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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 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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