In many individuals with presenting to a medical evaluation to our clinics, the underlying etiology of kidney disease is often unknown due to late referral or overlap in clinical manifestations of common disorders. New genomic technologies such as genome sequencing and chromosomal microarrays can detect mutations in known or novel genes, permitting precise diagnosis, resolving misclassification, and identifying subset of individuals with treatable conditions. Through support by NY State and the Columbia University Institute of Genomic Medicine , we are now performing a systematic study of exome sequencing for testing the indications and utility of the care of patients for kidney and liver disease. For example, we performed exome sequencing in 3330 patients with chronic kidney disease, and detected diagnostic mutations in 9.3% of cases. In the majority of cases, the genetic diagnoses had implications for clinical care.

Dr. Gharavi is a multi-PI for a number of national research projects related to development and implementation of Precision Medicine. In our Columbia GENIE project, which is part of the NHGRI-sponsored eMERGE network, we are defining the best procedures for return of genetic testing results and incorporation of genetic data into the electronic health records . In parallel, we are engaged in the "All of US" research program, an NIH sponsored national initiative to gather data from one million or more people living in the United States to accelerate research and improve health.