A New Hope

I just got out of a meeting with a Very Nice Angel Investor. He had some really interesting ideas that I am dying to tell you about....but I just can't.....for now.

But what I can do is now tell you about how sad I am that I missed "Navigenics 2008 Opening Day" I don't know who was pitching...but from what I heard it was a success. Speaking of success, I just had another patient come to me with the magic 84 page printout. It will be interesting to see how the Mayo study comes out regarding all of these lab reports and patient comprehension. A few days ago a patient was seen by us for Pharmacogenomic analysis and he was puzzled by the laboratory reports and data. He actually thought that the boiler plate information on the bottom of the report was actually personalized. He asked "If I only have 2 copies of this, then why does it have 9 different types on my report?" I kindly reported that it was the boilerplate explaining all of the poor metabolizing alleles. Of which this patient had 2. Yes reading lab reports can even be tricky for physicians. Think it has changed since the 90s? Dream on!

It is no surprise that genetic counselors are on staff at Navigenics. It is the right thing to do....but how many genetic counselors know what CYP 450 is? Oh I mean what CYP 450 are. How in the world can we reconcile this? Even better question....how may physicians know what CYP 450 are? But there is a new hope. An institution being set up by myself and others. We are currently looking for donors and we endeavor to set up educational events and group sessions. We will work with Corporate Genomics, Academic Genetics, Corporate Labs, Academic Medicine to develop training workshops. Interested???? Email me.

This type of education is the future. We need to walk patients and physicians through reports, through taking family histories, through medications....together. Preferably face to face or television to television. It is my belief that we cannot do this through a scalable 84 page report....or a Flash'd/XML'd out site. No amount of money will replace the human element. So we need to train more Sherpas....and I am looking for funding to do it.

The Sherpa Says:

I am headed to SoHo tonight. Maybe they will have a million or two lying around???? After all, this is a new industry ;)

I lost my Train....

So last week I asked the question. "Where would we be if we had a 1000 USD genome by next year?"....But more importantly I asked "Who would lose if we had a 1000 USD genome by next year?"

So who would lose?

I am having a hard time coming up with these. I think they tend to breakdown into several groups

1) The group who benefits from not being able to target medicines and diagnoses.

2) The group who would is scared to know what the secret of the genome holds

3) The group not nimble enough to change their practices and adopt new technologies

4) The group whose genomes hold some horrible secrets and disadvantages that have previously gone undetected

5) Those who I have left out, the unknown unknowns

So let's address one at a time

First up.....Who benefits from trial and error medicine? Who benefits from not having cheap genome sequencing

1 Big Pharma.....buy the drug.....doesn't work......buy another and another and another

2 Hospitals.....Chest Pain?????.......Admit to rule out heart attack........Chest Pain Again????.....Admit and repeat the process again..... To a certain extent this is true.

3 Device Makers........Obesity????.....Have a LapBand..........Funny Heart Beat?????.....Have a pacemaker. We are talking thousands of dollars per device people!!!

4. Knome....(Sorry George)

5 Patented genetic tests.....

6 Not the SNP people....their products now are merely the entry level players....They will switch to whole genomes ASAP....Trust me.

Can you think of others? I bet you can.....So who are they?

The Sherpa Says:

This is how we need to think about the barriers and how to break them down. We need to show who loses how they can win. Then we get them invested in the process. That is what the Wall Street Journal Article is all about.

500 Hospitals want to know....

Lots of stuff happening online today. I just left a conference call where I was the invited guest panelist along with Robert Resta CGC. The Advisory Board Company and The Innovations Center presented an Issue Brief entitled-The Genetic Testing Frontier: Impact on Clinical Care, Market Opportunities. Hundreds of hospitals were online wondering how they too can get a piece of the action.....

Also....did anyone read the Washington Post today? Genetic Testing Gets Personal again another article on this "revolution" non subscription link here

"We call it consumer-enabled research," said Linda Avey, co-founder of 23andMe, based in Mountain View, Calif. "It's about changing the paradigm of how research is done."

Well Said.......You could also call it uninformed cohort analysis...."Free Kits?" Come-On....nothing is free. Davos, you sold your DNA for some fancy flash animation and trinkets....I am guessing the Belmont Report is not required reading in MBA schools...Hey guys don't worry, here are the Cliff Notes

The Belmont Report explains the unifying ethical principles that form the basis for the National Commission’s topic-specific reports and the regulations that incorporate its recommendations.

The three fundamental ethical principles for using any human subjects for research are:

(1) respect for persons: protecting the autonomy of all people and treating them with courtesy and respect and allowing for informed consent;

(2) beneficence: maximizing benefits for the research project while minimizing risks to the research subjects; and

(3) justice: ensuring reasonable, non-exploitative, and well-considered procedures are administered fairly (the fair distribution of costs and benefits.)

These principles remain the basis for the HHS human subject protection regulations.

Paradigm of how research is done???? Isn't that why we developed IRBs? To protect from those who want to change the paradigm and injure the patients? IMHO these companies need to immediately develop research protocols and IRBs. End of story....nothing less. The consumer should be allowed to at least ask questions to another person.

It can be entertaining, Venter said, to learn one has a gene for soggy earwax. "But if you're on the receiving end of one of these tests and are told your probability of having a serious problem is 62 percent, what the hell does that mean?"

And that is assuming the results are correct. As it turns out, many gene tests today search for DNA patterns that have been linked to a disease or trait in only one or two studies. Such findings are often overturned by later research.

Enter the trained professional.....This is precisely why we need more Sherpas!!!

Dr Venter is completely correct....the brick and mortar where professionals exist is the transition point. Even 500 hospitals online today acknowledged that. Now where do we get these individuals?

Exacerbating the problem is that virtually no one is watching over the industry. The Food and Drug Administration does not regulate most gene-based tests, and there is no federal proficiency-testing system for companies offering them.

Enter the SACGHS and EGAPP...2 organizations devoted to helping best practices....In addition, the ICOB at the Delaware Valley Personalize Medicine Project will also help shape this future.

"It creates an air of charlatanism that doesn't help the field," Venter said.
All told, concluded a study in this month's issue of the American Journal of Human Genetics, "There is insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention."

That is my number one concern. Here's why...geneticists and genetic counselors require referrals from physicians who don't speak genetics, but watch the national news and read the New York Times...If they link Medical Geneticists with Scientific Match.....There Ain't no way in hell any self-respecting, butt-covering, good physician will refer patients to such "Qwacks" simply due because of the confusion. All press is good press? Don't think so...especially when the NEJM posts such a confusing article failing to clarify the difference.

"I very much worry that all this emphasis on a 'gene for this' and 'gene for that' raises the risk that people will conclude that that's the whole story," Collins said. Instead of empowering people to make healthful changes in their lives, that could simply make them "more fatalistic," he said, "in which case, what's the point?"

Me too Francis...Me Too....

The Sherpa Says:

To climb the mountain we need unreasonable people that won't quit....Corporate and Academic can exist together...provided they do the right thing. Do it yourself surgery is probably just as "Revolutionary" so why isn't anyone on that money train? BTW the pic is of do it yourself LASIK.....I bet that is a best seller.