"What are you working on right now?
I’m really focused on applying genomics in the clinic at scale and so I’m working across two big federal projects.
The first is the ClinGen project, which involves annotating clinical genomes and developing the best resources to enable that. Ideally, I think that needs to move towards machine learning and artificial intelligence that can learn how to annotate and curate genomes at scale.
The second project is a large-scale sequencing programme examining the genetics of common disease. We’re developing the framework for how we will sequence and analyse hundreds of thousands of genomes over the next four years, as part of the NHGRI, to identify genes responsible for common disease.
The last area, which is the newest and is what I’m most excited about, is beginning to think about how this all goes direct to consumer. For me, the future of medicine is direct to patients, distributed digitally, and deployed at scale, and I believe we’re moving towards a telemedicine system that can begin to solve the cost problems of healthcare. I’m a real believer that, if we do this right, with the right partnerships, we’ll be able to make a healthcare system that’s faster, better, and cheaper than the one we have today, which was designed a hundred years ago for acute care.
Part of that is figuring out how to bring accurate, actionable information to patient consumers; technology can really help in that domain. So we’re looking for partnerships with companies who have technologies that we can validate. One example that one of my colleagues is working on is using a smart watch trained in a clinic with an ECG to monitor the heart rate of dilated cardiomyopathy patients at home."