Tuesday, January 13, 2009
No I don't spell my name with a ph, but that is just one of a few differences I have with Dr. Stephen Pinker(Erratum, turns out he spells it with a V, just like me. My Mistake) , one of the PGP 10. His article that I read on Saturday online is now being read by millions in print.
Steven and I both are participating in Genomic Research. I haven't told many people, but I am a participant in the Coriell Personalized Medicine Collaborative. So I read his article with curiosity. Not only because he is a developmental psychologist, but also because he (like me) thinks that most behavior is inherited.
So I wondered how his response to having his Exome released would further "shape him".....and thus when my results come in how will they "shape me".
"All this sets the stage for what we can expect from personal genomics. Our genes are a big part of what we are. But even knowing the totality of genetic predictors, there will be many things about ourselves that no genome scan — and for that matter, no demographic checklist — will ever reveal. With these bookends in mind, I rolled up my sleeve, drooled into a couple of vials and awaited the results of three analyses of my DNA."
He preceded these comments by stating in essence that Genes aren't everything, but they are a whole lot....
Then he explains the probabilistic view...
"Only a portion of my exome has been sequenced by the P.G.P. so far, none of it terribly interesting. But I did face a decision that will confront every genome consumer. Most genes linked to disease nudge the odds of developing the illness up or down a bit, and when the odds are increased, there is a recommended course of action, like more frequent testing or a preventive drug or a lifestyle change. But a few genes are perfect storms of bad news: high odds of developing a horrible condition that you can do nothing about."
I imagine mine will hopefully be the same. I have family history of BRCA mutation but that won't be seen on my CPMC scan......
But then he reveals the name of a company which makes me a little suspect of those ties...
Counsyl.....a company to perform universal carrier screening.......interesting.....of 100 conditions!!!
What are they? From the site......
Counsyl has developed the Universal Carrier Screen: a simple, non-invasive, saliva-based test for more than 100 serious genetic diseases. The screen will soon be offered through our website and at some of the most prestigious medical centers in the country.
So I have to say.....can you imagine the issues with counseling 100 conditions? (more on this tomorrow)
And why does Pinker mention this? He understands carrier screening as he was screened for Ashkenazi Jewish Diseases which now approximately targets 16 diseases in some screens and 11 in others. But 100 diseases?????? The real question is now that we have PGD for alot of conditions.....what is the can of worms opened up.
As for me, I am a little suspect of the fact that he promotes this DTC carrier screening company in this article......It makes my promo meter go up. Now, listen, I understand that people promo things. But you should quantify it and let people know your association with it. In this article he neither says that he is or isn't affiliated with them.....I sure would like to know. He mentions 23andMe at least 4 times, yet Navigenics or DeCode are not mentioned at all....and what about DNADynasty? Hardly fair representation.....I wonder why?????
Even with this, he is certainly right about one thing
Assessing risks from genomic data is not like using a pregnancy-test kit with its bright blue line. It’s more like writing a term paper on a topic with a huge and chaotic research literature. You are whipsawed by contradictory studies with different sample sizes, ages, sexes, ethnicities, selection criteria and levels of statistical significance.
And then he says one thing that has me thinking.
The psychologists Lars Penke, Jaap Denissen and Geoffrey Miller argue that personality differences arise from this process of balancing selection. Selfish people prosper in a world of nice guys, until they become so common that they start to swindle one another, whereupon nice guys who cooperate get the upper hand, until there are enough of them for the swindlers to exploit, and so on. The same balancing act can favor rebels in a world of conformists and vice-versa, or doves in a world of hawks.
The Sherpa Says: This has me thinking whether the genomics world is full of nice guys.....or swindlers......I think it is full of the latter......Which means, it is now time for the nice guys to get together and win!