Transparency in genetic diagnostics
Published on June 15, 2017
In this podcast, Samuel Myllykangas, CTO, Ph.D and Tero-Pekka Alastalo, MD, Ph.D will discuss next generation sequencing used in clinical diagnostics and currently existing challenges in quality and performance. The Podcast also describes the Blueprint Genetics solutions and strategies to enforce transparency and improve the quality of genetic testing.
Key learning objectives:
- What are the challenges in today’s NGS diagnostics?
- How do laboratories set their quality standards?
- What are Blueprint Genetics solutions and strategies to enforce transparency and improve the quality of genetic testing?
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.
Samuel is the Head of R&D and Operations at Blueprint Genetics as well as a co-founder of the company. He is an expert in genome analysis technologies and has extensive experience in bioinformatics and cancer genomics research. Samuel received his PhD from the University of Helsinki and completed his post-doctoral research at Stanford University. At Stanford, he developed high-throughput sequencing technologies such as the Oligonucleotide-Selective Sequencing (OS-Seq™). He is an adjunct professor in genetics at the University of Helsinki, an author of several high-impact publications, and an inventor in patents of DNA sequencing methods.