September 10, 2020
6 min read
The value of precision medicine has been shown with the identification of the genetic causes of tumors that differ among patients. Applied to nephrology, precision medicine can offer an earlier look at the potential risk for kidney disease.
“Precision medicine is a personalized approach to disease management of the patient … The goal is to have the right dose, delivered at the right time, for the right patient,” according to Shweta Bansal, MD, an associate professor of nephrology at the University of Texas-San Antonio School of Medicine. “It is not about one approach that fits all patients. It must be tailored.”
The treatment regimen is the last step in precision medicine, Bansal said. The work begins with the detection of the origins of disease through genomics.
“[NIH director] Francis Collins said it most straightforward. Precision medicine is the application of prevention and treatment strategies that take individual variability into account,” Michael Eadon, MD, assistant professor of medicine in the divisions of nephrology and clinical pharmacology at Indiana University School of Medicine, told Nephrology News & Issues. “There has always been an overarching connotation that genomic information, either from your genome or downstream applications like gene expression, would be integrated into evidence-based medicine.”
Two examples of the application of genomics to detect the risk of end-stage kidney disease is research on the efficacy of the drug tolvaptan for patients with autosomal-dominant polycystic kidney disease (ADPKD) and the identification of risk variants in the apolipoprotein L1 (APOL1) gene that can lead to kidney disease.
In a study in Clinical Journal of the American Society of Nephrology, David J. Friedman, MD, and colleagues wrote that many types of severe kidney disease are higher in Black patients than in other patient groups. That disparity is attributed to genetic variants in the apoL1 (APOL1) gene found only in individuals with recent African ancestry, the authors wrote. “These variants greatly increase rates of hypertension-associated ESKD, [focal segmental glomerulosclerosis] FSGS, HIV-associated nephropathy, and other forms of nondiabetic kidney disease.”
Friedman and colleagues said the discovery of the APOL1 risk variants has led to discussions about incorporating genetic testing in the screening process for living kidney donors. Those with the APOL1 genomic makeup could pass