2013 what predictions? Eh Sherpa

Ok. I just put this here because I like Andrew Dice Clay. Here's my take. Let's look at what happened in 2012 and my predictions.
Here's what I said

1. In regards to DTC Genetics, the FDA won't shut you down if you are google.But you will have to give your test away for free to build your database

If 99 dollars isn't giving it away, I have no clue what is

2. In regards to Pharmacogenomic testing, most doctors won't use the service despite studies showing utility that have existed for 2 years.

They still didn't in 2012.
3. In regards to GWAS predisposition testing, it is mostly useless. It doesn't scare or heal you.......most of the time

Nothing has changed science wise with this statement

So Now, after months off I have to come up with brilliance. Really?
Navigenics=Dead DecodeMe=Dead Pathway=Weight Loss genetics 23andMe=Giving tests away next to free

DTC Genomics is not the play here. 

For personalized medicine to succeed, the clinicians still need to learn and the students need to teach.

Prediction 1. A true 1000 USD genome will come out in 2013, late November, early December

Prediction 2. Someone will sue 23andMe for privacy violations

Prediction 3. A big set of PGx data will be released....and ignored.

Prediction 4. Hillary Clinton will have either cancer or a stroke. Her health reports are suspect at best.

Prediction 5. Nutrigenomics will begin to have much more press coverage.

The Sherpa Says: I am here, blocking and tackling. Awaiting the next phase of the climb. 

5 years later, Navigenics fulfills my prophecy

From August 24 2007 (5 years ago)

Just wanted to give a shout out to David Hamilton from Venture Beat who wrote about Navigenics a while ago. To me whether 23andMe has a competitor or not does not matter. All that it sounds like is another non-clinical company trying to be clinical..........

From his article

"In other words, Navigenics essentially intends to get people to have their genomes scanned in a rough-and-ready fashion — in other words, they’ll scan your genes with chips that look for single-letter variations in the genetic code, instead of laboriously reading it out letter by letter — and then to match up what they find with the latest information on the diseases to which your genes might predispose you. Navigenics so far seems focused on the question of what your genes might say about disease, whereas 23andMe is apparently also interested in helping people trace their genealogy and creating social networks where they can compare and contrast their genetics."

And my favorite quote: "At the very least, though, it’s clear Navigenics has come loaded for bear. In addition to the blue-chip VC backing......"

The thing my mother always taught me.......the more money you need to market and sell something, the more likely it is that people don't need it........


Thoughts????? 

It appears, my thoughts were correct.....

 From August 2012 HT D.C.

Dear Navigenics Member,

Navigenics was recently acquired by Life Technologies. As the Navigenics team transitions its focus to Life Technologies’ developing molecular diagnostic business, we want to thank you for your patronage and making genetics a part of your health.

This email will be the final communication from Navigenics. Here are some important things to know about your Navigenics account:

• Your genetic information is yours. Your genetic results will be available to you in your secure online account for three years, and you may log in to the Navigenics portal as usual to access your genetic information: https://www.navigenics.com/member/login. Please bookmark the link to your account for future reference. After August 2015, to ensure the privacy and security of your information, your genetic results will be deleted and will no longer be available to you online. Any remaining genetic samples you may have stored with us will have already been destroyed and discarded.
• Your privacy is our priority. In compliance with its existing policies and informed consent, Navigenics will not sell or share customers’ personally identifiable or genetic data.

You can find additional information in our online FAQs: https://www.navigenics.com/visitor/about_us/acquisition_faqs/.

Wishing you the best of health,

Navigenics Member Service

Navigenics Member Service can be reached directly at 1-866-522-1585 ormemberservice@navigenics.com. If you do have questions or need to contact us for any reason, please do so before September 21, 2012. After that time Navigenics Member Service will no longer be available by email or phone.

4 Embarcadero Center, Suite 1400. San Francisco CA, 94111

member.service@navigenics.com

1-866-522-1585

The Sherpa Says: No matter how much money you spend in SoHo, you shoulda made sure you could test the people in NYC.

23andMe proves the Sherpa right and kisses the ring!

In case you have been wondering where the Sherpa has been. Have a read.

I have been following the DTCG and FDA closely and it appears, my theory and logic is correct!


23andSerge has decided to stop being silly and stop fighting "The Man" Instead they kiss the ring and FINALLY acknowledge what I have said over and over again. If you are testing for medical conditions, if you are doing medical tests, you must be regulated as such.


Despite this, Anne W and 23andSerge fought for years. "It's research" "It's for fun" "It's not medical"
Further, 23andSerge's move proves the "brilliant" Thomas Goetz dead wrong and me, the little "ol Sherpa, spot on correct.


23andSerge will be asking for FDA approval of their medical device known as the 23andMe test.


Why does a service like this need FDA oversight? Because it is a medical device. Simple enough. Also, oversight is needed for this service as they cannot be trusted to police themselves.


Further, with inaccurate information, the FDA will have a very close look at what 23andSerge is offering.


IMHO, this move by 23andSerge is exactly what is needed to prove to all the skeptics wrong. 23andMe is doing medical testing and needs to be regulated as such. END OF STORY.


The Sherpa Says: I hate to say I told you so. But, I did. Just like I warned the guys at Pathway not to launch DTC via a major retailer. They did 2 weeks later and then got shut down. 

What's the Sherpa Up To?

I have decided to write an update to what the Sherpa is Up To. Why? Well, after 5 years of hard work, Lee Gutkind is about to publish a work of creative nonfiction. I am one of the main characters. The other characters are also very compelling. 


I was able to preview a copy and am very excited. 


But, after reading, I thought I should give you an update on what the Sherpa is doing. Let me explain my madness. Here is my thought. As my good friend John Setaro MD would say. 


"There isn't any genetic advantage that can't be overcome with aggressive environmental modification."


This was me. I was overweight, the practice was stressing me and killing me. I needed to lose weight. I did. 30 pounds of weight. Mostly fat. This changed my life. How did I do it? FitBit, metabolic testing using gas exchange, calorie tracking, some things that a guy like Eric Topol MD would call mobile health.


I began to pay attention to obesity. I noticed that obesity is a huge familial disease and an epidemic in the US. But, the genetic markers soft at best. So I say again, family history matters more. I studied fat metabolism and began to realize this disease was very similar to some mitochondrial deficiencies. I began to align genetics, family history, obesity and preventative care. Truly personalized medicine. I will sit for the obesity boards this year.


I understand the future of medicine and the potential of personalized medicine to enhance disease cure and prevention. In this case, I have been able use my understanding of metabolic genetics, clinical genetics, bariatric medicine, pedigree analysis, mobile health, medicine and wellness, to help cure diabetes, hypertension and depression. It is amazing how people feel better when they are no longer obese.


I along with 2 other physicians, my 3 nurse practitioners and our 3 offices (yes, a long way from a genetic counselor and a part time office on Park Avenue, NYC) devote every day to early detection of disease and prevention of disease.


You will soon be able to see the fruits of our labors. We are modifying environment aggressively to overcome genetic and familial risks. We take family history, environmental history, genetic testing (if indicated), mobile health tools, technology, social history and use these tools to maximize human life.


A concept we call Arete (R-eh-Tee). The Sherpa is creating the best system to cure disease, using the model developed from his own 30 pounds of weight loss and journey to health. Come see us, we are still in Greenwich, 115 East Putnam Avenue, 23 Maple Avenue, 49 Lake Avenue. 203-869-0451.


The Sherpa Says: We have made camp, 1/3rd up the mountain, beans and lamb are on the fire, with quite an ascent coming. Genomes, Environmental, Technology. Coming soon! But for now, go buy Lee's book!

Personalized Medicine, AML and Diaprognostics

When driving of flying with the kids, I hear "Are we there yet?" It has to be one of the most annoying things these little angels do.


I had a wonderful patient. A fantastic friend. He was diagnosed with AML. 21 days later he died.


The family, upon learning the diagnosis said, "Is he going to do ok?" Sadly, given his age, I said probably not. But......his cytogenetics looked good. 


Way back when, we classified this disease according to microscopic morphology. It was classified on how it looked visually. This led to some good, albeit not perfect classification.


We then used our rudimentary cytogenetics studies. This led to some helpful poor and good prognostic help. Again, not perfect, but better. Well, my friend's cytogenetics were great. So I suggested that, we may be surprised........


Despite this, he died. 21 Days later. Why? Was there something else? Perhaps some genetic alteration that was not screened for. Could I have had some better prognostic tools?


Well, we sent for some experimental marker, which returned too late. NEJM has recently published  a study on these markers. Yes, I did something experimentally. Why? My friend was dying and I needed some insight.


"We identified at least one somatic alteration in 97.3% of the patients. We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 andPHF6 were associated with reduced overall survival (P=0.001 forFLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival"


Despite good cytogenetics, my friend died, 21 days after diagnosis.


FLT3-ITD positive.........results returned 5 days after death.


Why can't we do these faster? Why didn't it get sent right away? I should have forced the provincial Oncologist to send ASAP. 


I will from now on. In remembrance of my friend.


The Sherpa Says: We have to get these studies out in publication quicker. We can't move the ship of personalized medicine forward without quicker peer review and publication!

Personalized Oncology? Congratulations, you have 20 different cancers!

Has anyone followed the literature on these companies that offer personalized genetic testing to customize oncologic treatments? In a recent study published in the NEJM a thought that has launched millions of Venture Capital Ships has encountered some very rough waters.


In fact I know of one Consumer Genetics founder whose "Second Pivot" was this whole theory of personalizing cancer therapeutics to a series of genetic tests.  A simple premise you see. One cannot characterize the molecular activity and weaknesses of a tumor through a microscope. With staining, you can see some insight but not all. Thus, you need to molecularly profile your cancer. 


The solution, we create an amazing molecular lab to take your tumor sample and "Personalized Treatment" based on our tests. Just make sure you get the tumor sample.


Simple enough to do one would think.


Except when you have multiple different tumors at multiple different sites. Worse yet, what if in the same sample you have different tumors?


Well, there is a flaw in the business plan.......


Enter March 8, 2012. "63 to 69% of all somatic mutations not detectable across every tumor region" Quote from NEJM Further "Mutational intratumor heterogeneity was seen for multiple tumor-suppressor genes converging on loss of function"


Ok, before you start the shorting and divestiture......


Caveats
1. This was only in Metastatic Renal Cell Carcinomas
2. This is only in four patients
3. This can be mitigated if you take multiple tumor samples and sequence multiple areas, I hope.


What does this mean really? Something that in our heart of hearts we already suspect we know. Once cells become cancerous and mutate, they are more likely to mutate more.  Why would they be restricted in their mutations over time?


The Sherpa Says: You can really personalized a tumor's treatment by removing the entire tumor. If you can't do that, you risk missing personalization by 50%.

Laying down the Gauntlet, Royalty Time!

After having many discussions about this. First one in 2007 with Matt Tindall and others with a host of people, you know who you are!


I am even more convinced as we are a "GIVE ME MY DAMN BIOMETRIC DATA" society. Are patients really to be expected to give up their data to Google for "The good of the cause"?


The answer: Absolutely not. 


You have heard of Google AdSense right?
Google has clients that want to advertise, Google needs data to display these ads. In the internet world, this is known as content. What does Google do for this "content"? They pay you. They cut you checks for your blog/website/etc. (i.e. data)


Well, I have a question to those "early adopters (read- suckers)" Why did you give google/etc. your genomes for baubles? 


Why? For the good of it? Because you bought into AnneW's story?


GoogleAdsense existed before 23andMe. Most of you are smart silicon valley types. Why did you not demand a Google check?


My thoughts. For every piece of biometric data you pay some company to give you, the MOMENT, yes the MOMENT they sell it to a third party, you should get yourself a royalty check.


EVERY TIME!


I wanted to give shares of my company to research subjects. But, after speaking with IRBs, this was a conflict of interest. But not if the data were sold AFTER research was done.


My advice, if you are smart and are a lawyer, give me a call. I have some ideas of what area of law you should research!


The Sherpa Says: Stop Paying someone to sell your data and make profit. Sell your data and ask for a royalty!