Thursday, June 12, 2008

Sherpa Hits San Francisco

Imagine rounding up everyone that is influential in the Genome Sequencing world on the science side, then add a healthy set of journalists, mix in a group of Venture Capitalists and put the leaders in corporate industry at a table to answer their questions. Including, the Sherpa!!!

This was a whirlwind tour, where I managed to meet with some pretty influential people in silicon valley. I introduced them to Helix Health of Connecticut and our plans for the future of Genomic Medicine. They introduced me to some people looking to make that happen.

Also I was involved in discussion and gave a talk to the group at Beyond Genome Conference, hosted by CHI. I also was asked to advise CHI on a novel educational initiative for them. I am honored. In addition I was able to meet with a good friend of mine and begin to prep for the Coriell meeting next Monday....whew!!!! What a crazy day!

Let's start with the Beyond Genome Conference. I must admit, that since my first crazy days of posting, I have grown fond of Ryan Phelan. The early readers often read about how I thought she was screwing up everything. Well, it turns out. Ryan is probably one of the most thoughtful people in this field.

She presented a wonderful topic at the conference. In it she expressed...."Not all genetic tests are made equal" I totally agree with her. Some are bogus and some are real!

Her talk made me feel that for the regulations, which are coming, she wanted them to be tempered accordingly to their usage. I agree....sort of. If the tests are for medical use, they should be medical. If they are for non-medical use i.e. eye color, height....they should not be regulated like medical diagnostics. Here's where I kind of differ. I think all tests that have anything to do with medical conditions, should have some sort of medical service associated. Much like my specialty's party line.

What amazed me about Ryan was how she broke this down, so eloquently, yet so simplistically. It was actually pretty elegant. I am truly impressed by Ryan. She has been at this longer than any other business. Not longer than any genetics program, but longer than any business.

And let's face it, she was the first person to put genetics in the public eye! That is always a great thing!

I also was amazed at how nice the people I have been shouting at accepted me.........I am certain Caesar felt the same way! The nicest of all was Dietrich Stephan. He even thanked me for publicly supporting him. Which I have in some forums. I think that if you are going to do medical....Do Medical. They are....but they need some brick and mortar to keep out of regulatory heat. Dietrich, if you read this, give me a call. I have an idea for you.....

I swear Linda Avey smiled at me. Even when I said that they had forgotten to address some of the key issues. But at first I was worried when she initially saw me......They could kill. even the CSO of DeCode was nice. I do disagree with some of the things he had to say. Including the power of SNPs versus things like LDL. Or the power of SNP testing to identify predisposition to Atrial Fibrillation.

If there were cardiologists in the audience, they would have laughed. You see. Afib is one of the most common diseases in elderly adults. In fact, a single snp doesn't predict for crap compared to risks like; large heart, high blood pressure, family history. In addition, the talk didn't even mention the score most DOCTORS use to predict risk per year of having stroke from atrial fibrillation.

This is called the CHADS2 score. In essence it is the BEST clinical predictor of stroke in atrial fib. It is also a great mortality predictor. My guess, the AFIB test will not be used. There is no cardiologist who will order this. As for a patient, they would be best suited to know their family history and make note of funny heart feelings. If the test were sold at about 50 USD then maybe it would be worth it. Why? Because, the minority of patients who don't feel their afib would be made aware.

But any more than 100 USD would not be cost effective. You would figure a big company worth tons of money would spend the time consulting a cardiologist or reading about other clinical risk predictors. I really am scared about this side of the business. Monetizing tests and marketing them without proving superiority or non-inferiority to the standard clinical tests could pose economic strain on the system. I do agree that it is a nice to have thing. But so is an echocardiogram or a CHADS2 score!

The Sherpa Says: My point, SNPs aren't everything and medicine has existed long before this new technology. So we need to integrate the 2. Not to try and replace the whole system with new and not completely evolved technology! Lastly, If we don't regulate the renegades in our group, we will only have ourselves to blame for the very STIFF governmental regulation. Lastly, thanks to those who gave me such a warm welcome. I just hope I won't be saying Et Tu Brute!

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