Genomes of an entire family sequenced in world first

A very interesting story. I would love to have the money to be able to have my genome sequenced to see what i am at risk of in the future.

The family of four is unusual because the parents are healthy but both son and daughter have two rare inherited medical conditions that cause facial and limb malformations and lung problems.

Mutations in "recessive" genes are responsible for these conditions, meaning that in each case the children must have inherited a defective copy from both their mother and their father to get the disease.

Scientists at the Institute for Systems Biology in Seattle sequenced the entire genomes of all four family members and used the information to pinpoint four genes that might be responsible for the diseases. Mutations in two of the genes were later confirmed to be the cause of the diseases. The breakthrough, reported in the journal Science, gives researchers a powerful new tool to track down quickly the defective genes behind almost any disease that is caused to a significant extent by genetic glitches.

www.guardian.co.uk...

What effect will this kind of development have on treatment? Medical Insurance? Drug development?

Genome sequencing expenses are going down very rapidly, new technological improvements are made every year.

This means we are getting closer to personalized medicine. Not only can some doctor study your genome for any problem you may have in the future, but also plan better drug doses according to how you metabolize a certain drug by seeing what variety of enzymes you have.

Just an example, I'm sure there are many uses for these developments. Some of them unethical, I'm sure.

[edit on 10/3/2010 by kingsnake]

In short, my genomes are my own.

If I am to get ill, or die, so be it.

Life is one big adventure, so why worry about what "MIGHT" happen in the future?

It really annoys me that people have become so shallow, self-obsessed and insecure that stories like this even exist.

If I was to be told tomorrow that I might have the potential for heart disease in the future, it wouldn't make me change anything.

I am living my life, and doing it as I want it too. I'm happy, and enjoying life. So, even if a genome sequence analysis becomes available to me, I won't be having one. I'm happy as I am, and I'll go when I go.... in the mean time, I'm going to have a laugh, lots of fun, and make people smile while I do.

Peace.

reply to post by dampnickers


Yeh fair point. I still think it would be helpful to know, just so you can be aware of any risks your kids may inherit if nothing else.