Chapters:
5:00 An interesting finding on the architecture of height leads to a “lifetime bond and relationship” (joined at the acetabular labrum, you might say).
12:50 Translational medicine – “not taking years and years and years and not moving at a glacial pace” means scaling up.
16:30 Cancer and cardio are a great starting point for population screening, but where do we go next?
21:00 What does it mean to say we need more diverse databases? How representative do the data need to be to create equivalence across populations? We don’t need a database equally representative of every population across the planet to use the information for diagnosis, Eimear argues. But we do need to develop partnership and trust in areas of the world where we have no idea what is going on from a genetics perspective.
28:35 Twenty years after the end of the Human Genome Project, is physicians’ lack of genetic knowledge still an obstacle? “We still don’t do a good job of integrating genomic medicine into the way that future physicians will be thinking and treating patients,” says Noura. Their response: a genomic medicine track for internal medicine trainees.
37:00 Covid: what did the pandemic teach us about integrating genomics into public health?
42:00 Eimear suggests that we have only just begun to disentangle the environmental determinants of disease from our “genomic” data. How much is “baked in”? “Maybe we start to forget that how we stratify the groups has much more to do with the environmental component than any biological differences between the groups”
There’s no overstating how far we have come since 2000 in the fledgling science of genomics, but at times it has seemed that our ability to amass information has far outstripped our ability to make that information matter by improving healthcare. As extraordinary as the technology is, it cannot get it out of the computer and into clinical practice. Enter Eimear Kenny and Noura Abul-Husn, respectively Founding Director and Clinical Director of the Institute for Genomic Health at the Icahn School of Medicine at Mount Sinai in New York. Together, Eimear and Noura have turned their personal friendship and shared goals into translational genomics incarnate.
