Transforming “personalized genomics” from party hype into clinical action requires disruptive computational innovation that is based within the heart of the health care enterprise. That is why I recently elected to join the Department of Pathology at Beth Israel Deaconess Medical Center to help launch a new program in Genomic Pathology.

There my colleagues and I are focused on a national revamp of hospital Pathology to ensure that modern genomic practices are deeply integrated with and regulated by the same standards as any other clinical test in primary care. Our vision is to embed high-powered computational analysis and clinical assessment of human genomes directly into the pipeline of primary care testing.

We believe that this may be the only way to guarantee that the “thousand dollar genome” achieves its potential to make personalized medicine a ubiquitous reality. This move to Pathology is an important one for me and hopefully for medicine, but I want to stress that I am also remaining at the Center of Biomedical Informatics to ensure that my focus on autism remains primary. Check back later for more details on what I’m doing for personalized genomics and for understanding the genetics of autism.

In 1967, Henry Bennet-Clark discovered that fleas store the energy needed to catapult themselves into the air in an elastic pad made of resilin. However, in the intervening years debate raged about exactly how fleas harness this explosive energy.

New research into how fleas leap.

“The insects transmit the force from the resilin spring in the thorax through leg segments acting as levers to push down on the tarsus and launch the 0.7 mg animals at speeds as high as 1.9 m s–1.”

Just confirmed to speak at the iHT2 Health IT Summit in Atlanta . I will be focusing on cloud-based approaches to accelerating delivery of genomically-informed care. More soon…

We have a job opening for a project manager to help orchestrate efforts associated with our autism research, in particular the Autworks web portal. Please contact us if you are interested. Competitive salary, great working environment, and an opportunity to contribute to an important cause – the search for the genetic causes of autism. Come on! Yeah!

Peter Tonellato and I are co-directing and co-teaching with Peter Park and several others a new course on Next-Generation Sequencing Data and Implications. You can reach the course details, including lecture videos and slides, here .

Recent developments in next-generation sequencing (NGS) have been tremendous and this NGS platforms play an increasingly prominent role in biological research. Infrastructure to manage the flow of Next Generation Sequencing (NGS) technologies experiments has been developed. NGS technologies enable the resequencing of entire - genomes or the sampling of entire transcriptomes more efficiently and economically and with greater depth than ever before. Identifying and tracking genetic variation is now so efficient and precise that thousands of variants can be tracked within large populations. Our capacity to produce such data for multiple cancers of the same type is improving, so this course will focus on the NGS data analysis method and the implication.