Friday, February 1, 2008

Getting the Band Back Together...

The Sherpa is back....and with a vengeance. First, thank you to all who wished myself and my family well. We are doing fine. The family had a member get struck with cancer. It never ceases to amaze me how this horrible disease can bring families to their knees. I look forward to the day which we can detect these malignancies prior to their metastases. Even better, before they ever start.

I just spent the afternoon with Genome-Boy Misha Angrist. With Bertalan Mesko coming on Monday I feel like the Blues Brothers. Misha and I had a fun filled lunch and interview. I can't be sure who was interviewing whom, but I am certain both of us walked away more informed. I honestly admire those 10 PGP'ers. Imagine not knowing that these corporate genomics companies would be making such a huge imprint on the face and change the genomic debate. Their decisions to enlist took true courage. That being said, I loved it when I heard Misha say, just because we can sequence doesn't me we should......or shouldn't do it. He said "We just need to lower our expectations of what 600k or a million SNPs can tell us."

I agree. Which brings me to my next point. For those who read the Nature Genetics Editorial entitled positively disruptive...let me issue a huge wake up call. I am currently drafting a submission outlining the huge leaps of faith this article takes. Before I leak that info, I just want to say how can we expect physicians who went to high school before the central dogma to apply genomics? Even worse, how can we blame them for being so dismissive, when they don't appreciate what personal genomics may SOMEDAY bring?

How can we blame physicians when they don't even speak the language of genomics. I don't think I need to get into how few physicians ever received any training by a geneticist. They can learn, for sure. But it will take them about 1-2 years of consistent study. Somehow I doubt they will shut their practice doors to go back to school. Here's what gets me about this editorial...

It is not beyond most physicians' skills to explain the quantitative risks conferred by— and the research underlying—the health predictors they currently use: BMI, cholesterol, blood pressure, age and sex.

Malarky- It has been well studied that most physicians cannot even explain terms such as number needed to treat. Their innumeracy has been demonstrated time and time again in the literature. Their study is ongoing and the answer is, quantitative risk is extremely difficult to explain. This assumes that most patients are prepared and health literate.....WAKE UP PEOPLE!!! How will an internet based report ever size up whether the patient is health literate? There exists such tools, but their administration requires face to face care. But even then this type of evaluation is difficult.

Over 40% of adults in the US are either barely health literate or are frankly health illiterate. So how can we expect them to understand genomic data even written in the 6th grade level?

The individual gains a personal stake in the ongoing research effort and a huge incentive to find out more. A personal stake in finding out something that was not previously known is the key to getting students into research and may well be a powerful tool to educate and interest members of the public in the details of their own health and functioning.

Really? I just saw 13 diabetics yesterday. Not a single one feels that "Personal Stake" and they are afflicted with disease. What will make genomic information in an asymptomatic patient so special? I would love to see some STRONG data on this one. Remember, patients have to be health literate to understand the implications of their disease or pre-disease.

The pressure of information also creates a need for genetic counselors, but if uptake and use of individual genomics spreads as fast or widely as it seems likely to do, the counseling curriculum will undergo a rapid shift of emphasis away from rare mendelian diseases to both rare and common genetic determinants of common diseases and will acquire a new set of courses to deal with evaluating environmental risks.

Hmm <3000,>300 million US citizens, >120 million who are health illiterate. The majority who went to high school before the 80's or even the 90's When was the last time academia moved at the rate of anything other than Glacial Speed?

In the meantime, individual genomics will have informed thousands participating in one of the most exciting areas of biomedical research, and it may recruit participants in prospective studies that they will have funded partially from their own pockets.

Likely unwittingly.......Hat Tip 23andME

That being said, they are co-investigators, not patients, and the experiment will be conducted on their own terms!

I guess that's why they skipped the Institutional Review Board. Haven't we seen that before?

The Gene Sherpa Says:

Pollyana get a grip, take of the rose colored glasses and smell the thorns. For us to reap the benefits of genomic health, we need public education, physician education. What these corporate genomics companies need is some ethics classes, an IRB review course, and some restraint. I look forward to seeing how Navigenics moves thorugh this maze. I am certain it will be better than giving away free kits to steal your genome. Disruptive technologies require an ability for the public to utilize them rather quickly....I am not certain this is that case. Which brings me back to Genome Boy's point. "Just because we can sequence doesn't me we should......or shouldn't do it. We just need to lower our expectations of what 600k or a million SNPs can tell us."

1 comment:

Anonymous said...

I'm anxious to find out what the big news is.