In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis (ieee.org)

the_newsbeagle writes: Parsing the first human genome took a decade, but times have changed. Now, within 26 hours, doctors can scan a sick baby's entire genome and analyze the resulting list of mutations to produce a diagnosis. Since genetic diseases are the top cause of death for infants (abstract), rapidly diagnosing a rare genetic disease can be life-saving. The 26-hour pipeline results from automated technologies that handle everything from the genome sequencing to the diagnosis, says the doctor involved: "We want to take humans out of the equation, because we're the bottleneck."

Comments

That cuts both ways

[damn_registrars]

If the insurance pays for a full genome scan, they will want to see the results. And then before you know it, they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage for them once the newborn is home.

Yeah, it's great to know the information, but it sets you up for a lifetime of getting fucked by the insurance companies (not that the 2010 "affordable care act" didn't set that up regardless).

Re:That cuts both ways

[beelsebob]

Simple solution - socialise your healthcare.

Re:That cuts both ways

[jedidiah]

...although it did nullify the "pre-existing conditions" problem.

So we don't have to force everyone to be stuck with the crapulence of Medicare, Medicaid, Disability, or the VA in order to solve this particular problem.

As someone with such a condition, the LAST thing I want is to be in the clutches of any sort of American variation on socialized medicine.

Re:That cuts both ways

[Anonymous Coward]

Yeah there are some ethical reasons not to have a compulsory genome sequence for every newborn in 2015 but the benefits would be amazing. Diagnosis of childhood ailments is just one of them. (Baby mix-ups would be a thing of the past too)

But do you know the real reason we don't do it?

Every time a program like that has been tried a very very uncomfortable fact always becomes clear very fast - The father listed on the birth certificate often doesn't match the genome scan. Something to the tune of 15-30% of the time, even in the nice middle-to-upper class white suburban hospitals where such things get trialed.

We humans like to sleep around a lot. We just don't like to admit it.

Re:That cuts both ways

[Anubis IV]

before you know it, they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage for them once the newborn is home.

That's illegal under the 2008 Genetic Information Nondiscrimination Act, which prevents insurers from using genetic predispositions in the determination of insurance coverage/premiums.

Re:That cuts both ways

[Terwin]

Simple solution - socialise your healthcare.

Having seen how thoroughly the US government has botched other social programs, and the amount of bureaucratic over-head caused by every congressperson trying to get cut-outs for their donors(and occasionally for their voters), I cannot see US socialized medicine as a viable option.

Other countries have managed to do this with more or less success, but so long as the US government continues to treat its citizens as enemies, those citizens are unlikely to (and probably should not) trust that same government to have control over their health care.

Perhaps once politicians and bureaucrats have won the trust and support of the American people we can have a rational discussion about socialized medicine in the US, but most of them have not been working in that direction in a very long time...

Re:That cuts both ways

[knightghost]

Crapulence? Methinks you have zero experience with it. I've worked internationally (including several years in Canada) and socialized medicine is better quality yet half the total cost for 95% of citizens. Capitalism doesn't work when you can't shop around... and even if you could, how long will you shop around and ask for quotes while you're child is screaming bloody murder due to a broken arm? Medicine and Capitalism are oil and water.

Re:That cuts both ways

[Qzukk]

I've always been curious how things would have turned out if some kid had broken Bastiat's leg instead of his window, because a large portion of the money spent on healthcare is nothing but maintenance as Bastiat would have seen it.

Re:That cuts both ways

[Opportunist]

Living in a country with socialized heathcare, I can say with some certainty that people may have different opinion on many things around here, but if you dared talking about taking it away, you could as well try to teach creationism in schools. The effect would probably be the same, people of all political parties would demand to have you removed.

Not from office. From the gene pool.

Re:That cuts both ways

[Quirkz]

15-30% seems high. Something I was reading recently suggested 5% was more typical. Struggling to remember my source - possibly the book "Before the Dawn"?

Resuming your reply in a single word:

[Anonymous Coward]

"Gattaca"

Re:Rapid diagnosis can be life-saving.

[tnk1]

All health care is eventually a black hole that you throw money down and have it disappear. I don't think we should really be in it for the profit angle.

On the other hand, I don't want the government in it. Not because I don't want people to get "free" medicine, but because I think the government will screw it up, or worse, obtain control over the lives of the people who are supposed to be keeping it in check. It will constantly be a battle between people who are trying to give more and more away to keep getting elected, and people who try to "reform" the programs with a giant sledgehammer.

The jail / prison covers pre-existing conditions

[Joe_Dragon]

The jail / prison covers pre-existing conditions and I think at most all you have pay it you can is a $3-$8 copay.

Also the The jail / prison covers stuff that the ER does not and free room + board is on the side.

Re:Rapid diagnosis can be life-saving.

[alvinrod]

Everyone eventually gets sick and likely ends up soaking up huge medical bills. You could be perfectly healthy all your life but still wind up with cancer and an expensive treatment.

The only alternative is some kine of Logan's Run approach, but I don't think anyone will be lining up for that.

What you fail to consider is that what is expensive as hell today, will only get cheaper in time as technology improves. In 200 years, curing cancer might be as easy as taking some over the counter medication that's cheaply available. Look back at the biggest killers from 200 years ago and we've eliminated a lot of them or made it relatively inexpensive to deal with them. The difficult problems now are next centuries low hanging fruit and we don't get to that point without spending a lot of resources to solve those problems.

Yet the ACA is FAR better than what we had

[fyngyrz]

it made many things much worse

It was definitely a corporate handout by congress (and also, not what Obama asked for... hence I never call it "ObamaCare"), but it also definitely made some things better. I know quite a few people who have healthcare for the first time in many years, some of them with pre-existing conditions, others who simply couldn't afford it. Care ranging from from a CPAP mask to a much-needed case of testosterone therapy. In fact, if it hadn't been for the malfuckery of the Montana republicans, who callously shot the legs out from under the ACA by bitch-screwing the medicaid expansion for years, it would have done even more.

Next year - assuming no further malfuckery on the part of the various Kochsuckers out there, one 62 y/o lady I know who is both diabetic and a breast cancer survivor, is going to have decent, continuous medical care for the first time in her life. Her breast cancer costs were covered by a vertical breast/cervical treatment program, and she's 10+ years out now, so that's good, but as she points out, if it had been liver cancer, she would have had no viable options at all. Now she will. Hopefully. If the ACA hadn't been so adroitly interfered with, she would have already.

So while I'm totally on-board with "could have been a lot better", the way it was prior to the ACA... that was a whole damn sight worse.

Really

[fyngyrz]

Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

As a poster-child for the counterpoint: Stephen Hawking

Evolution and natural selection for stronger individuals is a thing. Has been a thing. But in no way does that imply that we can't make decisions for ourselves now that we have some idea what we're doing. That's without even considering the fact that we're going to be able to fix all this stuff in fairly short order, in terms of evolutionary time scales, so your worries about the "trend" are truly pointless.

Re:Is it just me?

[Aqualung812]

Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

That is an extremely short-signed view.

I thought ST:TNG did a good job of explaining this in both "The Enemy" and "The Masterpiece Society": The technology used to help a blind baby see was adaptable to other solutions where otherwise "unfaulty" people would benefit.

A review of key historical figures will reveal many with physical issues from birth.

The ability of a person to contribute to society, directly or indirectly, is impossible to predict.

Health care [Re:Rapid diagnosis can be life-saving

[Geoffrey.landis]

On the other hand, I don't want the government in it. Not because I don't want people to get "free" medicine, but because I think the government will screw it up, or worse, obtain control over the lives of the people who are supposed to be keeping it in check. ...

Unfortunately, the one thing worse than having government involved is having the government not involved.

Health care is an economic case where the assumptions that make a free market efficient don't apply. When providers have the ability to literally say "pay what we ask or die... and decide right now," there's not a lot of economic leverage available. And, worse, people making these decisions are often sick, in pain, unconscious, woozy from painkillers, or in the grips of Alzheimer's disease, and can't shop around. Unless they have insurance. But the insurance company's profit comes from kicking people off of the insurance if they get sick. The insurance companies that are most successful in figuring out ways to terminate coverage of people who are sick out-compete the ones who don't. After a while, all of the insurance companies do this-- the ones who don't go out of business.

As a society, we have made a decision that we don't think it's right to turn people back at the emergency room just because they can't pay. So, one way or another we are paying for the health care of people who can't pay. The only question is, are we going to do this in a thought-out way? Or in a makeshift, not-thought-out way?