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The $1000 is also minor compared to the computational and personnel costs required to interpret a clinical genome. It's almost cheaper to re-sequence a genome t
by mbreese 11y ago
The $1000 is also minor compared to the computational and personnel costs required to interpret a clinical genome. It's almost cheaper to re-sequence a genome than store the raw data long term. And the interpretation of the genome usually requires a multi-disciplinary team with advanced degrees (MS/PhD/MD). That part of the problem is still largely a manual process, and will be for the foreseeable future.
I'm not saying that it's not worth it in some cases, but the sequencing is only a small part of the overall costs.
- tosseraccount 11y agoThe real cost of sequencing: scaling computation to keep pace with data generation : http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0917-0 http://genomebiology.biomedcentral.com/articles/10.1186/s130...
- mbreese 11y agoBut at least scaling computation / storage is possible. A challenge to be sure, but it's a challenge that the entire computer industry is dealing with. Interpretation, on the other hand, is quite different. Currently, interpretation still requires a human to look at everything. And regardless of how good annotations and algorithms get, I have yet to hear of anyplace where the final annotations aren't manually curated (maybe automated, but still requires a human in the loop). This aspect of Precision Medicine doesn't scale quite as well as sequencing or computation...