Description of Program Content:
The webinar gives an overview of challenges that we still face today in next generation sequencing (NGS) based genetic diagnostics. These challenges are described also by using patient examples. It also defines how these challenges should be taken into consideration when selecting the optimal diagnostic test. It then focuses on the concepts of transparency in genetic diagnostics and how the lack of transparency is one of the major problems in the field. Finally, it describes strategies how laboratories could improve their transparency and by that assisting the health care professionals in selecting the best test for their patients.
Tero-Pekka is the Chief Medical Officer, President, and a co-founder of Blueprint Genetics. He is based in San Francisco and in charge of North American operations. He designs diagnostic panels and mutation databases and works with clinical evaluation of genetic data. Tero-Pekka has a MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. In 2007, he continued his research at Stanford University, School of Medicine. During this three year postdoctoral training, he focused on the molecular genetic mechanisms of cardiovascular diseases. He continued his cardiovascular research at the University of Helsinki as a principal investigator and the head of an academic research group.