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Preview: Gene Sherpas: Personalized Medicine and You

Gene Sherpas: Personalized Medicine and You

To usher in the new paradigm of personalized medicine we will need to travel a perilous path. Much like the route through the Himalayas it has punished the naive and self-reliant. That is why I have dedicated my life to being a Gene Sherpa. What is a gene

Updated: 2018-03-02T09:05:24.765-08:00


23andMe grows up. Works to obtain 510k


23andMe has agreed to comply with the laws of the country in which they operate. Congratulations."At this time, we have suspended our health-related genetic tests to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process. In the future, you may be able to receive health-related results, dependent upon FDA marketing authorization."I remember speaking with Jim Woodman when he was at Pathway Genomics. We were discussing how fantastic it would be to work with physicians to develop a NGS testing service that would work seamlessly. I told him, that it is the best mass marketing they could do, because I felt their test was a medical device and that if they landed a big distribution deal, they could be subject to FDA scrutiny. He laughed and said, "We appreciate your point". 2 days later they announced the Walgreens Deal. In less than 24 hours, the FDA chimed in. I knew this simply and posted on this in 2009. Heck, everyone was pissed at me for saying this 5 years ago. SNP+ Interpretation is medicine.I remember watching the first 23andMe ad on television. I was drinking a nice IPA. It nearly came out of my nose. I saw another one a day later. Then another. I said to myself, Oh My God! Google has bought the FDA.......I was actually wrong. The FDA said, stop marketing your test. Then, I really followed this closely, as you can imagine. Some like Misha Angrist may say with some schadenfreude. But no, no. I am pained yet again. Companies keep making the same mistake. Arrogance, neglect for laws. Remember, this is the team, that I had to force to get an IRB and also had to force to use a CLIA approved lab.They set back personalized medicine. Some fools climb the mountain without a Sherpa. This is what happens. For all those entrepreneurs who don't want this mistake. Email me thegenesherpa@gmail.comThe Sherpa Says: I look forward to 23andMe's 510k application! The finally are growing up. Hope they don't bring back the blimp![...]

23andMe GATTACA children Patents, Google Master Race


(Sergey and Anne, divorced now)I have not posted in forever. Before I used to post on novel efforts for Personalized Medicine I thought would be promising. Some of those are coming closer, like CardioDX or HCV genotypic treatment.I also would post on things I thought would stall and distract us. One of the biggest culprits to this in my humble opinion was the model of Direct to Consumer testing that offered medical test results. Why did I opine on this? Why was I so concerned? In 2007 I stared at Linda Avey and I saw the total lack of concern to duty for the noble calling. I also saw a lack of concern for patient lives. 23andMe repeatedly have incorrect testing results, their desire to use a database for genomic patents, their desire to end around research ethics by first doing research without an IRB. This information prompted me to write a scathing warning in Nature Biotechnology in May of 2009. "In need of a reality Check" serves as a reminder that mega-lord Tech companies are dedicated to profit, not to the hippocratic oath. Not that I begrudge them for that. I just feel my country should contemplate what a company should be doing in the human care and healthcare space.When asked what is the duty of a DTC company to offer follow up or change of a variant of uncertain significance or interpretation. Joanna Mountain looked at Linda Avey, Linda nodded and Joanna said "We don't have a duty to follow up!"I was incredulous and countered this assertion. I said, as a physician when I do genetic testing, I have a duty to follow up. Dietrich Stephan from Navigenics said "We have a subscription model which will do this"Navigenics is now dead. Why? They weren't funded by Google. Let me tell you something about the company that is now 1000 USD per share. They are dedicated to bringing the future. This is valuable.What is scary? The future they are bringing is THEIR future. The companies they fund, like 23andMe and their CEO "Forbes' most daring" to bring about what they THINK we all should be doing and thinking and gobbledeegook of a terms of service states these things!As a business it is brilliant. As an ethical company to grow mankind.....well, not so much IMHO.Now the evidence I missed. 23andMe a Google funded company has applied for Patents that cover creating a master race according to parent specifications via preimplantation genetic diagnosis. Not rare, fatal diseases. Rather, eye color, hair color, height. How can they do this? You have given up your genetic privacy! Even Venture Beat mentions is. Heck, I wonder how many Genomes were given up to the NSA via PRISM.I didn't believe it when I read it  but then I went and did a patent search. It is indeed correct. US Patent No. 8543339So when you are spammed with the heavy amount of tweeting ads that @23andme is pumping out or the ads on FoxNews (Rupert Murdoch investor?) and other channels, think about what my warning. When hoping that Google or 23andMe will keep their customers safe and healthy, don't hold your breath. While physicians have taken an oath to first do no harm, Technology companies nor the "Internet" have taken no such oath!The Sherpa Says: Do we want an America that grants 23andMe patents for creating Master Races? Really? [...]

Coriell Spinoff Allows Biobanking of Patient Genomes!


Has anyone seen this cool idea? Coriell Institute is spinning off a very cool idea. 

Coriell and IBM will be collaborating to store patient genomes for cloud based analysis. 

While it is certain to face detractors due to security concerns and perhaps competing systems.......

 “I am a bit concerned if we really start to outsource data to the cloud without any regulation,” says Emiliano De Cristofaro, a cryptography scientist with Xerox’s PARC who is developing a genomic data storage and sharing platform. “We must not forget that the sensitivity of genomic information is quite unprecedented,” he says"......It is highly likely to succeed. 

While I agree security is really can't go wrong with IBM. Seriously. I am certain, given Coriell's stance on their research collaborative (Full disclosure, I sit on both the ICOB and PAG boards) which is utmost science and peer review, that they will also be just as scrupulous with this new spin off company!

This of course had all been in the works for months now, as it was telegraphed in November of last year ON IBM's blog SmartPlanet

The Sherpa Says: This cloud based storage and analysis is the future. Given the security challenges, you must have an excellent IT partner. Coriell has chosen wisely as will succeed with this venture.

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 said1. 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 databaseIf 99 dollars isn't giving it away, I have no clue what is2. 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 timeNothing has changed science wise with this statementSo 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 freeDTC 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 DecemberPrediction 2. Someone will sue 23andMe for privacy violationsPrediction 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: 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: you the best of health,Navigenics Member ServiceNavigenics Member Service can be reached directly at 1-866-522-1585 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, 94111member.service@navigenics.com1-866-522-1585The 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......Caveats1. This was only in Metastatic Renal Cell Carcinomas2. This is only in four patients3. 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![...]

Family History Works in Cardiac Disease!


Thank God that Muin Khoury is blogging! I would have totally missed this!When the CDC held a conference to evaluate Family History, they found "insufficient evidence" that this was a useful tool.At that time I was quite dismayed about this, because I know that I have helped SAVE LIVES by integrating family history in our daily personalized medicine practice.So I knew in my clinical heart of hearts that soon we would find "sufficient data" to prove that family history should be integrated into every encounter clinically!Here is some of the first data and evidence that integrating family history helps clarify high risk individualsSome of this evidence suggests that for every 5000 patients in a practice we would find an extra 200-250 patients at risk for heart disease!From Dr Berg:Dr Berg further states: “The complex design and analysis were meticulously planned and rigorously executed… That this study was done at all speaks to the better support for high-quality research in primary care in the United Kingdom; finding support for a study like this would be extraordinarily difficult in the United States … I look forward to further research and quality improvement evaluations documenting clinical results, and I hope that more work in this clinical domain can be done in the United States.“I am happy that despite massive cuts in the budget Dr Khoury is all over this!The Sherpa Says: Still much cheaper than 23andMe or Navigenics or any fly by night Direct to Consumer Genetic testing company! P.S. I will be hosting a panel at the Consumer Genetics Conference in June. Any ideas on who I should invite????[...]

The case for hippocratic oath in web health services


Today I want to tell you why I think that health related applications on the internet should have not only some "Good Housekeeping Seal of Approval" but should also take an oath similar to the one I took when I graduated from medical school.On it's face, there will likely be 3-4 camps reading this. One will automatically dismiss this as the "Web services" aren't providing diagnosis or treatment. My counter to them is that I said "similar to" the hippocratic oath I swore to. We'll call it the HippocraticWeb oath. The second camp of people will say "This is a fantastic idea but aren't there services like this that certify web content?" My answer to them is that this is not a certification of web content. Further, we all know those services like HONcode that certifies trustworthy information. Instead this will act as a code of ethics which the consumer of the health service will understand to mean a reputable business who has taken an oath which will work in the interests of the consumer.The third camp will say "Shouldn't the government be doing this?" My answer is: It hasn't. And how could one government govern the world and the internet? That is foolish. Instead, the web should do as those in the professions have done. Govern themselves with codes of honor and oaths which are publicly available. And no I don't mean "Don't be evil"I mean a certifiable oath that speaks about the actions of the business housing your health and medical data. I mean an oath that governs corporate decision making about whom to sell or share your data with. Not in a way that will make them the most money, but in a way that protects you, the person. After all, you paid to have access to your data, whether that be an LDL cholesterol, a blood pressure, a REM sleep cycle, a whole genome or what have you.Why do we need such a code?In my Nature Biotech piece I explain the dilemma with using web services for health purposes. Corporate interests are not designed primarily for the benefit of customers. They are primarily designed for the benefits of the corporation, whether that be 23andMe who just made a hash of an unnanounced TOS change (In this way there should be an offset to consumer.Which 23andSerge finally came around to because of public outcry)Or it be flagrant sharing of your data without your permission through privacy leaks or hacking. (IMHO Insurers should have given millions of dollars back to members for their leaks and gaffes)Why? Health companies have to do this already. But where does that money go? Further, how do I know that someone will do the right thing with my data when there is a breach? This Oath would allow the best of class to accept responsibility for their actions.Don't think it doesn't happen? Check it out here. And this exempts companies like 23andMe or Why. Because they are not governed by HIPAA or HiTECH!I am not proposing further regulation here. All I am asking for is that these businesses purporting to help us maximize our health "Man Up" so to speak and all swear an Oath, The HippocraticWeb Oath.The HippocraticWeb OathI swear by that which I hold most sacred, that I will fulfill according to my ability and judgment this oath and this covenant:I will apply reasonable measures to protect the welfare of the customers whose information I keep; I will keep in mind that this data they have granted me access to is theirs. Should I wish to own this, I will compensate the customer fairly.I will neither use this data as means of blackmail or coercion of customer. Nor will I engage in business with a company who has or intends to.I will not use the information in a legal proceeding unless receiving subpoena and properly notifying the customer of such request. In reasonab[...]

23andMe Buyer Beware, The Internet doesn't equal hippocrates


Ok, ok. I am not gonna tell you I told you so. But, I did.Did anyone read my article in Nature Biotechnology? Did ya? Here is your freaking reality check. 23andME has your DNA. It has it hostage and it has your datapoints. And it can do whatever the hell it pleases. Including locking or cancelling your account.They have enough data points for their robust database. They only need you sheep to keep paying 9 dollars per month or 108 dollars per year and 99 to start. 10 years? 1080 dollars. Even more than the first 999 USD they started with.Well guess what? People everywhere are waking up to the charlatanism that was peddled by Silicon Valley Overlords.....They have you, you are stuck. You have to pay FOREVER!!!!! BWAHAHAHAHAHAHAHAHAHAHAHA!!!!!!Even if you quit, they don't care. They Pwned you. And they still do. So what did the Sherpa say all of those years? Huh? No, not that their health reports are bull $hi!. But I did say that. No not that I was done posting on 23andMe. Clearly I am not.But I told you about the Master Plan!Even if you pull out your data, they still have it. End of story. You are powerless and have been duped. I am sorry. I wish you had listenedThe Sherpa Says: Buyer Beware web sites giving you tests and testing your DNA. 23andMe and its company are not  to be trusted. Sorry, but the web has not  take the hippocratic oath![...]

2011 Comes to a close. What we know about Personalized Medicine


I wanted to write a wrap up of what we know in the last 4 years regarding personalized medicine

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

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

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

4. Classical Cancer Genetics, Cardiogenetics, GI Genetics and preconception genetics have growing concerns as I am seeing more and more of these over the last 2 years.

5. When Whole genome or exome testing come out, we will have a mess load of data. This is an opportunity if someone can create subtractive algorithms to the "normal" data. Which may help us out....IFF we have a true "Normal Genome"

6. The Sherpa has been slow in posting, but these points are facts now.

The Sherpa Says: 4 years, a lot of hype, lots of sideways climbing. Next year will show big moves, just like 2007/2008 and we'll still be here.

Back again, 23andMe still $hits the bed with their reports


In case you haven't noticed. I dropped off the blog radar for a while. I had some growing to do of the practice and some streamlining. I read Daniel MacArthur's post with great interest this week. It describes clinical utility of 23andMe testing...... The one thing I haven't stopped doing is counselling patients on DTC Genomic reports. Just yesterday I was consulting a very nice patient. They told me they just had to speak with a doctor because the report indicated that they were at increased risk of stomach and esophageal cancer. They had been up for several nights reading about it. Further, when brought to their PMD, the PMD smiled and didn't offer up any advice. Well, first let me preface by saying, 23andMe's SNPs which they list 4 huge freaking stars of "CON"fidence for, on Esophageal and Stomach Cancer risk, while BTFW only ranking studies on Han Chinese. And only 2 studies at that....... This report had this patient seriously concerned. Until of course I took a G-D Damn pedigree and found out they had ZERO, I repeat ZERO Asian ancestry/ethnicity, let alone Han Chinese.... The risk report from 23andSerge listed them as high risk. How in the world did that work? (BTW, if you don't believe me, just ask and I will send you the time stamped pdfs, with name redacted of course) You know why that worked? Because the brainchildren at the Google owned company forgot to put an ethnicity/ancestry filter on their reports. Instead they just felt that an asterisk would work just fine..... Well Guess what 23andMe, you haven't changed at all. Even after the FDA got on your A$$. Your reports still are misleading and are causing undue angst. Lucky for you, Myself and Dr Lubin are around to pick up after your mess...... Can you see why someone needs to look at and police these reports? This poor patient had serious concerns and when brought to a clinician who couldn't understand the SNP studies could end up with not needed endoscopies which would put the patient at risk. Primarily due to physician malpractice avoidance behavior? Don't think that hasn't happened? Think Again. The Sherpa Says: I am back again at it because clearly the millionaires with a penchant for DNA peddling and CPU coding can not get this right......Clearly a #FAIL [...]

Non-Clinician Misinterpretation of DTC Genetic testing


Ok,In case you haven't all figured it out. Blogs are dead. Mine is too, sorta. I have less and less time to blog as my practice explodes. But there are some things that just merit a blog post.I am on twitter, you can follow me there @genesherpasBut now I am on the Sherpa. Yes, the blog that nearly got me on 60 Minutes and definitely won me the hearts of USA Today to be interviewed...BTW the practice got super busy after that......Today I want to talk about something more serious. The FDA hearings have laid the course clear. Direct To Consumer Genetic testing will be regulated. Why? 1 part potential harm2 parts irreverence for laws and medical regulation 3 parts flagrant misrepresentation of what genetic tests can do.......See Kari S. Disavowal of his company's stupid tag line.......Today on twitter Shirely Wu @shwu retweeted something that was the picked up by @dgmacarthur..... great geneticist, but not a medical geneticist........That was:A thoughtful and eloquent case-study petition to keep genetic testing DTC: from @celticcurse#FDADTCThe problem? I respect Shirley a lot, but this article is not thoughtful, nor is it eloquent. Instead it is full of misinterpretation and IMHO an ignorance of the role of genetic testing in hereditary hemochromatosis.....In no way is HFE genetic testing required or indicated to pick up a person with hereditary hemochromatosis.USPSTF says the harms outweigh the risks of genetic testing for screeningThere are multiple genes involved in hereditary hemochromatosis only testing HFE and thinking you are "off the hook" is stupid.....There are also modifier genes likely too.....In other words, perhaps the cheerleaders for DTCG are misinformed about the true utility of this type of testing. Further, if they knew the literature, perhaps they would be less angry that the FDA(who know the data BTW) want to regulate against these types of misinformed claims that could lead to misinterpretation by consumers and end up fleecing their pockets for fools gold.Let's take this little gem from @celticcurse"A simple genetic test is all it takes to know if hereditary hemochromatosis, the most common genetic killer in America, is in your genes."Bull$h!t buddy.....less than 30% of HFE variant persons ever develop the disease. Do me a favor, partner with a doctor to hack your health next time please......In case you wondered, iron studies are the key to screening. I get them in every northern european or any family history of liver disease, gonadal failure, arthritis, etc......But, the lab heads wouldn't know that. Which is why lab heads shouldn't release discoveries into the wild......The Sherpa Says: This retweet blog post by CelticCurse is an eloquent reason WHY DTC genetic testing should be regulated for claims and use......regulate the medical as a medical test, let the ancestry buffs do their thing sans FDA. End of story guys.....[...]

Coriell and OSU integrate GWAS into an EMR!


Ok, so enough with the acronyms.....I am back and will be blogging more often again. So for those who still lurked around, tell the others that the Howard Stern of Genomics is back. I took a social networking holiday for a solid 2 months, plus the addition of having my practice change quite a bit after my USA Today and follow ups in the local papers.....Today I want to announce that Coriell Personalized Medicine Collaborative and Ohio State University will be using data from an arm of the CPMC and OSU to integrate genetic risk data into the medical record.Correct me if I am wrong, but I don't know of anyone else doing this exact same thing.Ideally they will also continue to roll things in like PGx data. (I know this data will be coming soon)By integrating things like Plavix response, you can make more gametime decisions easily.I.E. Patient presents to the ED with a heart attack. Armed with prior knowledge about plavix nonresponder, you pick Effient.What is so awesome about this arm is that Primary Care Physicians, Cardiologists AND patients will be participating and receiving results.....They will be studying the behavior and knowledge of participants in the study, we have seen other data on this sort of thing, I wonder if we will see the same thing here.For risk data? Probably. For PGx Data? Probably not.Why? A plavix response in the medical record is a game changer.3 Reasons1. The clinician will be hit in the face with a "Plavix doesn't work here"2. The physician may even find they are a nonresponder3. There has got to be some hustling attorney out there, who will be lurking once they see the CPMC/OSU release. I am certain at least the physicians will be thinking so.....You can read the Presser HereThe Sherpa Says: Study of clinical use and behaviors will be key to know how vital this data is and thus how tightly we should regulate its use in medical records i.e. 23andMe clinical BRCA testing! P.S. Like our new crest?[...]

Genetic test may refine PSA or it may not!


I am going to read this article for the seventh time and get back to you this week. In case you missed it, the PR Firm hired by DeCode pumped out a presser (press release), which I refuse to link to directly.....which essentially said "Analysis of Four SNPs, in Tandem With Genetic Risk Factors Detected by the deCODE ProstateCancer(TM) Test, Yields Substantial Improvement in Efficacy of PSA Screening"OK, 4 SNPs tells us whose PSA value is a bad 2.8 vs. good 5.8?Or at least that's what the Kari S. tells us"This is straighforward genetics with direct clinical utility." -Kari S. (Yes they rushed the release out with the misspelling of "straightforward")Ok, so tell me, how has this straightforward genetic test performed in a prospective analysis?What do you mean you haven't done that yet? So how can we have you assert that there is direct clinical utility?We can't. Maybe you meant STRAY FORWARD?Secondly, this study was carried out on Caucasian men, leaving African Americans, who often have earlier and more aggressive prostate cancer out in the dark.......But what really got my Ire was when respected Tweeters started parroting this presser.........Here is some high heat for us genome critics, read the study and read the presser. If the presser hypes the study, we should tear it apart and present the true facts for all to see on the internet.Read and analyze the study, not the presser. I know we are all busy these days, but we owe that to our readers and the public. Hell, that makes us even better than a whole host of journalists who seem to quote Kari as if his opinion is the final take.The Sherpa Says: On seventh read I will have a take on what these "SNPs that strengthen the predictive power of PSA" really mean. [...]

23andKari, what the 99 USD subsidy means for Personal Genomics


Yes, Yes.....Everyones' little heart is a-twitter for the subisdized cost of 23andSerge, now to be known as 23andKari (will tell you why soon) a whopping 99 USD. Which I had been saying is the correct price point for about 2 years now.Yes, finally, something other than a blimp and million dollar parties will actually pull out the lurkers.....Here's my take. There was a company in a galaxy far far away, Iceland. That was the toast of the town in 2004. Why? They were collecting genomes for a grand experiment. They were going to discover fantastic links to disease and sell access to the highest bidder. While they did produce some great Nature papers......what happened to DeCode?I think we all know.23andKari has now emerged. The front end.....happy shiny ancestry and disease links.....I have forgotten to mention that the FDA still hasn't finished working on these companies, have I?The back end? A database of genomes to cull for disease links to be sold at the highest bidder?Sound familiar??In case you forgot, Kari did this with Gulcher and went belly up.......And BTW, who owns that genetic data now? Is it getting resold?Celera too?Also in case you forgot, this is a rock bottom version of Navigenics game...How's that working?I think 23andKari will actually survive. Why? Huge megacorporation investment. That's why.GOOG own 23andKari now. Your data? Wrong! Theirs. Now that they are being investigated for antitrust in the EU, they have to move quickly on this phase......I have said it before and will again. Why sell Manhattan for bobbles and trinkets?Because it's cheap, that's why........Hell. IMHO, 23andKari should be paying you for your genome.I hope the lab 23andKari is using is up to snuff this time.....after that whole sample swap issue, they are about to get a whole lot more volume.The Sherpa Says: Democratization is about to go the way of Russia and it's oligarchs...[...]

23andMe going infomercial style!


Dan Vorhaus points out the Plan B for 23andSerge!

Personally I love the irony of naming it "Plan B"

MSRP 499, but yours for the low, low price of 99 USD.

QVC, here we come!!!!

Respiragene Test and CT Screening for Lung Cancer?


I love personalized medicine.I absolutely think it is beyond fantastic to be able to say to a patient "This is the drug for you"Or, we need to screen for disease X because of Gene Y and your family historyBut what I don't love is companies purporting the import of their special home brew test to do personalized medicine without any sort of data backing them up.A news report and "AACR Feature" highlighted precisely that. A test with no data......From the article:Researchers administered a gene-based predisposition test that incorporates 20 genetic markers associated with smoking-related lung damage and propensity to lung cancer along with clinical factors including age, family history and diagnosis of chronic obstructive pulmonary disease to derive a risk score on a 1 to 12 scale with higher scores correlating with higher risk.Ok, new score with 20 markers, family history and age and clinical data....sounds reasonable. Has anyone else validated this tool????Ahem. Crickets.....“At scores of 6 or more … only 25 percent of otherwise eligible smokers would be screened but over half of lung cancers would potentially be detected, many in a treatable stage,” concluded Young and colleagues, who suggested that increasing the detection rate of lung cancer per number of patients screened could improve the cost-effectiveness of CT screening.Ok, so did you get the jump? Did you catch it? "Who Suggested"This guy who designed a genetic panel AND NEVER TESTED IT IN CONJUNCTION WITH CT CHEST SCREENING, is suggesting that using the test could increase the cost effectiveness of CT Screening, without one single solitary IOTA or shred of evidence of this.This would be the same Dr. Young who found that genetic testing for a smoking cessation program likely doesn't have cost effectiveness or at best is uncertain.Last year they were still researching this panelYet Respiragene is being held up as a great test!One word that makes me suspicious is the word "Testamonials"That word alone reminds me of the time I was bamboozled into going to multi level marketing events for proton pills and the like. You know, they all had lots of "Research" behind them.Put simply, we do not know if gene screening PRIOR to CT Chest screening for lung cancer does any of the following things1. Make CT Screening more cost effective2. Personalizes medicine, targeting radiation to only those who need the test3. Improves outcomes and detection rates of lung cancer.That research is not available today. Nor will it be in one year. My Advice, hold off on this one for now.The Sherpa Says: Parroting an esteemed researchers OPINION as if it were scientific fact is a great way to get yourself in trouble and an even greater way to confuse the community! But it is the best way to get a test sold.[...]

Pulitzer Prize Winner Amy Harmon hosting ethical dilemmas!


How do you face life as a 22 year old if you carry a genetic variant for an incurable illness that will most likely strike in middle age?

That's right,

Amy Harmon is hosting a fantastic course that will be starting November 15th. You better hurry up and register because space is limited and closing on the 14th of November.

What will be covered?

The course will have weekly live online sessions with the instructor as well as self-paced lessons filled with original content covering the weekly topics. All live sessions and course material can be accessed directly within the online course.

Prenatal testing can go into deep detail about an unborn baby’s prospects for the future. How much of this do we want to know? To share?

These questions and more will be addressed. If there is one thing I know. Amy is certainly a fantastic teacher, educator, and discussion leader!

I do miss conversations like those with her!

You too can have that kind of expertise. Register before November 14th!

I am certain you will enjoy this set of topics and have directed many people this way already.

The Sherpa Says: Family history picks up life threatening disease, DTCG tests probably not so much. That being said, what's the ethical quandry with either? Ask Amy and find out!

Consumer Genetic Testing for heart attack risk? Worthless!


Here are the top ten reasons why in its current state, direct to consumer or otherwise, genomic testing for cardiovascular disease risk is dead in the water 1. Family History Risk paints a far better picture and IT IS FREE2. Reynolds and Framingham risk paint a more accurate picture3. An independent panel has reviewed 58 variants, 29 genes, and gave the thumbs down.4. The highest increased risk from any of these tests is 30%, Fam Hx can be as high as 500%5. Kif6 was just shot down as a useful marker.6. Clinical Utility has not been evaluated in ANY of these tests. 7. Spit Parties don't lower cholesterol8. The FDA is hunting down these type of crazy claims!9 . Topol's heart attack gene didn't pan out, why would these?10. A recent 23 gene panel failed to make the grade as well.Let me be crystal clear. I am glad that the number one reason for ordering a DTCG test was curiosity and not true medical concern in the "early adopters"But I am concerned that may not be the case for the next wave. I am concerned they will take these genetic tea leaves and use them. The problem, most of these tests are disproven or will be in the next couple of years.Loose associations with small increased risks sounds a lot like fortune telling or phrenology. Or hell, even birth order....Someday we will have good predictive models, 10-15 years from now. But NOT Now! Do you hear that VC country, SV, NYC, Hedgies?10 year exit strategy. Not 2 not 8. So stop hyping this bull$h!t and go invest in Gold or Commodities or something for the love of god!The Sherpa Says: Did you hear the one about the research geneticist? He keeps telling his wife how great their sex life WILL BE! Someday we will have this tool, let's try not to burn out and cynicize the public yet.....HT Francis Collins[...]

Family History Better than Navigenics/DTCG Shill for Cancer Genes?


Yes,You heard it here. A recent study abstract and pressed about from my friend Charis Eng MD PhD, Clinical Geneticist, Internist and all around really smart lady spoke today about her findings of a head to head, DTCG vs Family History at discovering cancer risk. You can watch the webcast about it here!I actually sent some data Ken Offit's way about a similar thing way back when, Ken is yet another, really smart guy. He wasn't surprised. Nor was I when I heard Dr. Eng's findings.First, Caveat Emptor This is an abstract! Repeat after me......What does that mean? 1. It is not peer reviewed fully2. It is not published yet3. It is preliminary dataThis test was Navigenics Compass vs Family History in 22 females with breast cancer, 22 males with prostate cancer and 44 people with colorectal cancer.What was the result? Family History placed far more people in the proper high risk category. 8:1Family History put 22 people in the appropriate High Risk Hereditary Category, DTCG only one.Further, it looks to me that the Navi "Gene" Scan missed several high risk patients who actually had MMR mutations (I.E. Genetic Cancer).....D'Oh.First off, this is like a case study. But it signals a HUGE shortcoming of DTCG. False reassurance.I have been beating this over the head for 3 years now! These tests that have "medical" relevance need to be couched with proper medical guidance.I told Mary Carmichael of Newsweek this!This stuff is medical data and I Told Thomas Goetz of Wired this!Even the WSJ has gotten it!There are huge shortcomings in the current offering of DTCG tests and those offering medical information need to be regulated as medical. This is a classic case in point of potential and REAL missed cases.Not Good. That being said. It is November AKA Family History Month. You should absolutely take your family history and bring it to your doctor. If they don't know what to do with it, call us. We do.The Sherpa Says: No surprises Charis, I saw this with some DTC cases I have had, passed it on to Ken who passed it on to NIH and The IOM. This is the huge problem with hype and over promise. It always fails to deliver, unfortunately in this case at a great risk to consumers.[...]