Chapters:
2:45 It’s the mission of the IGM to bring personalized medicine approaches to as many clinical settings as possible. Biggest surprise? The unexpectedly large role of Mendelian genetics in adult onset disease. The moral of the story, David says, is that we are not as good as we thought at recognizing those individuals with a relatively straightforward genetic disease.
9:15 GWAS! David (somewhat reluctantly) revisits the “GWAS wars” and his own path from enthusiast to critic and part way back again. Today’s GWAS? Informative about risk and a great potential tool in the design of clinical trials, but not as useful as we had hoped for understanding the underlying disease biology. “By pointing at everything,” David explains, “they end up pointing at nothing.”
19:20 Rare disease: the good news is, we are getting very good at genetic diagnosis. Rare variants are a useful starting place for understanding the biology of the disease, and they also can be relevant to medical management – but to date, only in a minority of cases. Will that change? Yes, says David, but slowly and incrementally, and not until we find a way to treat diseases related to more than a handful of genes. But while he tamps down on the personalized medicine hype machine, David points out that in the meantime, knowing “why” is a win for families even when medical care is not significantly altered.
39:15 Genomics in the Age of Covid-19: Labs are currently working on novel approaches to treatment (by down regulating the production of a protein that SARS-CoV-2 requires to enter cells, a strategy he expects will be moving to clinical trials imminently) and on studies examining genetic differences that effect host susceptibility and response.
David Goldstein is a self-described “geneticist for hire.” It’s been five years since he arrived in New York as the inaugural director of the Institute for Genomic Medicine at Columbia University Medical Center, and despite his California roots, the city has adopted David as a native son (no, seriously, he is often mistaken for a native New Yorker. Why? I have theories…).
In a wide-ranging conversation, David and I discuss progress at the IGM, his views on the genetics of common disease (wherein I try to get him to reprise controversial comments from the past, with mixed success) and the global movement to fight Covid-19, including their own work, right here in the heart of the world’s hardest hit regions. He’s definitely a New Yorker now!
