Peter L Nagy
Columbia University Medical Center, USA
Title: Clinical next-generation sequencing for constitutional hearing disorders
Biography
Biography: Peter L Nagy
Abstract
Our Laboratory of Personalized Genomic Medicine (LPGM) at Columbia University Medical Center started to offer clinical whole exome sequencing (WES) in January 2013. We processed and issued reports on over 500 constitutional cases including approximately 70 cases involving hearing loss. Next-generation sequencing in the clinical practice allows for a critical review of the literature describing the pathogenicity of specific mutations or the disease relatedness of specific genes and also provides an important discovery tool for new disease genes and disease causing mutations. Because of the large volume and complex nature of the data obtained from large panels and whole exome sequencing testing, the management of the data in a transparent, yet powerful analytical framework is the key to a successful clinical operation. We have provided diagnosis for constitutional patients in about one third of the cases we analyzed. The full potential for discovery of new disease associated genes and disease causing mutations can only be realized if there is a tight collaborative effort between the clinicians performing the interpretation and structural biologists and analytical chemists and cell biologists who can help predict and verify the effects of variants identified.