Tuesday, January 13, 2009

Another Steven (this time its Pinker) Comments on Genomics!


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!

5 comments:

Anonymous said...

His name is Steven Pinker, as you can see by Google. You made a mistake, and then repeated it multiple times.

Here is another mistake: for you of all people to accuse someone of "promoing" a company is ridiculous. This is an obvious case of projection. You are the one shamelessly "promoing" Helix Health of Connecticut in every forum. MDs like yourself clearly have a vested interest in setting up barriers. True or false, your revenue stands to decrease if personal genomics companies like 23andMe start to take off!

Do you really think you are more qualified to interpret genetic data than 23andMe's scientific advisory board! What discoveries have you made?

PS: I suppose Mr. Pinker is also "promoing" every researcher that he featured in the article. Oh wait. Maybe he just found them relevant.

Anonymous said...

Quote: "Do you really think you are more qualified to interpret genetic data than 23andMe's scientific advisory board! What discoveries have you made?"

Dr. Murphy is a doctor. He is more qualified to interpret medical-genetic data than any scientist is. To understand medical-genetic risks, treatment, and pointless information, you need to have the medical background.

Steve Murphy MD said...

@anonymous,
Thank you for reading the Gene Sherpa, where I educate physicians and the public about genomics and personalized medicine.

Thank you for fixing my mistake. Your comments do need some correcting as well.

"for you of all people to accuse someone of "promoing" a company is ridiculous."

I am not criticizing promo, I am criticizing perhaps a lack of transparency. In academia it is called declaring conflicts of interest, something the media has been failing to do for the last 20 years....Which is why they will soon all go belly up.

"MDs like yourself clearly have a vested interest in setting up barriers. True or false, your revenue stands to decrease if personal genomics companies like 23andMe start to take off!"

Anonymous, you clearly do not understand the healthcare system.

1. What these companies do is test. A physician cannot make money off a test unless it is performed in their lab, in their office.....These guys don't affect our profit margin that way. In fact, they actually create confused patients which come to us in the end....

2. The question is not a true or false question, so it cannot be answered as such. Binomial thinking means you must be a computer person......hmmmmmm, I wonder what your IP address is????

3. We have no interest in setting up barriers for approprite care. While we do think this is a HUGE waste of resources, Dollars which should go into the care of a patient, the only barrier is wrapping your brain around the fact that most doctors don't even give a crap about these companies....

"Do you really think you are more qualified to interpret genetic data than 23andMe's scientific advisory board!"

Hmmm, a doctor qualified to interpret medical data and diagnose conditions, I think that's what my license includes.....

But, the answer is, It depends on who is on their board....Who? If they are licensed physicians who have studied that exact topic and sit on their board, then they are more qualified than I. If they are practicing medicine when they do it. If they are not taking responsibility and liability for this, then no....I am more qualified.

"What discoveries have you made?"

Or maybe you are a scientist(not that that's a bad thing)? The day discovery gives license to determine clinical applicability is the day clinical medicine dies. Which of course, you want anyways.....

Clincal applicability is determined by clinical research and clinical use.....that is usually carried out with...guess who? Physicians.....

To refresh your memory, I sit on the Informed Cohort Oversight Board of the Coriell Personalized Medicine Collaborative, where we interpret genomic studies and assess whether they are scientifically valid to be published and studied. I sit on this board with members of the NIH and several leading academic institutions...Harvard, Yale....

In addition, I will be participating on the Personalized Medicine Coalition's Clinical Science Committee......

So:
A. I am more qualified than most people
B. Discovery does not equate to clinical sense or science...

Sorry.

The problem with people who want to "replace" doctors and relegate it to some computer or hacker is that it requires tremendous amounts of learning......and when you are doing learning and maybe "playing doctor", by the time you finish with the study, guess what? You have become one of us.....so we never will be replaced, we will just have more people that become doctors through self study.....the real question is: "how will they get the license to practice?"

Once again, Thanks for reading my blog. Maybe next time you will have the stones to reveal who you are.....

-Steve

Anonymous said...

Quote: "Here is another mistake: for you of all people to accuse someone of "promoing" a company is ridiculous. This is an obvious case of projection. You are the one shamelessly "promoing" Helix Health of Connecticut in every forum. MDs like yourself clearly have a vested interest in setting up barriers. True or false, your revenue stands to decrease if personal genomics companies like 23andMe start to take off!"

There is a huge difference between promoting a business that has flaws than a business that just needs exposure so they can get clients (or referrals in Dr. Murphy's case). Selling genetic tests as they have clinical validity is a bad thing for society. You are technically incorrect about the success of 23andMe and the success of Dr. Murphy's company. The MORE people who have personalized genetic tests done, the more POTENTIAL clients that Dr. Murphy's company will have. The headaches that will be brought upon by unvalid genetic tests is what will cause problems in the medical commuinity. We don't need people getting a genetic test done showing a gene mutation that puts a person at an increased risk for a condition WHEN THEY ONLY TESTED ONE GENE (or a specific SNP). This type of data is garbage if you don't take into account environmental factors and family history. There are many people who carry mutations in genes that put them at an increased risk for a condition but they don't develop the condition. Even if a person has a mutation in a gene that puts them at an increased risk you have to account for so many other factors....which drug will work the best, what dose, is there even treatment available, psychological factors (the feeling of guilt, etc). Having said all that, a scientist at a bench will know more than a person who has been trained in human physiology (not!).

Quote: "Do you really think you are more qualified to interpret genetic data than 23andMe's scientific advisory board! What discoveries have you made?"

See above.

What is up with these people who support personalized genetic testing bashing the clinicians? The buck has always stopped in a physicians office and always will.

**Sarcasm below**

Dear customer,

Thank you for ordering the the BRCA1/2 genetic test. Our findings show that you have a mutation in the BRCA2. Therefore, you are at a (give any published journals rate of "risk") for developing breast cancer. We advise you to take (whatever drug is most often used in the clinic) at a (whatever dose). Please log into your computer to learn how genetics works.

Sincerely,

We don't offer medical information.

**end of sarcasm below**

So who passed the gene mutation on? Did anyone pass the gene mutation on? Was the gene mutation a random occurrence? What is the likelihood of the person actually developing cancer (family history is huge here)? Based on age, ethnicity, and race, what is the best treatment options? If the person has already developed the breast cancer, what is the size of the tumor, what medication or treatment option will work the best, etc?

So anonymous, come back with all of the answers. Hopefully you will see why physicians and GC's are where the buck stops.

Everything I said above is why I have predicted that 23andMe will start to follow the business plan of DNA Direct. If 23andMe does follow the path of DNA Direct, then I don't have a problem with them at all. But until 23andMe develops an IRB, etc, I don't have respect for them as they are doing more harm then good.

Signed,

N/A

Steve Murphy MD said...

Thanks to those who echoed my comments. This is just further proof of the slanted and completely ignorant view those who "think" they know healthcare have.....

Personally I think they should stick to what they know best and partner with someone who actually knows something about healthcare PRIOR to launching "The Next Big Thing"

-Steve