Harsh on All Fronts!

I am often accused of being overly critical....whether it is of the Genetic Counselors, or the Physicians, or maybe the Scientists. I am definitely critical of DTC and even more so of the Medical Geneticists....

In fact, I praise each of these groups at such a low rate, that many think I am looking to isolate myself from the entire field.....I am not. I just point out problems in our backyards so that we can clean them up.....

I was told the other day by a senior Geneticist that what I had done to the Genetic Counselors had then questioning their roles. I had thrown academic genetic departments up in arms, trying to now figure out how to bill legally for what they are doing....

Is that such a bad thing? To make people accountable for what they do.....to help motivate them to lobby extra hard to get paid what they should. Rather than break the law and just exist?

I strategically pick issues and attack them. I know that it upsets most who read this blog when they hear shortcomings in their own fields.

The pediatric geneticist who gets mad because I say they don't know what Plavix is.....

The DTC company who I say is "playing doctor" without any of the liability.....

The PhD Geneticist who says that I devalue what they do......I don't I just think we need not hype every little discovery....

My point is not to keep picking on us.....it is to help motivate us towards change.....

So I now will give you a rare Atta Boy.

1.) DTC, thank you for putting genetics into the public eye. Your millions of dollars spent on PR has helped raise awareness of genetics. Misdirected as you may be, the public is now aware that we can do genetic tests.....

2.) Human Geneticists, thank you for your tireless hours of work to discover new genes and new functions. We would have nothing without you. I can understand why you are so proud of your work and why it often comes across over zealously in the news....Thank you for your efforts,

3.) Genetic Counselors, thank you for working so hard to keep our field alive. When geneticists abandoned cancer genetics and you picked up the torch we needed you most. You have kept us true to genetic principles and spoke out against great atrocities. In addition, you spoke against false advertising.......Thank you

4.) Adult Physicians, you have felt the burden of my wrath most......but guess what, you have done the greatest thing of all, you have carried on the traditions of medicine and kept primary care alive this long....Without your work we wouldn't even have a thought of Personalized Medicine. Working long hours for continuous pay cuts by insurers, you have fought to keep patients cared for. How could you have the time to learn genetics?

5.) Medical Geneticists, thank you for caring for patients with monogenic diseases, studying new ways to investigate and care for them. To the small batch of you teaching adult doctors genetics, thank you. To those teaching medical students, thank you. We need you now more than ever.

The Sherpa Says: Now don't let that get to your head, we have a lot of climbing to do, so eat a big breakfast and let's get going!

Did you hear? Sanjay General!

Yes it is true. Pres-Elect. Obama has asked Dr Sanjay Gupta, Neurosurgeon to be Surgeon General.

Before joining CNN in 2001, Gupta was a neurosurgery fellow at the University of Tennessee's Semmes-Murphy Clinic and the University of Michigan Medical Center. Gupta has some experience in politics and policy. During the Clinton administration, he was a White House Fellow and special adviser to first lady Hillary Rodham Clinton.

So the questions. First, what does the Surgeon General do?

According to the Surgeon General's Site

The Surgeon General serves as America's chief health educator by providing Americans the best scientific information available on how to improve their health and reduce the risk of illness and injury. The acting Surgeon General is Rear Admiral Steven K. Galson, M.D., M.P.H.

I am pretty surprised that Sanjay was nominated. He is not exactly a public health guy. In fact, at the pace Obama was naming genetics people, I was half expecting Muin Khoury to be nominated. But, Sanjay is certainly an interesting pick. Now the question is, what will a Neurosurgeon tell the public about Genetics and Personalized Medicine.

My guess is not too much right now. I hope he will get up to speed on these subjects. Neurosurgeons are not exactly known for their prowess in pharmacology or even science.

A friend of mine and Neurosurgeon once joked "Do you know the difference between a Neurosurgeon and a Neurologist?"

"A Neurologist knows everything and does Nothing. The Neurosurgeon does Everything........"

He couldn't bring himself to finish the joke.....Figures.....egomaniacs........

Seriously, I want to know how this will affect the public perception of Personalized Medicine. In addition, some are already poking fun at his scientific knowledge. At the Chicago Tribune too. I have always thought of the Surgeon General as the end of a punchline, but they do have the potential to cause a stir.....

BTW, a google search for Gupta and personalized medicine reveals almost nothing showing he has reported on the topic.....He did report on Venter's Genome though, so that counts for something......well maybe not when he opens with "This man Knows his Destiny".....clearly not exactly the in depth knowledge I would want, especially when he says "He has all 3 heart attack genes". He's more like the GenomeHype WoMen from 2008......

That has me a little scared or skeptical. But one thing's for sure. He certainly is picking a lot of Clinton people.

The Sherpa Says: You gotta love it, even the Russian version of Newsweek says I am a fierce skeptic of 23andMe.....So, Do Svidanya for now....While you await the return, can you guess what the graph is???

Prediction from a Reader.

Ok, another sleepy day up in New Haven.......

But not with me. I received some comments from my last post which were interesting and I want to share one with all of you....

This year we will see some new genetic tests being developed and improved. We will also see 23andMe start to follow the business plan of DNA Direct.

This is a pretty insightful comment. Will we see 23andMe go for the DNADirect business? If the data behind genome scans is currently weak, how can 23andMe monetize their model? Yes, we all know about the database thing....Isn't that what landed Celera in a heap of pain?

Seriously, will 23andMe begin offering single gene tests? I am always confused by this one. DNADirect states that they do not mark up their tests, but how do they make money? I am curious about this one too. But if you look, their BRCA testing it costs 3465 USD which includes pre and post test counseling. The Cost of the Test through Myriad is 3120 USD, which is a difference of 345 USD. But the test through DNA Direct includes pre- and post- test counseling.

So 345 for counseling? I think that is an incredibly cheap amount. In fact it pushes the limits of the true value, which I think is around 1000 USD.

How do they do it? Through, telegenetics. And, if you look closely, if all you want is counselling, they only charge you 150 USD...likely per consultation, thus making 45 USD, which doubtfully can cover overhead. So I ask again, would 23andME like this model? I say yes, because if you use a genetic counselor rather than a physician you can pay them about 50-70,000 USD.

So, if we do the math 1200 consults need to be provided per year to cover the CGC salary. What if that is a physician at 150,000 USD? I think you get the picture.

So what do you get from a physician that you don't from a CGC? I think I have been over that one a few times now. Thus the higher salary. But for a business, do they care about that difference? More importantly, would 23andMe care?

Doubtful......

So I tend to agree with my reader. If 23andMe can sell medically relevant tests to consumers skipping the doctor and using the counselor instead, then this is an attractive business to them. But if you throw in physicians, then you may have a problem. So heads up Ryan, looks like you may have a healthy competition....

Now, here's the big question. Who is ordering the test? In CA like many other states a physician has to be responsible for ordering these tests, just like the Viagra Scheme.....

So, will we see more of this "creative" entrepreneurism which will likely disintegrate the trust between providers and patients? A most resounding yes. At the same time, should patients trust providers who often miss these diagnoses or fail to test?

How do we solve this? My gut tells me the responsible way to do this is out there. It doesn't include cutting corners for patient empowerment. What it does include is education for physicians and healthcare practitioners on a scale so massive that it only can be done over the television, radio and internet. It will take millions and millions of dollars.......Didn't Navigenics get 25 million? That should cover the first few years of what I propose we do.......

The Sherpa Says: I am still waiting for a press release to be drafted before I announce my news. Don't switch that dial......genomicTV will be right back!

Sherpa's Batting Average for 2008.

I make some pretty outlandish predictions on this blog, including Francis Collins will become director of the NIH.....I am not afraid to be wrong. If I see a trend or a problem, I call it. What has gotten people's attention is that I tend to be right more often than I am wrong....at least for now.....

I start out every year with some of these predictions, so I figure, why not look at the one's I made last year in 2008

As I looked into my magic 8-ball/Complete Genomics Scanner. Which came true? Here are the predictions:

1. Jim Watson will die.
Well, only a few base pairs off on this one. The legend Victor McKusick did pass, God rest his soul.....Damn that 10x coverage.

2. Mark Cuban would buy the rights to 23andMe's genome database.....I knew he would do something dastardly.....only it was not genome stealing.....it was insider trading..

3. The X-Prize would be won by a little known start up........At that time I thought Pac Bio would be ready to launch.....Guess I was wrong....

4. Oprah will have her genome sequenced.....Pretty pleased to say I was spot on.

5. Obama too........maybe not until 2009 when he comes to visit Helix Health of Connecticut....

6. Academia will start to market personalized medicine..........Duke, Harvard, Mayo, Scripps, Mount Sinai, UCSF, Stamford, Wisconsin, Ohio State all joined the ranks. I wonder why Yale is not there????

7. GINA will be passed........Thank god this one's in the books!

8. One of the DTC companies will be sued.....Well, you can always count on California to regulate something....NY too..

Welcome to the Big Leagues of Healthcare my VC brethern!

9. Navigenics would launch and use telemedicine. Man was I wrong....instead they tried to pass themselves off as medicine despite stating in their terms of service you cannot use this for healthcare decisions.......Yet MDVIP is....so how does that work??? Oh, you pay 2500 USD....got it.

So, where did I stand.....

Absolutely Correct:
4 of 9, if you count legal proceedings from a state as getting sued......

Close to correct:

1 of 8, McKusick dying is pretty damn close to Watson.....Damn that magic 8 ball....

Dead wrong:

4 of 9, Well........you can't guess them all. But I was right when it mattered most, which is more than I can say for A-Rod!

A near .500 Average will get you paid pretty well in the MLB. And most definintely will get you paid well in the world of Venture Capital.....or Wall Street.

The Sherpa Says: When you spend as much time climbing as I do, you see a lot of climbers come and go.......One thing is for sure, that Mountain never goes anywhere.

We have a lot of climbing left to do in 2009, we haven't even finsihed the approach!

Ouch!! CNV with lackluster results....

All it takes is 2 seconds to step on some of my readership's toes and I feel it. Yesterday I posted on a 5% error rate for Whole Genome sequencing, I argued that even at 30x coverage it would not be ready for clinical diagnosis. I had CEOs of sequencing companies emailing me and VPs calling me. I even had pound for pound one of the best bloggers in the space say he was embarrassed for me.....Ouch!

Why do I get pushback from people, when all I am doing is throwing some cold water on the party???

Get ready, because I am about to throw some more.....Remember yesterday when I said SNPs were one of 7 or 8 factors that will differentiate each of us??? Well, CNVs are another of those 7 or 8, 2 more include histone modification and methylation, telomerase activity and size would be another factor, the rest I am saving for my own....for now. I first heard about CNV is 2006 when Mike Murray at Harvard keyed me into these guys, since then I have been following the literature and hoping we could get some results....well, we have but......

Here's the cold water, CNVs are not everything either, despite what some very learned people say.....just like genetic and genomic testing is only PART of the armamentarium for a personalized medicine specialist, CNVs are only part of the story.

True, we may find some very high Odds Ratios and some very specific diagnostics in the CNV space.....unfortunately, the American Journal of Human Genetics lays an egg with a chinese study of osteoporosis CNVs that lead to an Odds Ratio of 1.7 for osteoporotic hip fracture. I was hoping some of these CNV stories would be much more exciting than SNPs....My guess is that alot of the SNPs that we found previously with GWAS may actually just be markers for CNVs....and if that is the case, can we expect that much more from CNV than SNP?

I know some who would say yes, and I look forward to their comments. I think we may see this as the key in some areas, where amount of transcript plays a huge role, like metabolism of compounds or perhaps in cell signalling and migration events, but what about diseases that don't need that so much, structural protein diseases, ciliopathies, etc......

Most importantly, what about the diseases that sneak up on us over time like diabetes or atherosclerosis? I don't think that these will be the answer here. I have a very strong feeling that my equation Genome + Environment = Phenome + Metabolome will still hold true....

The one thing I am certain of is how to make things clinically applicable and right now, CNVs, SNPs, or Whole Genome Scans....there are only a very few limited cases where we can use this stuff......Until the sequencing companies are willing to take the liability for how their product are used, there are going to be problems trying to sell it as medicine without medical professionals......

So sorry to GC, PM, CV, JR, DM and who ever else decided to email me or call me expressing their problems with my cold shower: shake it off, look for solutions and get back to climbing the mountain.

The Sherpa Says: I just want to keep the marketers from overhyping.....Because if we don't, they will "create" our science.....Through slick words and number play published in the New York Times or Wall Street Journal.