Next-Generation Sequencing in the Clinical Setting

Dr. Avni Santani, Scientific Director of the Molecular Genetics Lab at the Children’s Hospital of Philadelphia (CHOP), and Dr. Jennifer Morrissette, Clinical Director for the Center for Personalized Diagnostics at the University of Pennsylvania Hospital, were part of a panel on how next-generation sequencing is currently being used to provide personalized care and diagnostics to patients. Next-generation sequencing is a technology that quickly and cheaply sequences DNA. It is currently being used at hospitals to decipher what gene or genes were mutated. 

At CHOP, Dr. Santani sequences not only the child’s genome but that of the parents to determine if the mutation causing the illness is inherited.  Dr. Santani noted that as a result of their work, her lab is finding a new gene every week.  Dr. Morrissette is using this technology to sequence cancer patients’ tumors.  Once they know the sequence of the tumor, physicians are better able to understand what treatments a patient needs.  The main challenge that Dr. Santani and Dr. Morrisette said they are facing is that there has to be new software to process, store, manage, and interpret the data; it is a new field that is growing quite quickly.  This technology is fairly new and holds so much potential.  It has the ability to change the way that healthcare is delivered by providing more personalized care.