When I started MassGenomics in 2008, next-generation sequencing was in its infancy. We’d sequenced AML1 — the first cancer genome — with two nascent platforms: Illumina/Solexa (32-bp reads) and 454 FLX (450-bp reads). Already, we had a glimpse of the bioinformatics challenges that these technologies brought forth.
Sequencing for Common Disease
It’s astonishing how far the field has come in just eight years. Factory-scale sequencing now makes it practically and economically feasible to sequence tens of thousands of (whole human) genomes in a single year. Washington University and other large-scale sequencing institutions are currently applying it to ambitious studies of cardiovascular, autoimmune, and neurological conditions. By studying tens of thousands of genomes, it should be possible to comprehensively define the genetic architecture underlying each of these common complex diseases.
Rare Disease and Clinical Applications
Yet there are other important applications of next-gen sequencing, such as:
- The identification of genes underlying rare inherited disorders
- Molecular diagnosis and characterization of undiagnosed diseases
- Utilization of genomic information to improve clinical care
The distribution model for these applications is different from the factory-scale sequencing operation required for common disease. The democratization of NGS has empowered hundreds of smaller labs to carry out such research, and enabled rapid clinical sequencing at the point of care. That’s where the rubber hits the road, and it’s also where I want to be.
A New Position: Nationwide Children’s Hospital
Thus, after 13 years at Washington University, I’ve accepted a position as Principal Investigator at Nationwide Children’s Hospital. If the name of that institution sounds familiar, it’s because they’ve recruited Rick Wilson and Elaine Mardis to establish a new Institute for Genomic Medicine (IGM). Under their leadership, I’ll help build up the research program for the genetic basis of rare pediatric disorders.
So, what does this mean for MassGenomics? The blog will continue, hopefully at a greater frequency, and with a new emphasis into pediatric and clinical genomics. I should state for the record that the blog does not represent the views of Nationwide Children’s Hospital or the Ohio State University (where I’m now an assistant professor).
The McDonnell Institute at Washington University will continue on, by the way. The talented faculty and staff have already begun work on the common complex disease genomics (CCDG) program, while University leadership has initiated a search for a new director. They have capacity to spare, so if you’re looking for high-quality exome or genome sequencing (human or non-human), please reach out to Bob Fulton.
So that’s my news, and I hope to have more to share in the weeks to come.