Natera, a provider in cell-free DNA testing, announced the publication of a new paper in Pediatric Nephrology that highlights the clinical utility of the comprehensive kidney gene panel Renasight in aiding the diagnosis and management of kidney disease. The publication can be found here.

Natera’s Renasight Test

This paper reviews the case of a 16-year-old patient with sickle cell disease (SCD) and kidney cysts. Natera’s Renasight test, a genetic testing panel that analyzes 385 genes related to kidney disease, was administered to examine whether an additional genetic cause may have been contributing to the patient’s kidney cysts. The test identified genetic variants which led to a diagnosis of autosomal dominant polycystic kidney disease (ADPKD), in addition to the patient’s SCD.

SCD and ADPKD are distinct genetic conditions that affect kidney function. SCD is routinely diagnosed in newborns whereas ADPKD is most often diagnosed in adulthood. While both conditions may include the presence of kidney cysts, the two conditions have different treatment regimens and complications. Furthermore, there is the potential that treatments effective in one condition may be harmful to the other.

“In identifying the presence of these two conditions, genetic testing has provided crucial information impacting how we will monitor and treat this patient,” says Asifhusen Mansuri, MD, Pediatric Nephrologist with Augusta University Medical Center. “We would not typically be looking for ADPKD in patients like this, and had it not been for this test, the patient’s ADPKD might have gone undiagnosed. Genetic testing is providing care teams with key insights that will better inform disease management and potentially slow disease progression for patients with kidney disease.”

Chronic kidney disease affects more than 10% of the global population. The New England Journal of Medicine published a study1 in 2019 showing that 89% of patients with positive findings on a multi-gene genetic test had actionable clinical implications.

“This paper brings awareness to the complex nature of managing patients with dual monogenic conditions and the benefit to using broad-panel genetic testing,” says Sangeeta Bhorade, MD, chief medical officer of Organ Health at Natera. “To our knowledge, this manuscript is the first report of an individual with both sickle cell disease and polycystic kidney disease, and as such, reporting additional cases of dual diagnoses will help deepen understanding of disease course and optimize treatment strategies.”

The clinical utility of Renasight is also being studied in a real world, prospective, multi-center clinical study called RenaCARE (Renasight Clinical Application, Review and Evaluation). The study includes more than 1,600 patients across more than 30 sites, representing leading academic and private nephrology clinics in the U.S.

“Genetic testing presents a significant opportunity to improve the clinical management of diverse kidney diseases in both adults and children,” says Matthew Sampson, MD, MSCE, associate professor of Pediatrics at Harvard Medical School, Staff Nephrologist at Boston Children’s Hospital, Associate Member of the Broad Institute and a member of the Natera Scientific Advisory Board. “The eventual results of the RenaCARE study should help nephrologists and patients across the U.S. to more precisely understand the clinical utility of expanded genetic testing for kidney diseases such as that provided by Renasight.”

Preliminary results from the RenaCARE study will be presented at the National Kidney Foundation’s Spring Clinical Meetings in April, and a publication for the study is expected to be submitted in early 2023.


1. Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med. 2019; 380:142-151 DOI: 10.1056/NEJMoa1806891