Jan. 12th, 2013

ellestra: (winged)
[livejournal.com profile] jaylake, whose books, you might've read, has cancer. Really bad, aggressive, not-responding to treatment cancer. In last resort they will try whole genome sequencing hoping to find out what kind of mutations are fuelling his cancer and if there is a better treatment associated with that specific types of mutated genes. It still might not work but it is a chance. However, it is also very expensive.

I mostly forget how expensive it still is. I do it everyday (mostly not clinical but research so we are less time oriented but still a lot of it is people and some of that is cancer) and you cannot think of the money involved all the time because it would be too distracting but it is very expensive. We are preparing for new, faster, cheaper technologies but not yet. And time is also crucial here. The whole procedure to prepare the sample, test it and sequence enough to get the whole data. And then waiting for the sequencing to finish and then for data analysis means it also takes time. A lot of time.

I keep wondering whether in his case exome sequencing wouldn't be better than WGS. Exomes are only those parts of genome that actually code protein - without all the spacers and other structural junk. It's much smaller subset of the whole DNA so it would be cheaper (and depending on the method used for sequencing might be also faster) butt there is of course some information lost that way. This is probably way they want everything - no time to redo if the results are inconclusive.

So it will take time and money (and money to buy time and speed things up) there is a foundraiser set up to finance the sequencing. A lot of Jay Lake fellow SF&F writers are donating an "Act of Whimsy" - a thing, a project they will do if certain fundraising goals will be met. It's already over 38K so a lot of "Acts of Whimsy" have been unlocked. It also created a small problem when the donations were submitted to Jay's PayPal account and PayPal promptly froze them suspecting fraud due to sudden influx of money. The thing was quickly resolved due to all those famous (or at least having a lot of followers, including those in tech world) friends who complained all over social media but it was an unwanted delay in a process that was all about speed.

The "Acts of Whimsy" are out there to enjoy and more will be coming and they are awesome. You can still donate to see more of them and help Jay or at least some future scientists and patients who can benefit from the knowledge gained from sequencing his cancer.

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