I came across this relatively old Twitter thread from the amazing Eric Topol about genomics. The following tweet in this thread really stood out to me.
In retrospect, it was naïve to think that we could understand the uniqueness & medical essence of human beings just by knowing their genome sequence.
There's many more important layers—multi-modal—information to help do thathttps://t.co/6wyWZwBZvK@CellCellPress open-access 3/5 pic.twitter.com/UsgELv93Qv
— Eric Topol (@EricTopol) December 26, 2018
Eric Topol is so right that we were a little bit naive about the genomic sequence being the key that unlocks human health. No doubt the genomic sequence is a big deal and we’re going to find a lot of medical discoveries from genomics, but we’re now realizing that there is so much more to a human than just the genome. In fact, I’ve heard from many people who are more excited by things like the microbiome and proteomics than they are genomics. We’ll see how all of that plays out.
More importantly here at Healthcare IT Today, it’s worth taking a step back and looking at the technology of today. Is the EHR software of today going to be sufficient to be able to facilitate all of the medical discoveries that are happening in the “genomics” space?
It gives me a chuckle to even think about it. It’s hard to imagine any EHR vendor really being able to address genomics in any reasonable form or fashion. Sure, they can take a genomic report, but that’s about it. Your EHR isn’t going to keep track of your genomic markers. It’s not going to enable genome specific drugs. That innovation is going to happen elsewhere. At best the EHR vendor is going to collect the results.
The good news for EHR vendors is that we’re not there yet. It’s also not clear how close we really are to really cracking the nut on genomic medicine. We see some really exciting breakthroughs, but it’s far from mainstream. And while many people are getting their 23andMe genomic sequence, it’s not clear to me that this small slice of your genome is really going to be medically relevant.
So, while I don’t think we’re at a point today where EHR vendors should be paying a lot more attention to genomic medicine, I’m also confident that the day will come. There are too many smart people working on these problems for it not to come.