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!

Oscar and Predictive, Personalized Death

I just had to post on this today. In the New England Journal of Medicine there was a brief article on an Uncanny ability by a unique cat.

From the article:

Oscar takes no notice of the woman and leaps up onto the bed. He surveys Mrs. T. She is clearly in the terminal phase of illness, and her breathing is labored. Oscar's examination is interrupted by a nurse, who walks in to ask the daughter whether Mrs. T. is uncomfortable and needs more morphine. The daughter shakes her head, and the nurse retreats. Oscar returns to his work. He sniffs the air, gives Mrs. T. one final look, then jumps off the bed and quickly leaves the room. Not today.

Making his way back up the hallway, Oscar arrives at Room 313. The door is open, and he proceeds inside. Mrs. K. is resting peacefully in her bed, her breathing steady but shallow. She is surrounded by photographs of her grandchildren and one from her wedding day. Despite these keepsakes, she is alone. Oscar jumps onto her bed and again sniffs the air. He pauses to consider the situation, and then turns around twice before curling up beside Mrs. K.

One hour passes. Oscar waits. A nurse walks into the room to check on her patient. She pauses to note Oscar's presence. Concerned, she hurriedly leaves the room and returns to her desk. She grabs Mrs. K.'s chart off the medical-records rack and begins to make phone calls.
Within a half hour the family starts to arrive. Chairs are brought into the room, where the relatives begin their vigil. The priest is called to deliver last rites. And still, Oscar has not budged, instead purring and gently nuzzling Mrs. K. A young grandson asks his mother, "What is the cat doing here?" The mother, fighting back tears, tells him, "He is here to help Grandma get to heaven." Thirty minutes later, Mrs. K. takes her last earthly breath. With this, Oscar sits up, looks around, then departs the room so quietly that the grieving family barely notices.

On his way back to the charting area, Oscar passes a plaque mounted on the wall. On it is engraved a commendation from a local hospice agency: "For his compassionate hospice care, this plaque is awarded to Oscar the Cat." Oscar takes a quick drink of water and returns to his desk to curl up for a long rest. His day's work is done. There will be no more deaths today, not in Room 310 or in any other room for that matter. After all, no one dies on the third floor unless Oscar pays a visit and stays awhile.

Note: Since he was adopted by staff members as a kitten, Oscar the Cat has had an uncanny ability to predict when residents are about to die. Thus far, he has presided over the deaths of more than 25 residents on the third floor of Steere House Nursing and Rehabilitation Center in Providence, Rhode Island. His mere presence at the bedside is viewed by physicians and nursing home staff as an almost absolute indicator of impending death, allowing staff members to adequately notify families. Oscar has also provided companionship to those who would otherwise have died alone. For his work, he is highly regarded by the physicians and staff at Steere House and by the families of the residents whom he serves.

The Sherpa Says: Perhaps this cat is just "sucking the breath" out of the patients.............

Google your genes part deux?

Not since Google partnered with Craig Venter in 2005 to start using the power of the genome have we heard a peep about the secrets that lie ahead for the two, well and possibly Ryan Phelan. CEO of that company which makes money off of testing people rather than a medical(yes genetics is medicine people) model. Stark II laws made it illegal for doctors to make profits from testing people, so why whould pseudo-medicine outfits be able?
Anyways, where was I? Oh Google.....
In this weeks HealthcareITNews there is an article on Google pushing for better health information on the web. Perhaps to harness the power of the two? Google your genes and then learn about the diseases you are predisposed to....All 50 of them :) This whole thing will not fly without doctors? Doctors are trained to build this list of 50 diseases and then whittle it down to 2 or 3. That being said, genetics is a different story. According the recent ACMG statistics the mean age of most geneticists is 52. There are also less than 1000 MD geneticists in the country! 20% plan to retire in the next 5 years. To fill their shoes? Less than half of the 150 training spots are filed. Google is starting to look like they have a chance. Even worse, in medical school the Association of American Medical Colleges ranks genetics as the 3rd most important topic yet none have a prerequisite of genetics in undergrad for entry. Your internist or pediatrician or Ob knows less about genetics than Google. Who will deliver the future and personalized medicine???? Not them. Maybe Google. Maybe cutting edge genetics practices that have specialized training?
What do you think?