11
Mar
10

The family genes

I’ve written several posts about how there’s been a lot of criticism this year of the meager results of gene sequencing in finding therapies for diseases. The genetic keys to diseases have proven elusive to the point there has been discouragement in the field. But there’s perhaps a more positive note in today’s NY Times about two studies being published in journals on Friday. For the last decade the operating assumption of genetics and disease is that common diseases like cancer come from common mutations in genes. But a lot of tests on the connection between genetic mutations commonly seen and common diseases was not strong. Instead the conclusion has been emerging that diseases are really linked to rare mutations. So all those news headlines you’ve seen over the last 10 years of so that declare “gene for depression found” were wrong. It’s not that simple.

For three diseases — Charcot-Marie-Tooth disease, Miller syndrome and ciliary dyskinesia¬†— it turns out that the genetic inheritance comes from more obscure genetic changes by way of Mendelian family inheritance. The studies sequenced the whole genomes of not only the children with expressions of the disease but the parents as well. So they got what you might call the whole-family genome. Identifying diseases that manifest differently depending on the mix of genes coming from mom and dad means that the genomes of the whole troop might be needed.

Fortunately the cost of doing a whole genome is dropping, fast. Complete Genomics of Mountain View, Calif., did the genomes in one of the studies at $25,000 each. That’s a whole lot better than the $3 billion for the first genome ten years ago. They’re promising the $10,000 genome to be followed by the $5,000 genome. Remember, the holy grail is $1,000.

I said in my previous post about the 21st century medical model that our personal health record will need to contain our whole genome. This suggests that linking the genomes of the rest of the family will make the assessments of lifetime disease risk a lot better.

Reblog this post [with Zemanta]
Advertisements

0 Responses to “The family genes”



  1. Leave a Comment

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s


Umm, Delicious Bookmarks

Archives

RSS The Vortex

  • An error has occurred; the feed is probably down. Try again later.

%d bloggers like this: