Genomic Pathology
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.