Take that atta boy Back! Time to use sound judgement against 23andMe.

I would like to take the Atta Boy back.

Huh? Yes, the one I gave 23andMe. Yes I commended them for destroying a DNA sample and confirming that they are only testing your DNA, one time and then destroying the whole sample.

Why might I take that Atta Boy back?

Because they are acting like business people again.........

In a not so certainly socially responsible move, which was alluded to by the Girl with the BS from Yale Anne.

Wojcicki: One of the areas we've talked a lot about is pharmacogenomics--being able to say, should you take ibuprofen? Or if you have a new baby and you're flying to Europe, should that child take Benadryl, or will it make them hyper?

Daniel over at Genetic Future points out another well designed marketing ploy by 23andMe.....

Why? Well, everyone in marketing knows it is WAY CHEAPER to get a previous customer to buy again, than it is to find a new customer........

In this case, that customer can "coerce" their little one to donate 2ccs of saliva and their DNA (which BTW is not that much) but could cost a ton!

Well, as Daniel points out.....The professionals who have been doing genetic testing for the last 30 years or so have gone round and round about the ethics of testing minors. The conclusion is that if there is nothing that will immediately impact their health or endanger them, it is probably not the best to do genetic testing on a child who is incapable of consenting. Even then you can not expect the damage that may be caused......this case study indicates that..nonetheless, there is a debate. Between those who care for patients.....But 23andMe never took the Hippocratic Oath.....I Did....Primum Non Nocere! "First do no harm!" Some even advocate the screen the parents for the maturity and ability to comfort their children PRIOR to testing.....That is probably the best modality to please both sides!!!!

More importantly, it is probably a moral quandary when you remove that child's autonomy in a situation where it is extremely unlikely that the results will do anything to better that child's health or well-being.

So I can hear the argument now. Well, if I learn about the parkinson disease that my child is predisposed to, I will be better able to help them prevent it....

Bul1$h!t.....Which 23andMe test can do that. And BTW.....aren't they NOT practicing medicine.....and Aren't you NOT supposed to use this information in medical decision making???

Not according to investor Harvey Weinstein....

"I think it is a good investment. This is strictly medical and business-like."

This is a blatant attempt to get more tests in. Even worse, this is an attempt to do a cohort study on child participants without the ethical oversight.

Once again. Shame on you 23andMe, just when I thought you were coming around....I begin to realize what you are.....an unethical scientist..........

1. No IRB

2. No special provision for those special subjects (in this case children)

Instead what you offer is a silly blurb on your Q&A board!

Can I use the saliva collection kit for infants and toddlers?
The saliva kit we provide for participation in our service is not optimized for children under three years of age. If you are purchasing a kit for an infant or toddler, it may be difficult to obtain the required amount of saliva.

This is it. I have had it.....

Every time I think you are doing something good.......you crap all over it by doing these sort of things.....essentially ideas that could only be hatched by someone who is not mature enough to handle the technology!

Here's your out.....just say your investors made you do it.........

Russ, how can you advise them that it is ok to do this???????????

From the Department of Health and Human Services

The special vulnerability of children makes consideration of involving them as research subjects particularly important. To safeguard their interests and to protect them from harm, special ethical and regulatory considerations are in place for reviewing research involving children. Title 45 CFR Part 46, Subpart D provides for "Additional Protections for Children Involved as Subjects of Research." Research that is contrary to the rights and welfare of child-subjects is prohibited. A good summary of the ethical considerations surrounding research involving children can be found in Levine (1989).

Just to remind everyone...children are vulnerable subjects and should be treated as such......not as a hassle that needs to be sedated on a transcontinental flight.......

Wojcicki: One of the areas we've talked a lot about is pharmacogenomics--being able to say, should you take ibuprofen? Or if you have a new baby and you're flying to Europe, should that child take Benadryl, or will it make them hyper?

You keep doing it again and again.....Putting a research scientist on your blog who had said that finding out if you were at risk for Multiple Sclerosis was "Fun" and having her tell who she unethically tested her kids is not exactly responsible either....

The boys do share the Alzheimer’s disease-associated APOE gene region at 100%, however. So even though we don’t know their genotypes because 23andMe doesn’t report on that gene (yet), we know the boys have the same genetic risk.

So how do you counsel that Joanna?????

The Sherpa Says: For those who have the power, they shall lose it if they don't demonstrate responsiblity.....this election will demonstrate that.....hopefully the government will be responsible and not let their citizens expose their children to risk without some consideration first. 23 and Me, get an IRB......Your actions and comments are starting to reveal your hubris....

Destroy the Sample....Save the World!

I am so very proud of 23andMe. There was some big issue with their consent and policy, in fact something I expressed grave concern about. That was the indication that 23andMe/Google would own your DNA sample.....

From their site:
With the exception of your saliva sample, 23andMe does not claim ownership of the materials you provide to 23andMe (including feedback and suggestions) or post, upload, input, or submit to the Service (collectively "Submissions")

Yes.....it was a natural conclusion. Especially when the website indicated that the sample would be the property of the company. This is the case with many other things. If you mail something to a company, the company then assumes ownership of it. In this case, I had very grave concerns that 23andMe could (not necessarily would) run other tests on your sample without your permission. Heck, they could even use it to clone you....why? The DNA was theirs, not yours. Scary at best!

But now in a wonderfully socially responsible act they include this in their informed consent.

Genetic Data: The laboratory processing your saliva sample will analyze your DNA to determine your genetic information. The laboratory will not analyze your saliva for any biological or chemical components, markers or agents other than your DNA. The laboratory will not have access to your name or your other personal information. A unique bar code will allow 23andMe to link genetic data derived from your sample to your account. After analysis, your remaining DNA and saliva samples will be destroyed.

Hooray!!! 23andMe, thank you so much for clearing that up. This was the really big issue I had with your service......there are several other little issues, including the possibility of someone else getting your DNA and submitting it to 23andMe...but heck, you guys can't control all the nefarious people out there.........yet

I know that I am tough on this company.....and for good reason.....Everyone else is cheering them on. If you have no critic, how do you judge yourself? This company is going to be around for a very long time, so I ask them to remember that they are the role model for others who will follow.....

Maybe that's why I get so mad at them.......Maybe they haven't heard Uncle Ben's quote.....

"With great power comes great responsibility"

This is even more important as the echoes of detractors starts to grow!

The Sherpa Says: It is nice to see 23andMe take this big step.......

Genetic Counselor sells suspect genetic tests!

Has anyone seen this company yet? Jordana J and Access DNA.

Jordana and the "Team" at Access DNA have a form which evaluated my extensive family history and have come up with a list of genetic tests I should be tested for......little did she know that this was a list for the Sherpa and the she as a Board Certified Genetic Counselor would have to be walking me through each and every one of these tests......Her "team" by the way is only her and some advisors.....2 of them have medical degrees, but none of them are giving advice...other than Jordana.....as far as I can tell........

So today I will call Jordana J and see if she can talk to me about some of the "recommended tests" and conditions....such as:

1. Whole Genome Scanning for Aneurysm Risk (Bogus)

2. Whole Genome Scanning for Asthma Risk (Suspect at best)

3. Whole Genome Scanning for Athletic Performance (Why not just play a sport?)

4. Stool Screening for Colon Cancer @ 575 USD a pop (Uh......family history?)

5. Whole Genome Scanning for Heart attack at 2500 USD a pop

6. Weight loss SNP testing for 424 USD.....(Maybe my pockets will be lighter)

7. SNP testing for lung cancer predisposition (What are THEY smoking?)

I hope you get the picture, these were just a few of the 37 genetic tests this board certified genetic counselor recommended I get.

The Sherpa Says: When the NSGC blasts me for pointing out that genetic counselors were never medically trained AND that they couldn't explain PgX or other medical conditions without a physician involved.....I find this....Jordana J, board certified genetic counselor going out and pushing suspect genetic tests. NSGC better get a hold of their membership. This is precisely my concern.......Does the phrase "Over your ski tips" sound reasonable? This is why physicians and counselors NEED to work together on personalized medicine, not CGCs alone on an island! Like the CGC at AcessDNA.

You gotta love it!

It's mid-morning and the day is just getting moving. We had a round up today and talked about Brugada Syndrome. I think this is a wonderful topic and it was presented very nicely. It was also a timely topic......

You see Dr. Look, an internist in Germany commented on the lack of medical training for human geneticists. I think he is right. In the US, Human Geneticists are PhDs whereas Medical Geneticists are Physicians who have extensive clinical training. Yet, when genetics is taught in medical school (In year one and never again) it is invariably taught by Human Geneticists.


So why is this important? Brugada Syndrome is a condition that causes dysfunction in cardiac ion channels. This pathophysiology underlies the clinical manifestations of Brugada syndrome (cardiac channelopathy). In 10-30% of patients and families, mutations in the gene SCN5A, encoding the cardiac voltage-gated sodium channel Na1.5, have been reported. It causes deadly heart rhythms. Most people present with sudden death while sleeping or resting.


More importantly the disease often occurs in adults. Most likely in 30-50 year old men in a sex skewing of 8:1 penetrance. This doesn't mean women never get it. In fact they may have the mutation but never dies of sudden death. But here is the bigger issue.......why aren't geneticists seeing this condition? In rounds today, the other geneticists said "If this disease is 1 in 2000, why aren't we seeing it? That is way higher than NeuroFibromatosis or metabolic diseases!"





They are correct. Even Long QT syndrome which is 1 in 7000 is seen more often in cardiogenetics clinic. Long QT presents in childhood and sometime early adulthood.





I have the answer....... Brugada Syndrome presents as an adult condition. Most adult doctors don't even know genetics is a specialty, so why would they refer the patient? Heck, they do hemochromatosis testing for patients, so why not add this into their repertoire???


Here's why.....the gene can have several implications for family members and internal medicine doctors are notorious for the 1 patient 1 doctor philosophy.......


We aren't just testing the patient when we do a genetic test. We ARE testing the WHOLE family!

I find this crazy that these patients are a rare bird/Zebra in cardiogenetics clinic where they deal with genetic conditions and the heart. Why?

They are likely not being identified by anyone. Yet they are seen in 1 in 2000 people, much higher than some "Common MonoGenic Diseases"

What is even more funny is that at my residency program at a sleepy 190 bed hospital, I diagnosed 2 of these by EKG and identified 2 family members by testing. In ONE YEAR..........

In fact one of the cases had been identified as having a heart attack. The whole pathway to give this patient blood thinning medication had been started. But on EKG, the diagnosis was clear. the pathway was stopped and the patient was diagnosed. But I wonder how many times people like this get a cardiac cath. You see, the EKG finding can look like a heart attack can on EKG.....

After the rounds were over one geneticist commented that at least we would be able to build awareness at a grand rounds we were giving................In Pediatrics......

The Sherpa Says: We have to go and get out in the face of Internal Medicine Docs and tell them about this condition. The best place to see them is in Internal Medicine Grand Rounds and on the wards. So I tell Doctor Look and all my other IM brethren, go learn about this condition.....you may truly save a life......and THEN refer the patient to your friendly neighborhood geneticist! We are out there, just look for us.....

Reader's Points and Clarification.

Dear Sherpa, I am an avid reader of your blog and quite often marveled by your great writing style.

Today, however, I cannot resist to add another point to your list:
The sherpa says and might be right in saying so:
"7. The lack of medical training for genetic counselors
8. The lack of genetics training for medical professionals "

Dr. Look (me) would humbly like to add:

9. The (frequent) lack of medical clinical experience/training for human geneticists

Keep up the good work
Regs Dr. Markus P. Look,
Internist Bonn, GERMANY


Doctor Look,
Thank you so much for your comments. I would like to add that the street runs several ways. We have several shortcomings. In the United States in order for a geneticist to train in Medical Genetics (which is a 2 year program), you must first have 2 years of clinical experience in an ACGME accredited residency in just about any field. Most medical geneticists are pediatricians. This is a natural extension as the majority of classical genetic diseases start in childhood. However, there are a little under 100 geneticists trained in Internal Medicine. Approximately 1 in 10......

So I may agree that most medical geneticists are not Internists, but there are many who at least rotated through IM in medical school and elder statesmen who are internists who grandfathered into pediatrics. Much more clinical exposure than new graduates of genetic counseling programs....

But I do agree.....as genetics changes from a small sub specialty of pediatrics into pediatrics becoming a small sub specialty of genetics...we will most indubitably need more IM geneticists!

Linked together into a network preferably......

That's why I am up here at Yale.....

The Sherpa Says: If you don't know about the 24th specialty in medicine, how would you ever know how to refer to them? Looks like the ACMG needs to hire 23andMe's PR firm!

The Howard Stern of Genomics......

The other day I was talking with Misha Angrist, who BTW is writing a book about this great adventure known as personalized medicine....... I had been telling him about how my views had been pissing off a lot of people. He said to me "You certainly have a skill for that" indicating that my proclivity for hyperbole was what could eventually put me under.....


I resort to hyperbole when I think something is so outrageous that I need to go crazy. That's why some have dubbed me the "Howard Stern of Genomics" (Thank you Jeff Gulcher for the monniker). I am still looking for my Stuttering John.....


But in all seriousness, I see some big problems with this ecosystem. I think the problems are on several fronts and we need to attack each one. Why? Each problem in itself is not a reason to go crazy, but when I see them all in the big picture.....I gets my goat. These problems are the proverbial 800 pound gorillas that the field just doesn't want to address unless it is pout out there against their will.....


Now can you see why I have mentioned problems with:


1. DTC genomics


2. Public genome exposure of uninformed participants


3. The woeful lack of genetic competence by doctors


4. The pi$$ poor reimbursement rate for services


5. Patent protected genetic tests


6. Silly CEOs not having a grasp in reality, or distorting it to promote/hype genomics


7. The lack of medical training for genetic counselors


8. The lack of genetics training for medical professionals


9. The horrible job of reporting genomics to the public


10. The lack of reputable VC/Investment firms willing to take a hit and invest in soically responsible genomics.


11. The fear of businesses upsetting their customers by speaking the truth....





So as you can see, I have had the chance to piss off just about all of the field.....and have done so in many ways.....





Do I do it for spite?


No.


Do I do it because I dislike each and everyone of them?


No.


Do I think they are doing good things?


Yes.


Do I think we could do things better?


Absolutely..





So if you are one of the myriad of people that are upset with what I have had to say......rather than get all mad and speak ill of me at cocktail parties or try to get my friends and coworkers upset with me or any other completely destructive things you are looking to do....





Ask yourself........."Is the Sherpa right?"


If I am not....then feel free to flame me.......


But if I am right, have the guts to admit it and go about changing our ecosystem.





Yes, I AM calling you out!





-Steve

Why genetics takes time and why insurance sucks.

With all of this hubub about SNP testing, DTC ordering, the role of the physician and why healthcare is in a crisis....... I wanted to point the most serious issue. The lack of reimbursement from insurance companies.

You see, the big reason any venture capital firm would want to invest in a big DTC testing company is that they can sell something which is automatable and scalable. It is the perfect product......you see, they can collect cash day and night, 24/7, online and not have any human interaction, except when the specimen gets to the lab. Heck, they can even automate that too these days. So in essence you could spend little and collect a lot....in the biz that is what's termed a "Home Run". Not exactly socially responsible, but you can have PR firm spin that for you anyways.....

You see, that's why do it yourself genetics is great. You never have to pay for expensive doctors or counseling...why? With these social networks, people will "Google it" to figure out what the heck is going on.....in essence people will become genetic hackers.....

The most scary part of that, is the "hacker" will pass along legend and lore, medical misinformation, hence becoming dangerous to others. This is precisely what alot of medicinal quackery was prior to evidence based medicine.

This was merely observation and not subjected to rigorous scientific analysis. Even worse, these days, bad science or preliminary findings published in a "Big" journal can also get passed along "As If" it is now valid medical care. "Hackers" love that sort of thing, because it "sounds" true...

Why am I bringing this up? Because, investors don't care about evidence base or if the patient will be better because of a test. They care about getting alot for a little and making money on their investment.

So where can you have the opposite? Where you make a little for a lot?

Medicine, I mean real medicine with doctors and nurses and hard work....not exactly Do it yourself......

Why am I so down on insurance? Let me give you an example.......If I was an attorney charging per hour at 350 USD per hour versus a doctor charging insurance for a 99245 which as I told you before pays on average $256 NOT per hour, per visit...

Here is a typical medical bill, marked like an attorney's bill:

• Reviewed/Returned email from patient 15 minutes


• Phone call to Radiologist X who read film and reviewed with me 30 minutes


• Reviewed chart sent by PMDs office 60 minutes


• Literature review regarding disease X 20 minutes


• Phone conference with PMD re: differential diagnosis and plan 20 minutes


• Confirmed appointment with patient and discussed concerns 15 minutes


• Appointment with patient 80 minutes


• Total Hours 4 hours


• At 325$ per hour and 10% Professional Discount 1170 USD

What does insurance pay? 256 USD dollars, I hope you can see why the system is failing.........

Why in the world would any VC want to fund such a labor intensive service......Insurance sure as hell tries not to. Why do I say this? Because every single other professional in the US bills and gets paid this way but not the doctors.......in fact, for every person who pays for these services we could serve probably another 1 or 2 patients pro-bono.

So what happens when a patient wants a DTC test with a doctor interpretation?

Good question....I am not certain how one would bill for interpretation of a 1 million SNP scan. I guess you would have to take a family history and look for a diagnosis....Heck, if the patient walked in the door, you couldn't even bill for a 99245, you would have to bill for an in office evaluation which pays even less than the 256$.....

But here is the problem......most patients don't want to be hackers.....most patients want to speak with a doctor......preferably a doctor who knows what the test they just took means......

So I ask you.....Is it really greedy to ask for 1000 USD for an intake? Especially when billing insurance means you can't spend the time you would like on the case, or even worse, if you do spend that time today......will you be in business tomorrow???? A classic example.....DNA Direct charges 3456 for BRCA full sequencing, yet Myriad only charges 3120 dollars. Because they don't mark up their test, the 2 mandatory genetic ocunseling sessions at DNA Direct cost 356 USD.....if insurance paid for that it would be 120 USD.....No business can afford to use insurance to reimburse for Genetic Services........period! Interestingly Myriad cuts the cost for NIH research to 2500 USD..... So one really wonders what the test costs.....I know for sure what the manpower cost for evaluation is!

The Sherpa Says: To really get personalized healthcare we need to radically change how healthcare is funded. The paper pushing...the coding....the lack of pay......they all need to go away......or heck, maybe someone could just automate all of that crap and let us get back to caring for people, NOT ICD9's.......