Saturday, February 16, 2008

Gene Genie is Back at The Sherpa!

There are many posts that were submitted. I have to say, we are doing a good job of covering these genes, but probably won't get through them all. I am excited about a ton of this content. But when we move through genetic discovery, talk always falls back to personalized medicine. I have been trying to move away from this term lately. And so has the American College of Medical Genetics. I like the term Genomic Healthcare. It's simple and expresses what is going on today and what will continue for the next decade or two.

So without much ado let's get started!

First the basic science. It is on the shoulders of these giants which Sherpas like me stand when we implement the clinical action. We are all different, every single one of us unique. What makes us this way? Well Yann Klimentidis shares with us some of his thoughts on the SNPs and genes that may make each population special. How can we trak what population you are from? Well, one good way is through mitochondria and now we have a more visual way to look at the mitochondrial genes. Made by a "mitochondrialist" (I would love to see what that conference looked like) the MitoWheel is poised to help those who need just a little more visual model.....May the Force Be With You.

At least if you have blue eyes, then things are looking up. Blaine over at Genetic Genealogist covers that family tree. Now I bet Tom Cruise doesn't feel as special anymore.

Other things make us special. The stuff with which we arrogantly called junk, including introns is proving to make us pretty special. Larry at Sandwalk elegantly covers some of the hot topics in Intronic Junk. This makes him the Tony Soprano of genetic waste management! Nice post.

It's not all about the Homo Sapiens. Even birds get their say at GrrlScientist where the argument for earlier flight is posed. Not really a gene post per se, but it is a Rock vs DNA clock battle. Speaking of evolution, what makes a fish go blind and how do they get that sight back? Greg Laden's blog will show you how. Better blind than dead, but if I have to go, I would like to skip the Black Death. Especially after reading Archeozoology's coverage of the Yersina Pestis Genome. Well maybe I will eat myself to death...or a higher level of evolution. Nature Blogs cover the Big Mac controversy. Nature versus Nurture debate will never end!

So how do we take this to the road? How can we translate these unique findings?
First we have to educate the physicians and get them up to speed. But can we do it? I will be presenting at the Association of Program Directors in Internal Medicine precisely on this topic. The blog PredictER gives some insight as well. Some may say we should just bypass physicians, let's here about our Genetic Future. After that good laugh we can head to Berci Mesko at Scienceroll and find a "23 and Me Hacker" who has created a pretty useful tool to help.

We all know that these technologies will only continue to improve. Unfortunately most MDs don't have the time to keep up. Here's a hint for them....Visit the Gene Genie, which will be at Sciencebase next.

For those who need a quick set of new tests!
deCode first with the PrCA gene, cute fellas, real cute. Hsien and Ramunas both cover this one.
Soon we won't need all of these tests. Especially if the 1000 genomes projects get things scanned quickly. I am certain all sorts of novel technology will be created. This will shake things up.

Until that day we have Family History. I was with a patient and one of our geneticists today. When a patient asked him how many patients he had seen he said "I have been doing this counseling before they even had the test." In heart attack land, family history is still the king predictor of MI risk. But I doubt that the company selling the Kif6 test want you to know that. Well maybe someday I will show up on the WSJ health blog too.....

Thanks to all those who submitted. I hope you enjoyed this. Thanks to Ricardo at MyBiotechLife for the excellent logo!


Berci Meskó said...

We did, Steve! Thank you for this nice collection! I hope you would host again in 2008. :)

Anonymous said...

Quote: "Until that day we have Family History"

I know of a person that is starting a business that will be dealing directly with all family history issues and topics (migration, economic, health, careers, etc).

This business will detail diseases and disorders that are present in the family. This person wants to hire a genetic counselor so the business can do risk calculations.

The information that is given to the client can be taken to their health care provider.

Steve Murphy MD said...

Have you been talking to my partners?

Steve Murphy MD said...

Thank you. Of course I would love to host again.

Anonymous said...

Quote: "Have you been talking to my partners?"

Not sure what you mean by this. The business this person is starting would have nothing to do with a partner that you would have......its not one of the personal genomic companies (its a geneaology company).

Steve Murphy MD said...

Who says I am a one trick pony?