Baby's DNA fully sequenced in 50 hours.

Capt'n Midnight

http://www.bbc.co.uk/news/health-19812067

The whole of a baby's genetic code - genome - was sequenced, analysed and the results given to doctors within 50 hours in intensive care units at Children's Mercy Hospital, Kansas City.

Tree

Gwan the technological advancements! As soon as we have the $100 genome we can start on the ones that arent in ICU too!

doctoremma

Not to piss on anyone's chips but they *only* did 500 odd DNA fragments, corresponding to well-known and common mutations. I read data from entire genomes and it takes weeks to identify a handful of novel candidates for the disease, with a significant amount if research required to determine which might underly the problem.

Don't get me wrong, it's a fab tool but only a diagnostic one. Nothing that will further our understanding of genetic disorders.

On the second post, I am currently preparing lectures for medical students on the ethics of personal genome information, especially in the current climate of increasingly cheap tech and the demand for control over ones destiny. It will happen - of course it will - but I'm not convinced it's something to welcome.

Tree

I heart diagnostics, so i'm happy with new tools, especially when you can't have the assay for every potential condition to hand. The privacy issues with whole genome sequencing is a whole other ballgame, but as a diagnostic tool it could be very powerful.

cookie1977

I can see it now. Roll on the insurance companies requesting access to that info. Or at the very least if you do a screen and now know everything, you'll have to declare it on their forms for life or mortgage insurance.

Otherwise it is great to see this a) come down in cost and b) be so rapid.

Capt'n Midnight

cookie1977 wrote: »

I can see it now. Roll on the insurance companies requesting access to that info. Or at the very least if you do a screen and now know everything, you'll have to declare it on their forms for life or mortgage insurance.

Otherwise it is great to see this a) come down in cost and b) be so rapid.

I could be wrong by my understanding is that in the EU insurance companies can't discriminate on the basis of genetics.

With lab on a chip technology it's just rushing in
http://www.bio-itworld.com/news/02/17/12/Oxford-strikes-first-in-DNA-sequencing-nanopore-wars.html

Brown laid out the prospect of achieving the $1,000 genome in 2013 in under an hour by harnessing 20 GridION nodes working with a second-generation nanopore array.

cookie1977

No you're right currently they can't. But I'm sure they're already lobbying for access to it.

Capt'n Midnight

cookie1977 wrote: »

No you're right currently they can't. But I'm sure they're already lobbying for access to it.

To put it in perspective the costs of full genome sequencing are comparable to health insurance premiums. In future they will be less.

With more of the population sequenced cross indexing health issues with genes should save money long term because early detection reduces treatment costs. It's really about the economics, and the main counter argument is that it's cheaper to let people die undiagnosed

In the US couples have been told by insurance companies that any child born with certain genetic markers won't be covered. :mad:

cookie1977

Capt'n Midnight wrote: »

To put it in perspective the costs of full genome sequencing are comparable to health insurance premiums. In future they will be less.

With more of the population sequenced cross indexing health issues with genes should save money long term because early detection reduces treatment costs. It's really about the economics, and the main counter argument is that it's cheaper to let people die undiagnosed

In the US couples have been told by insurance companies that any child born with certain genetic markers won't be covered. :mad:

'The Lord giveth and the Lord taketh away'

In some ways though while gene analysis may be good it could also throw up issues which may never be realised if they weren't detected. It's sort of like when people go in to hospital for one thing or another and maybe they have ct or mri scans which detect anomalies which would never have caused an issue but suddenly become the focus of possible problems.

(hmmm that sounded better in my head then typed out)

One good thing I can see out of it though is carrier pairing. We can hopefully warn diseases carriers of the risks they could have when having a child. Like with CFTR carriers.

josey_whale

Just seeing this now. Not really surprising though. Next it will be a report on the complete genome on an unborn child. This is technically feasible.

The big question with this technology is how we secure the data?

Also, with advances in the cost of sequencing, what of surreptitious analysis of peoples genomes?

Capt'n Midnight

josey_whale wrote: »

Also, with advances in the cost of sequencing, what of surreptitious analysis of peoples genomes?

http://www.irishtimes.com/newspaper/frontpage/2012/0303/1224312717912.html

The National Newborn Bloodspot Screening Programme, using a heel- prick (or Guthrie) test, has been used in the State since 1966 to screen for rare genetic disease.

The bloodspot samples are stored on a card at the Children’s University Hospital Temple Street with the child’s and mother’s details. Most samples before 1984 were destroyed by water contamination.

not sure if they have actually destroyed ones more than 10 years old yet