Title: Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology

Biography:

Ali Gharavi is a leading kidney disease researcher, is chief of the division of nephrology at NewYork-Presbyterian/Columbia University Medical Center. Dr. Gharavi, also an associate professor of medicine at Columbia University College of Physicians and Surgeons and director of its renal physiology and pathophysiology course, joined NewYork-Presbyterian, Columbia in 2003.

Abstract

Massively parallel sequencing technologies such as exome sequencing are increasingly applied across medicine. Connaughton report a high diagnostic yield of exome sequencing among adults with hereditary nephropathy or nephropathy of unknown cause. Their findings support broader use of genomic sequencing in nephrology and highlight key associated questions, including how to identify those patients for whom testing is indicated, pinpoint pathogenic variants, and balance the resultant health care benefits and clinical follow-up burden.