Performing apolipoprotein L1 (APOL1) genetic testing and informing patients of results may lead to improvements in blood pressure, healthy behaviors, and chronic kidney disease (CKD) screening, a new study finds.

Risk variants in the APOL1 (OMIM 603743) gene on chromosome 22 are common in individuals of West African ancestry and confer increased risk for kidney failure in those with hypertension, Girish N. Nadkarni, MD, MPH, of Icahn School of Medicine at Mount Sinai, New York, New York, and colleagues explained.

In a clinical trial, the investigators randomly assigned 2050 adults of African ancestry who had hypertension but no preexisting CKD to immediate or delayed APOL1 testing at 12 months. At baseline, mean systolic blood pressure was significantly higher among patients with high-risk APOL1 genotypes compared with those who had low-risk APOL1 genotypes or no APOL1 genotypes (137 vs 134 vs 133 mm Hg).

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At 3 months, mean systolic blood pressure had decreased significantly more in patients with high-risk APOL1 genotypes compared with the other groups: 3.6% vs 1.0% vs 1.3%, respectively, Dr Nadkarni’s team reported in JAMA Network Open. The difference between the groups with high-risk vs low-risk APOL1 genotypes remained significant after adjustment for age, sex, body mass index, comorbidity, income, education, and marital status.

Significantly more patients who learned they had a high-risk vs low-risk APOL genotype made healthier lifestyle choices, including improving their dietary and exercise habits (59% vs 37%), changing how they took their blood pressure medications (24% vs 10%), and taking blood pressure medications more often (10% vs 5%).

The rate of urine protein excretion testing for CKD increased significantly from baseline to 12 months among all patients, but especially patients with high-risk APOL1 genotypes: 12.0% vs 6.0% vs 7.0%, respectively, the investigators reported.

APOL1 genetic test results were conveyed to patients through laypersons trained by genetic counselors and to their primary care providers via electronic health record (EHR). Nearly all patients stated that they had sufficient information to decide on APOL1 genetic testing, the information was easy to understand, and they would get tested again.

“Return of APOL1 genetic testing results combined with EHR-based clinical decision support and disclosure of results to patients using laypersons improved [systolic blood pressure] control and increased guideline-appropriate kidney function testing,” Dr Nadkarni’s team concluded. Future studies should test programs aimed at intensely lowering blood pressure in these patients.

Disclosure: Some study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors’ disclosures.


Nadkarni GN, Fei K, Ramos MA, et al. Effects of testing and disclosing ancestry-specific genetic risk for kidney failure on patients and health care professionals: a randomized clinical trial. JAMA Netw Open. Published online March 4, 2022. doi:10.1001/jamanetworkopen.2022.1048