Implementation of Genetic diagnostic testing in clinical care


Recent advances in genome sequencing and interpretation have provided fundamental insights into many medically important diseases, allowing for reclassification based on primary molecular pathogenesis and enabling more precise surveillance, therapy, prognosis, and counseling. While these scientific advances have led to widespread enthusiasm about the potential of genomics to transform clinical care, many challenges still need to be resolved before cost-effective clinical sequencing becomes routine. Challenging areas include correct and consistent interpretation of genomic findings; acquisition and interpretation of the data in a clinically relevant timeframe; development of reporting practices that patients and providers are able to understand and utilize to make decisions; and demonstration that clinical sequencing improves outcomes. To tackle the latter we partnered with NateraTM, a global leader in DNA testing in order to assess the utility of Renasight™, a next generation sequencing (NGS) multi-gene mutation assay, developed by Natera. We are investigating if using Renasight leads to improved clinical diagnoses and patients’ management. We were actively involved in the study development from the very beginning and are serving as a leading site for this study. minority and underserved populations in clinical research and generate valuable clinical and genomic data from a very diverse population.

66 genetic disorders defects in 9.3% of patients with CKD, and their phenotypic spectrum.
(Verbitsky, M. et al, J Clin Invest 125, 2171-2178, doi:10.1172/JCI80877 (2015))

Selected Publications