4 ms·

The National Human Genome Research Institute keeps an up to date website on the costs of sequencing: https://www.genome.gov/27541954/dna-sequencing-costs/ https

The National Human Genome Research Institute keeps an up to date website on the costs of sequencing: https://www.genome.gov/27541954/dna-sequencing-costs/ https://www.genome.gov/27541954/dna-sequencing-costs/ Their "cost per genome" image suggests the $1000 genome : https://www.genome.gov/images/content/costpergenome2015_4.jpg https://www.genome.gov/images/content/costpergenome2015_4.jp... . The costs of assaying a genome has dropped from $100 million to $1 thousand. Identifying correlations with clinical metadata, understanding the post translational interactions and understanding the full roles of proteins and other molecules remains an intimidating and difficult job.

grey-area 10y ago
People are working hard on using the data now though. This sort of thing takes time but we now have the tools to do it. http://www.genomicsengland.co.uk/the-100000-genomes-project/ http://www.genomicsengland.co.uk/the-100000-genomes-project/
themartorana 10y ago
$1000 is a drop in the bucket of a normal hospital bill or lifelong drug prescription for advanced/debilitating/catastrophic diseases. Edit: I realize it's a small part, but it's the first step, and it's already relatively inexpensive, which is a good sign.
- mbreese 10y 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 10y ago
    The 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 10y ago
      But 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...

grey-area 10y ago

People are working hard on using the data now though. This sort of thing takes time but we now have the tools to do it. http://www.genomicsengland.co.uk/the-100000-genomes-project/ http://www.genomicsengland.co.uk/the-100000-genomes-project/

themartorana 10y ago

$1000 is a drop in the bucket of a normal hospital bill or lifelong drug prescription for advanced/debilitating/catastrophic diseases. Edit: I realize it's a small part, but it's the first step, and it's already relatively inexpensive, which is a good sign.

mbreese 10y 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 10y ago
  The 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 10y ago
    But 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...