Thursday, February 21, 2008

Shaking Chills, Houston Texas and 1000 USD

I couldn't figure out whether I was hallucinating from the fevers or if the email I received from a reader was correct. He said "Could you explain this to me, from 350k now to 1k? How could this be"

He was of course speaking about the PacBio (Like Pacific Sunwear/PacSun) technology and press release that Reuters put out there. Man why can't I get on Reuters at the drop of a hat?

From the release
" A California company predicts it will soon be able to sequence an entire human gene map in four minutes, for just $1,000."

"It will change health care forever if it works," Hugh Martin, the chief executive officer of the company, said in a telephone interview on Monday

Martin thinks Pacific Biosciences' new technology will be able to get a human genome done in about 4 minutes.

Yes, my wonderful readers. These are the key words in this news release. From that tone, it sure doesn't sound like a finished deal yet! There are several things to consider with this new technology including the cost to implement and its fidelity of genome analysis. But don't be surprised if someone builds a better mousetrap soon. But the short answer is....Genome for a Grand? Don't hold your breath.

That being said....I want to re-emphasize the benefit of directed testing. This is a good market and now DNADirect it appears has a direct competitor. DNA Traits dot com is a place where you can get free genetic counseling. At rock bottom prices of 75/hr at DNA Direct I am flummoxed on how they actually pay their counselors. Now you go and say that their service is so insignificant that it is FREE? Come on....where is the business plan here? Some way they have to be making a profit...Dr Bettinger covers this company very nicely on his blog.

Their list of advisors includes a Critical Care Medicine/Population Geneticist. Great for geneaology....."Doron Behar has multi-year background experience in the development of genetic testing for the public using a direct internet based customer approach." It appears he IS a mitochondrialist! Unfortunately on the site I couldn't find the names of the genetic counselors willing to work for free :(

The website even has the DNA Direct feel to it. Interestingly, now I may have figured out where my Houston readers are coming from. Houston, Redwood City, Mountain View, Cambridge, San Fran, NY, DC these are all my hotspots for daily readers. I wonder why.

Lastly I saw a quote from Dr. Bruce Korf. I will email Dr Korf today and as how he feels about his name on the DNA Traits site.

DNATraits agrees with the recommendations set forth by the American College of Medical Genetics in their Statement on Direct-To-Consumer Genetic Testing. In this statement, Bruce Korf, MD, PhD, says, "It is critical that individuals ask for a referral to a genetic expert who can help in determining what tests might be advisable and in interpreting results."

More importantly, if testing is even advisable at all. I have some difficulty with FREE counseling without stating what those counselors are actually working for. I hope it is not commission......

The Sherpa Says:
No I am not hallucinating. The genetic and genomic market just got a little more crowded. Once again.....I ask that we make informed decisions regarding our testing and get some professional advice. FREE advice is just that. Even a free initial eval should be followed up with care that is paid for. As for an MD only reviewing POSITIVE results...what about the Maybes? Is a Negative really a negative? I would want an MD to review all results. Why? Because it is just good care and should be the standard of care. We can't cut corners in genetics, no matter how stretched we are. This goes true for a sodium level or an extremely complex genetic test.


Anonymous said...

I work for Reuters as a consultant.

Steve Murphy MD said...

That sounds nice. Is it interesting?

Misha said...

Chicken soup...the universal cure. Hope you feel better,