Genetic testing may reduce risk of chronic kidney disease in African Americans


A new study by researchers at the Mount Sinai School of Medicine found that disclosing genetic test results for the genetic variant, apolipoprotein L1 (APOL1), a variant that is  associated with kidney disease and commonly found in individuals with West African ancestry, to patients and clinicians, lead to positive health outcomes for African American patients. 

The study, published in JAMA Network Open, was led by Girish N. Nardkarni, MD, MPH, professor of medicine at Icahn Mount Sinai. The study recruited 2,050 African American adults  who had high blood pressure but no existing chronic kidney disease. Participants were split into two groups: an intervention group and a control group. Patients in the intervention group received an APOL1 genetic test. Test results were disclosed to the patient and their clinician. All participants were given a blood pressure test and a survey that assessed the patient’s views on their health.

In the beginning of the experiment, researchers found that the mean blood pressure among those who tested positive for APOL1 was higher than those who tested negative.  

After three-months researchers tested the blood pressures of participants again. Average blood pressure levels dropped across all groups. Those who tested positive for the high risk APOL1 genotype had a greater drop in blood pressure than those who tested negative and those who were not tested at all. However, patients with APOL1 continued to have higher hypertension compared to those without the variant.

In the 12-month follow-up visit, patients underwent several kidney-function urine tests. Researchers found that patients who had tested positive for APOL1 had a significantly higher average systolic blood pressure than patients without the variant. Participants with APOL1 had a 12 percent increase in urine kidney disease, while those with low risk APOL1 genotypes has a six percent increase and the control group had a seven percent increase.

Survey results suggested those who had tested positive for APOL1 made more beneficial lifestyle changes than the other groups, including making better dietary choses, exercising more, and increasing use of blood pressure medication.

This study reveals that those with the APOL1 variant may be at a higher risk of hypertension and kidney disease, however, when patients and their clinicians are notified of their genetic testing results, they are more likely to change their lifestyle for the better.