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. We define how these challenges should be taken into consideration when selecting the optimal diagnostic test. We also focus on the concepts of transparency in genetic diagnostics and how the lack of transparency is one of the major problems in the field. Finally, we describe strategies for laboratories to improve their transparency and by that assisting the healthcare professionals in selecting the best test for their patients.
Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.