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A new study analyzed the DNA of an entire family of four for the first time. The study was made possible by cheap sequencing from Calif.-based Complete Genomics, which offers sequencing for a mere $5,000 per genome.  (Source: ABC News)
Someday soon your family might be able to get its genome sequenced too

The Institute for Systems Biology (ISB) and the University of Luxembourg have published an intriguing new study in the journal Science, in which they detail the genome sequencing and analysis of a family of four humans.  The sequencing marks the first time a family of four has had their genomes sequenced, and follows many individual sequencing projects over the last decade.

David Galas, PhD, a corresponding author on the paper who works at the ISB, says the work offers a glimpse of how family genome sequencing could aid in identification and understanding of disease.  He states, "We were very pleased and a little surprised at how much additional information can come from examining the full genomes of the same family.  Comparing the sequences of unrelated individuals is useful, but for a family the results are more accurate. We can now see all the genetic variations, including rare ones, and can construct the inheritance of every piece of the chromosomes, which is critical to understanding the traits important to health and disease."

Currently, genome sequencing prices have been plummeting thanks to better techniques and equipment.  In 2007, the cost was around $1M USD -- in 2008 Applied Biosystems of Foster City, California sequenced the genome of a Nigerian man for only $60,000.  In 2009, Complete Genomics, based in Mountain View, California, claimed it could read entire human genomes for $5,000.  

Nonetheless, the number of complete genomes sequenced remains relatively low.  The X Prize foundation has offered a $10M USD reward to the first person or firm that can sequence 100 human genomes in less than 10 days for less than $10,000 each.

The new sequencing project at the ISB emphasizes the benefits of sequencing for the masses.  ISB and the University of Luxembourg actually partnered with Complete Genomics to complete the sequencing.

The sequencing allowed the identification of genes related to two genetic disorders that the children had -- Miller syndrome, a rare craniofacial disorder, and primary ciliary dyskinesia (PCD), a lung disease.  In the case of Miller's syndrome, the sequencing allowed the number of candidate genes (genes that might cause the disorder) to be reduced to four.

ISB President Leroy Hood, MD, PhD, comments, "An important finding is that by determining the genome sequences of an entire family one can identify many DNA sequencing errors, and thus greatly increase the accuracy of the data.  This will ultimately help us understand the role of genetic variations in the diagnosis, treatment, and prevention of disease."

Another exciting result from the study is the first direct measurement of the intergenerational mutation rate.  The researchers found that the rate works at half the rate predicted by researchers, hinting at a potentially slower pace of human microevolution.  

Concludes Professor Galas, "This estimate could have implications for how we think about genetic diversity, but more importantly the approach has the potential to increase enormously the power and impact of genetic research.  Our study illustrates the beginning of a new era in which the analysis of a family's genome can aid in the diagnosis and treatment of individual family members. We could soon find that our family's genome sequence will become a normal part of our medical records."



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RE: in the future
By porkpie on 3/11/2010 1:59:04 PM , Rating: 4
" This just wreaks of a new way to control our lives"

"Reeks", perhaps? Your statement sounds suspiciously like those Luddites who said the internal combustion engine was far too dangerous an invention to allow the common man use of.

Understanding (and eventually adjusting) the human genome will indisputably be the number one technological advance of the next century. For mitigating and curing disease, and improving health, happiness, and even eventually lifespan, progress here is key.

As for the notion that businesses will refuse to hire those predisposed to higher health care costs, that's rather silly. The cost of health insurance- even for those at higher risk of certain diseases- is still a small fraction of the total amount a business spends on an employee. If you're a valuable employee, you'll have a place. This even assumes the business is paying your healthcare in the first place...even large corporations today are asking employees to pick up an increasingly large percentage of their own healthcare costs.


RE: in the future
By xkrakenx on 3/11/2010 2:04:27 PM , Rating: 4
maybe they just watched gattaca

dont worry buddy, you can still game the system and get your spot on the space mission.


RE: in the future
By ksherman on 3/11/2010 2:34:26 PM , Rating: 2
I was hoping to become Jude Law at some point.


RE: in the future
By fcx56 on 3/11/2010 5:02:01 PM , Rating: 3
Paralyzed and suicidal?


RE: in the future
By rikulus on 3/11/2010 3:33:26 PM , Rating: 3
They'll still hire you, and you'll still get health insurance. The health insurance company just waits until you actually need treatment for the disease, then say: oh wait, you had a genome sequencing before your coverage started which showed you would get this disease... so, we're going to consider that a pre-existing condition and not pay for any treatment.


RE: in the future
By porkpie on 3/11/2010 3:42:05 PM , Rating: 4
By today's laws and technology, no such outcome is possible. In the future? Who knows.

Just as a hypothetical, let's consider a future where the technology is much more precise. Assume you're sequenced at age 25, and the results say you'll definitely get cancer in the next 10-15 years. No question about it.

You do nothing for ten years. Then, mindful of the warning, you go out and purchase health insurance. A year later, you're diagnosed with cancer. Should the insurance company pay your cancer treatment bills?

If you answer yes, also explain how this is different from attempting to purchase auto insurance to cover an accident after you've already had it.


RE: in the future
By tygrus on 3/11/2010 8:37:10 PM , Rating: 3
The DNA tests may show indicators of increased risk but cannot say absolute if and when. If you know the risk, will you go out and try to change lifestyle (diet & exercise), monitor or medicate to counter the risk? Will the insurance reward you for reducing the other risk factors and does early treatment reduce long term costs (avoid heart surgery, diabetes complications etc)?

If the test is done early enough, can 10+ years of paying premiums cover the increased risk? I can understand not paying claims within 2 years after knowing increased risk for 10 years. More than 66% are going to eventually die of cardiovascular or cancer. Even then, a large proportion of those who have an increased CVD/cancer risk may die earlier of other causes (thou this may be reducing).


RE: in the future
By MadMan007 on 3/14/2010 2:00:15 PM , Rating: 2
Not too hard: in one case you have insurance before the 'accident,' in the other case ou don't.


RE: in the future
By JediJeb on 3/11/2010 4:57:25 PM , Rating: 2
quote:
Understanding (and eventually adjusting) the human genome will indisputably be the number one technological advance of the next century. For mitigating and curing disease, and improving health, happiness, and even eventually lifespan, progress here is key.


When they can increase lifespan, will we then be required to work longer before retirement? How fast will the population increase once we can cure so many diseases?

For every upside, there is usually a downside to be dealt with. I'm not saying I hope it doesn't happen, I would like to be around when we can finally have space travel and such, but just asking the questions that need to be asked.


RE: in the future
By porkpie on 3/11/2010 5:35:40 PM , Rating: 3
"When they can increase lifespan, will we then be required to work longer before retirement?"

No one is legally required to work. The government simply won't provide for you until you reach a certain age.

"How fast will the population increase once we can cure so many diseases?"

In nations such as Japan, Russia, Germany, Poland, Hungary...population is decreasing, not increasing. In other nations, the old 1960s zero-population-growth fallacy is luckily dying away. More people is, in general, a good thing, not bad.

In any case, the notion that its better to let sick people die than cure them, just to control population growth, is rather horrifying.


RE: in the future
By shin0bi272 on 3/11/2010 5:51:29 PM , Rating: 2
quote:
In any case, the notion that its better to let sick people die than cure them, just to control population growth, is rather horrifying.


That's eugenics... a policy developed by the progressives in the early 1900's and co-opted by the nazi's. Its probably also why a lot of people are a little worried about the government running health care in this country.


RE: in the future
By croc on 3/11/2010 8:11:25 PM , Rating: 3
I'd be even more worried about the health insurance/pharma companies running health policy.


RE: in the future
By Kim Leo on 3/12/2010 6:04:16 AM , Rating: 1
You shouldn't take what Glenn Beck says seriously, he has an agenda and currently it's going after progressives. Eugenics wasn't a Progressive invention.


RE: in the future
By porkpie on 3/12/2010 9:41:30 AM , Rating: 2
I don't know what Glenn Beck may have said on the subject, but your history is quite wrong. Eugenics sprang out of Social Darwinism and the Progressive Movement..the same folks who advocated replacing laissez faire capitalism with the "managed capitalism" we have in the US today.

The Progressives claimed that Eastern Europeans (the primary source of US immigration at the time) had defective genes. With a wealth of data and scientific reports, they claimed they would 'solve the problem' through sterilization of individuals with defective germ plasm, and lead us to a new era of 'scientific management' of human problems.

So please, don't attempt to rewrite history to fit your political goals.


RE: in the future
By Kim Leo on 3/12/2010 10:03:12 AM , Rating: 2
I'm not trying to rewrite history, I said it wasn't a progressive invention and I stand by that, there might have been progressives supporting it at one time or another, but so did someone very much to the right(Hitler) if I had a political agenda I would say it was a conservative invention, I don't believe that either, so please don't put words in my mouth.


RE: in the future
By porkpie on 3/12/2010 11:01:50 AM , Rating: 2
"there might have been progressives supporting it at one time or another..."

Progressives were the originators of the movement, and the first to promote Eugenics as a serious alternative. Don't shy away from the facts because you don't like them.

"...but so did someone very much to the right(Hitler)"


Hitler was not "very much to the right". His initial power base was populist: workers unions and the lower middle class, and his early campaign platform was predicated on socialized control of big business and finance, centralized planning, and other standard elements of liberal philosophy. Strip away some of the militant nationalism, and Hitler's rhetoric was identical to the progressive movements in the US and Europe at the time.


RE: in the future
By shin0bi272 on 3/11/2010 6:08:20 PM , Rating: 2
Thanks I knew I should have proofread that a little better.

I dont dispute that the genome project will lead to better care. My issue is how that care will be issued and/or rationed should we be living under a government run system or even under a private system that can deny you treatment if you're predisposed to a certain disease or maybe even alcoholism. Alcoholism wont kill you immediately but it will lead to lower production and missed days of work and who wants to hire a drunk who doesnt come to work? If you know ahead of time that someone is going to be like that would you hire them? Maybe if they are the only applicant who's qualified but if there are 2 people equally qualified and ones a drunk and the other doesnt drink or smoke and has no allergies or predispositions who would you hire?

I'm just saying there are downsides to most developments in technology like this. Guns are great for self defense and hunting food... but they also kill innocent people and are used for other crimes. Couple the use of the genome to detect disease with a bureaucrat that decides who gets what treatment and you will end up with a lot of people being denied treatment.

There was a guy on the news today who lives in canada and has brain cancer. After 6 months of fighting with the canadian government he finally came to the us where he learned that his cancer had spread to unreachable parts of his brain. He got surgery to remove everything they could get to here at the mayo clinic and was prescribed medication for the remaining tumors... a medication that was denied by the canadian government. So after denying him the operation earlier which caused him to need the medication and leave the country to get an operation to save his life on his own dime they then deny him the medication after the fact!

If the same thing were to be applied to a genetic disorder discovered with this technology would that guy have ever been allowed insurance if an overbearing government dictates that everyone must be sequenced at birth and he was found to be predisposed to cancer? If he was given insurance would he pay a higher premium or would he pay the same premium as everyone else and be one of the reasons everyone's health insurance costs are so high?

There's a difference between fearing new technology and fearing a massive government using new technology to "weed out the undesirables" as they wanted to do in the 20's and 30's with eugenics.


RE: in the future
By porkpie on 3/11/2010 6:27:54 PM , Rating: 2
"if there are 2 people equally qualified and ones a drunk and the other doesnt drink...who would you hire?"

Let's assume I'm hiring for a airline pilot position...or maybe just a bus driver taking schoolchildren home. Now, the fact that I can weed out a drunk before hiring doesn't seem so nauseating, does it?

I agree fully with your points about socialized health care. But in the private sector, I see this as being nothing but an unqualified good.


RE: in the future
By Myg on 3/13/2010 7:31:25 PM , Rating: 2
Alcoholism is the result of a set of bad choices, just as the cure to it is a set of good choices. People may have predispositions to weakness, but they have the power to chose to stop and to avoid them also. Its just easier to call it a disease and let it be, because then it will be more convenient to deal with them.

A problem is though, that the willpower that is required to overcome such a thing through sheer choice requires suffering to cultivate; and who really suffers anymore?


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