprotein L1 (APOL1) gene (ie, APOL1 high risk) that are present in up to 16% in African Americans and confer a high (up to fivefold) risk of kidney failure. Thus, APOL1 mutations are a rare example of a genetic mutation that are frequent and confer high risk of chronic disease, making them a prime candidate for return of results (RoR) to patients and providers.”
“However, there had been no randomized clinical trials to show that returning APOL1 genetic results improves risk factors for kidney disease, kidney disease screening or changes in patient’s lifestyle,” Carol R. Horowitz, MD, MPH, dean for gender equity in science and medicine at Icahn Mount Sinai in New York, told Healio. “To address this important unmet need in research, we conducted the first pragmatic, randomized controlled trial for returning results to understand these unanswered questions.”
Testing patients for APOL1
With colleagues, Nadkarni and Horowitz randomly assigned 2,050 adults of African ancestry (66% were women; mean age was 53 years) with hypertension and without chronic kidney disease to undergo immediate or delayed APOL1 testing in a seven to one ratio. All patients came from two U.S. health care systems between Nov. 1, 2014, and Nov. 28, 2016.
Patients assigned to immediate testing (intervention group) received APOL1 genetic testing results from trained staff, whereas the delayed patients (waitlist control group) received results after their 12-month follow-up. The final date of follow-up was Jan. 16, 2018.
Researchers considered the change in 3-month systolic blood pressure and 12-month urine kidney disease screening measuring intervention patients with high-risk APOL1 genotypes and patients with low-risk APOL1 genotypes as co-primary outcomes.
Impacts of disclosing genetic testing to patients
Analyses revealed patients with high-risk APOL1 genotypes showed a “significantly higher” baseline and 3-month mean systolic blood pressure than patients with low-risk APOL1 genotypes and controls. Similarly, patients with high-risk APOL1 genotypes experienced a 12% increase in urine kidney disease testing at 12-months compared with the 6% increase among those with a low-risk APOL1 genotype and a 7% increase among controls.
Three months after enrollment, high-risk patients’ average systolic blood pressure levels decreased from 137 mmHg to 131 mmHg. Patients with low risk and in the control group also experienced a drop in blood pressure.
“The magnitude of decrease in systolic blood pressure, as well as the proportion of individuals with APOL1 high risk that made positive lifestyle changes, was surprising and gratifying,” Nadkarni told Healio.
Following testing, patients with high-risk APOL1 genotypes reported changing more lifestyle habits and using more blood pressure medication compared with those with low-risk APOL1 genotypes.
“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 (eg, taking blood pressure medications regularly) in those with genetic high risk,” Horowitz told Healio. “Additionally, we also show that trained laypersons can play a critical role in returning genetic results. This provides a new paradigm for return of genetic results especially in racial and ethnic minorities.”
Researchers intend to conduct the second phase of the trial soon with more than double the number of patients as the first phase, including those with CKD.
Reference:
- Could a community-based approach to genetic testing help African Americans reduce risks of chronic kidney disease? https://www.mountsinai.org/about/newsroom/2022/could-a-community-based-approach-to-genetic-testing-help-african-americans-reduce-risks-of-chronic-kidney-disease. Published March 4, 2022. Accessed March 14, 2022.
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