Abstract

Can We Exploit the Power of NGS to Move Towards Personalized Medicine?

Jose Garcia Manteiga, Post Doctoral Fellow, San Raffaele Scientific Institute

As sequencing becomes cheaper and basic data analysis becomes more automated, NGS is entering the clinical field. Many hospitals have already setup or are in the process of setting up NGS platforms, and making use of them to try to investigate their patients with unprecedented depth of investigation. I will relate about our own experience of setting up a genomics center in a large research hospital, providing a picture of what lies "beyond the hype", and giving examples of specific projects we are pursuing. The talk will discuss some of the successes we could achieve in a short time in certain areas, such as rare genetic disorders, but also the vast challenges which lie ahead in other areas, such as understanding and modeling patients affected by complex diseases. I will discuss the approaches we are developing to further our understanding of complex disease, integrating genetics, epigenetics and trancriptomics to understand, and hopefully prevent, diagnose and treat disease. And finally I will discuss some of the underlying over-arching issues pertaining to making NGS a success in a clinical setting, such as biobanking, accurate biomedical research databases, and the governance and cultural framework.