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

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 fully

2. It is not published yet

3. It is preliminary data

This 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. 8:1

Family 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.

No more 23andMe blog posts. The Sherpa has achieved his goals.

I am absolutely done talking about 23andMe.

Yes, you have heard correctly.

That doesn't mean I will stop watching what they are doing.

It means that I have coerced them into doing what's right. For now.

From the very beginning 23andMe had potential, heck Dr. Jeremiah Mahoney told me they came up to Yale to see them.

They must have not liked what Yale said, because they went further up the line and partnered with George Church.

Well, they def. didn't like what I had to say.

I had even conjectured about DTCG and what this landscape may look like and even warn about the shortcomings,
I had been pointing all of you to SACGHS to watch where this regulatory environment may go. The environment was heated with these companies going in.

So I knew I had to pay attention to what they were doing, especially the Google Backed company.....

First when these companies launch

1. I immediately point out 23andMe isn't using a CLIA certified lab which gives me grave concern over the seriousness with which they are doing testing. A-la Garage lab versus proper human sample processing.

2. I complain on Daniel MacArthur's blog about the obvious rookie blunder this company with no healthcare experience in leadership makes

Then 23andMe uses a CLIA certified lab

Second, I tell you that the states who have serious laws against DTC will shut down these companies quickly

Then they shut 'em down for a bit. And I gloat


Third

1. I complain that FDA needs to get their act together and in 2009 23andMe began doing absolute truly clinical testing with BRCA testing.

2. I point out the SACGHS feels the same way too and also complains to the FDA

3. I point out that 23andMe has no clinical clue what they are doing with PGx

Guess what? The FDA finally rules for regulation.

Lastly,

1. I complain about this research revolution akin to Tuskegee or other non IRB approved "research"

2. I point out that Google has off shore servers to hold this data free of US regulation.

3. I say that they are coercing subjects and offering discounts that wouldn't fly in an IRB

Today, they announce they have obtained IRB approval.

But I have my doubts as they have flaunted loopholes in laws And seem to point that out again today, or at least their blogger does.....

"our research technically does not require IRB review."

So I guess I will have to keep posting until these guys stop skirting lines..............Nevermind

The Sherpa Says: Yes, why keep it up if they did what I asked? Because they will do it again, even if it takes an act of Congress. Why do I ask? To protect the patient and consumer from mega corporations whose interest is anything but patient empowerment.

I am glad we can all put this behind us. FDA rules on DTCG.

As you now may be aware. DTCG is considered a medical diagnostic according to the FDA. I look forward working with companies who may now allow me to use their tests for medicine.

The Sherpa Says: If we work together, we can deliver the best preventative and personalized care in the world!

5 Days after the Quake Critique

I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?

Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?

What did my review say? You can read my analysis of the Quake Paper here.

I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.

Maybe no one read the viewpoint?

Today I was able to read the

"Challenges in the clinical application of whole genome sequencing" Viewpoint from Ormond et.al.

It echoes every single thing I have been saying for the last 2 years. Not that any of this is news for those of us in "the know" But it is confirmation that people who include a DIRECT Advisor to 23andMe agree with my stance.

However, there are some things in the paper that I disagree with.

1. "The author assumes that because of the rapidity of cost decline with WGS (whole genome sequencing), that it will be used more and more in Medicine."

I disagree.

Payors, Clinical validity and Exposure to malpractice risk will determine the uptake in the clinic

2. "Reduced sequencing costs seem likely to cause a rise in WGS"

I disagree.

Perhaps in research this will be the case, but for customers, who are now staring down the barrel of an FDA investigation, House of Reps investigation, they may think twice. No matter what Oprah has to say.

3. "even if that information averaged only 3 min per disorder, this process would take more than 5 hours of direct patient contact, after many hours of background research"

I disagree.

The average time per disorder would be at least twice that, meaning ten hours of direct patient care. Which on my clock is about 4000 USD, at least.

4. "As academics, we often assume that information is good and more information is better. but more information can sometimes be counterproductive"

I agree whole heartedly.

I know many excellent academicians who say "Garbage in, Garbage out" or "Information is just that, but Noise is Garbage"

The Sherpa Says: We need to bite things off a piece at a time. That is the problem with whole genomes. People will need to be revealed information in a staged fashion WITH SKILLED CLINICIANS. Nice to see Russ B Altman MD et.al., advisor to 23andMe agree with what I have been saying over the last 3 years now.

Breaking 23andMe's Terms of Service: Not just the patient's problem.

A blogger over at 5Am Solutions Blog is about to break 23andMe's Terms of Service.

"So I called my primary care physician's office and told the appointment-taker I wanted to discuss my 23andMe results with my doctor. She said 'ok' and scheduled an appointment for next week."

May I just add. It is not the doctor breaking the Terms of Service here. It is the customer by bringing it in to their doctor.

From Andrew Yates Blog at ThinkGene

"BOOM! That patient coerced that doctor into malpractice liability.Section 3 of 23andMe Terms of Service: “The Services Content is not to be used, and is not intended to be used, by you or any other person to diagnose, cure, treat, mitigate, or prevent a disease or other impairment or condition, or to ascertain your health.”

The worst of this is that 23andMe ACTIVELY INSTRUCTS its users to violate this clause —not only personally, but to also implicate their medical doctors in crime.

And the doctor is trapped: he can respect the law and alienate the patient, or ignore the law and appease the patient."

Oh, wait. Maybe by using 23andMe I am now involved in their legal mess? Crap!

That being said, I just received the Counsyl results from one of my patients yesterday. Unlike being put in a risky position by the good folks at 23andMe, Counsyl is straight up clinical and useful.

I will be notifying the patient via secure email of his results and spending an hour going over it with him.

The Sherpa Says: 23andMe, just like others in the space have demonstrated a general disrespect of the precarious position they have put physicians in by using such crazy and convoluted Terms of Service to avoid regulations. But heck, why should they care about the hot water they put us in.

Thomas Goetz has the wrong debate. FDA doesn't intend to restrict.

I think everyone in this space has been way off base as to what the problem is with FDA and Congress wanting to investigate the DTC Genomics companies.

The whole mindset is wrong.

What I hear from this debate is "It's my data, mine, mine, mine. Gimmee, Gimmee, you can't keep me from my data Big Brother!"


From Mr Goetz's Blog
"The controversy seems to have stirred the FDA to assert its authority – and that of physicians – over any and all medical metrics."

"To me, getting access to this information is a civil rights issue. It’s our data."

This is a straw man argument that has been set up to make regulating these companies seem unseemly and an invasion of privacy.

IT IS A DEAD WRONG ARGUMENT and I will not stand for it being perpetuated anymore.

This is not about getting access to your data.

Fine, you want a whole genome, go get it!

The FDA is not asking should people be able to go out and buy this. It is asking several other questions.

1. Is Interpretation of biometric data considered medicine?
The answer here is certainly confusing. I think it rests solely with intent.
Do you intend to tell someone something about a disease they now have based on this biometric data that you analyzed?

If the answer is yes, that is viewed legally and medically as a diagnosis.
Which ultimately I think is medicine and falls under medical regulations.

2. Is DTCG analyzing biometric data and intending to give an interpretation of that data which indicates a disease a person has?

It depends on what you define disease as.

Most legal experts defer to the International Classification of Diseases

3. Should we regulate a system which has not given indication of their quality control if they are indeed intending to provide medical diagnosis?

4. Are these methods of obtaining human samples to derive biometric data for the intent of analyzing and providing information about disease considered medical devices?

This is precisely the argument and precisely what Congress and the FDA are trying to define.

So stop acting like a bunch of little kids running around because someone took your kool aid away!

If I hear another, "It's my data" whine again I will scream.

This is not about restricting access to biometric data.

Which by the way, some states do already.

Is an EKG biometric data? What about a cholesterol?

Probably, no one is stopping you from going out and buying a machine to obtain this data yourself.

But any doctor will tell you, it is the interpretation that can vary widely. As demonstrated by the multiple interpretations that Venter et.al complained about

What they are intending to do is to prevent a third party from having NO ONE to answer to when providing interpretation of that very SAME biometric data.

The Sherpa Says: Regulation here will most definitely not stifle innovation as bad as a consumer death or class action lawsuit or lack of trust from consumers because of the aforementioned.

2C19, Navigenics and Clinical Reality.

Ok,

I would like to welcome Navigenics to the world of Clinical Utility. Just yesterday they announced their pharmacogenomics panel available to both consumers and physicians. It is about time!

However, the problem I see is threefold:

1. Where is the price of the test? Anything more than 200 won't work.

2. Is there a change in the terms of service, which allows me as the doctor to use it?

3. Will insurance pay for it?

Let's say that this is not intended for the doctor but instead just for the patient/consumer. Which Navigenics has agreed NOT To Do, At least in NY.

What exactly do you expect the consumer to do with this information?? Stop Plavix? Don't you Dare!

Write themselves a prescription? Ummmmm, OK.

Oh No, these tests are specifically for medical use.

Disagree? Merely the information itself is important? What good is information without ability to act on it? maybe you should ask Cassandra?

There are multiple companies out there offering PGX testing in one form or another. This makes the following questions of utmost importance

1. Which SNPs are tested?

2. Can you really trust a genetic counselor to give you advice on medications? How many have they prescribed? No offense, just reality.

3. Will the laboratory results and work in a clinical setting, integrated with clinical care?

Just because you're a great product backed by venture capital, with with analytical validity and the plan to get to market doesn't mean you will succeed in the market. Why? Most consumers still trust genetic testing decisions to be made by the doctors.

How do I know this? I'm the doctor. I am licensed to give clinical advice.

The Sherpa says: Why these DTC companies try to cut out the doctor is beyond me.

99 USD, DNA day and patient letters

Yes,

What a great DNA Day!

Today started with my twitter feed notifying me that 23andMe had dropped their prices to 99 USD today. Which almost had me encouraging people to get testing, until I remembered that 23andSerge would then have your DNA..........FOREVER!

Then I opened my email and read this great note

"Dear Dr. Murphy,

Thank you so very much. I am so lucky to have found your team. Who would have thought my Plavix might not be working for me? Only when you told me about how it could not work did I realize that I might be taking something that is worthless. Thanks for testing me. Now that I am on Effient I feel much safer!

Thank you Dr. Murphy,

You saved my life!"

That's right. A genetic test, may have saved this patient from a heart attack. A genetic test I do regularly. Who has this patient's test result? Not some corporation that will use it for profit. No, just me, who will use it to act medically. While as these other services say explicitly, YOU CANNOT USE IT FOR MEDICINE!!

To be certain, you should not stop your Plavix WITHOUT talking to your doctor first!

Shame on them, their test could save a life. But not according to their TOS.

I will be speaking at the Consumer Genetic Show about precisely this problem and others. I was so surprised that they asked me to speak. Especially after the beating I gave it last year.

But on this DNA Day I am here to tell you, the public is aware now. DNA testing does hold promise, but only when in the right hands.........

The Sherpa Says: Pharmacogenomic testing IS MEDICINE. It is NOT FOR $H!T$ AND GIGGLES! Happy DNA Day!

Holy Crap! MedCo Follows in CVS footsteps

By December 21st the writing was on the wall. It was pretty obvious CVS/Caremark had jumped over the number one PBM in the field MedCo.....

How so?

Well, the increased ownership in Generation Health that CVS/Caremark laid down was the way.....

The newest of the benefits management companies.....this time the focus was on genetic testing benefits.

Personally, this type of company should have been formed in 2005 when Insurers were hemorrhaging cash from those BRCA tests........

But, slow and deliberate do Insurers move....

On the 21st it of December it was all but decided for MedCo. Ummm, Ummmmm, who looks like this Generation Health company?????

I knew back then and now everyone knows today.

MedCo buys DNADirect.....

In 2005 when My Partner at the time Leslie Manace went out to "see" Ryan...... In what turned to be a huge probe of Leslie by Ryan, Ryan revealed......"We are interested in PGx" Which was funny because so were we. So much so that we really thought that this was the bees knees and in fact was likely the only useful and scalable testing to come out in the next 5 years.

The DTC Genomics companies were merely a twisted dream at the time.

Well, Ryan. Our hunch paid off.

By Diversifying your DTC genetic testing company into something useful such as a GBM, you have moved shrewdly. And when the PBM leader gets trumped by CVS, you reap the rewards.

I look forward to the first quarter report from MedCo to see exactly how much they acquired you for.

I have been saying on this blog that the answer for these DTC genomics companies is to follow your lead. Now the question is, which big insurer will now but a DTC genomics company?

For MedCo, I am a little disappointed that you decided to choose the exact type of company as Caremark did. There are lots of other solutions out there. I hope you still plan on increasing your footprint in this space. Because it would be bad if CVS/Caremark continues to gobble these companies up and you end up buying the second in class.....

Not that DNADirect is second in class, but Heather Shappell et.al. ARE First Class.......

The Sherpa Says: There has got to be a way to make these companies less reliant on people. Even in the genetics testing space, there is a way to automate.

Hackers, HITECH and HIPAA in DTC Genomics, Oh My!

At our practice we run a pretty tight ship when it comes to security of patient records. Why do we do this? Well there are 2 big reasons.

1. It's the right thing to do.

2. The law will put you in the hurt locker if you don't

I want to talk about reason 2 a little bit.

Why?

With all of this protection of health information and DTC genomics companies going bankrupt, I begin to really wonder who a covered entity is.

Daniel Vorhaus over at Genomics Law Review has a pretty good break down of it, but I think there may be some nuances not covered. As well as a notable lack of coverage of HITECH policies in the ARRA.

Wha?

Yes the recovery act has stuff on Health care privacy in it. In HIPAA DTC Genomics may not be covered, but I think in HITECH they are.

Why have I been reading this stuff? Because it's my job.

According to HITECH

H.R.1 150 Title XIII (HITECH)

SEC. 13404

For the purposes of compliance with privacy and security regulations, a "covered entity" and its "business associate" are equally liable as if each were itself was a covered entity.

Which means if I send a DTC genomic test off with a doctor's order, AKA Illumina, a breach in that data due to the lab or interpretive business associate THEY are just as liable as the physician.

This means that DTC Genomic tests ordered by physicians fall into a completely more risky category than those ordered by Joe Blow.

This one risk may be why DTC is dying not to make these tests gatekeeper specific. Once these tests become gatekeeper specific, DTC will

A. No longer be DTC

B. No longer be free of HITECH and HIPAA

Which means a big 'ol nightmare for these companies as they want to emphasize the social networking part. You see, social networks have always balanced growth versus security and the same is true for any Internet Technology.

But let's say this is just one rogue hacker who has decided to hack a genome record ordered by a physician.......Via say a hacked email or website........

What is the penalty?

CITE 42USC1320-6

This is the scary part.

Sec. 1320d-6. Wrongful disclosure of individually identifiable          health information           (a) Offense      A person who knowingly and in violation of this part--         (1) uses or causes to be used a unique health identifier;         (2) obtains individually identifiable health information      relating to an individual; or         (3) discloses individually identifiable health information to      another person,  shall be punished as provided in subsection (b) of this section.  (b) Penalties      A person described in subsection (a) of this section shall--         (1) be fined not more than $50,000, imprisoned not more than 1      year, or both;          (2) if the offense is committed under false pretenses, be fined      not more than $100,000, imprisoned not more than 5 years, or both;      and         (3) if the offense is committed with intent to sell, transfer,      or use individually identifiable health information for commercial      advantage, personal gain, or malicious harm, be fined not more than      $250,000, imprisoned not more than 10 years, or both. 

So let's say someone hacked a record to get the one up on you, maybe you are a political candidate or maybe a business competitor, or maybe they want to sue you.......

If this rogue hacker performs an act of this on genomic information ordered by a doctor or that can be defined as PHI, these are the penalties. If it is not considered PHI, it is a far lesser offense.......

So the question is, do you want these protections if you are a customer/patient? I would say Hell Yeah.

But do you want them as a covered entity? Uhhhhh.....Ahem.......Well........

As a doctor we have to follow these. Why shouldn't anyone else who has been given the responsibility of handling human samples?

The Sherpa Says: As a consumer HITECH is great. But as a start up company it can prove to be a nightmare. But those who have to risk the most are the huge companies making millions of dollars....can you say class action lawsuit for millions? I know a few lawyers who would be interested in that! I wonder if the DTC Genomics investors thought of that

Hey DTC genomics, Stay Private, Stay Alive, Go Public and Die

Today's lesson in start up business in the field of DTC Genomics is this.....

Stay Private and Stay Alive. IPO and doom yourself to a painful and public death.

Huh? Ah, yes our first DTC Genomics venture is going to be restructured to someone else and the thought experiment will become a reality.

"When a DTC Genomics bust, what happens to the data?"

Well, someone else can buy it, at a rock bottom price. Hell, the selling company can even violate YOUR TERMS OF AGREEMENT!

Daniel, posts a great email from some sucker who bought DeCodeMe......or maybe just an "Early Adopter"

" there has also been filed with the court an offer by Saga Investments LLC to purchase deCODE's Icelandic subsidiary, Islensk Erfdagreining (IE). IE, which is not declaring bankruptcy, carries out all of deCODE's human genetics work and and provides deCODEme."

So, Saga Investments, a private firm will be taking over in Iceland and likely will be handed the keys to a bunch of genotypes.....

"For this reason, we do not expect this to have any impact on your deCODEme account. As ever, our commitment at deCODEme is to keep you in the forefront of progress in understanding the human genome and what it means for you and your health."

What did this achieve? Well, it took the DTC DeCodeme out of the publicly owned realm. Which is probably a good thing. Let me tell you why.

Publicly owned companies shares are extremely liquid and can be crushed pretty easily, where as rich ol' moneybags (SergeandMe) can keep throwing money into the kitty and outlast this economic downturn and premature launch of these companies, hoping to innovate his way out of this money pit.

This reason is probably why DeCodeme went private and will likely give up control of their data. They need some sucker to keep pouring money into a boondoggle that has no exit for at LEAST the next 15 years if at all.

The moral of the story for start ups is "Stay Private, Lose Investor's Money, Live, Innovate (gulp)"

The Sherpa Says: Now I want to know how many people will file a class action against DeCode for selling the data? Any ideas? Because that could really make the genetic data an unwanted commodity.

An argument 23andSerge can't win...23andme but not medicine

"As I had postulated before, in order to move towards a profitable direction the DTC companies would have to choose "Medically Relevant" or "Novelty Testing" From this recent email sent to me by a reader it is clear, 23andME is Choosing to become a clinical service, without accepting the clinical responsibility."

This from my post February 14 2009

That was the day the announced that they were doing BRCA testing. Since then we have created a little video that may now be running through the silicon valley.........

Why?

Because, at the Spittoon (brrrrrrr-ding) they have announced that they will be splitting their service into 2 different types of tests

The first "A Novelty Test" which will be solely for ancestry.
23andMe Ancestry Edition – $399

The second "A health test" which will be solely for medicine while still disclaiming it is not. 23andMe Health Edition – $429

"With the launch of the 23andMe Health Edition we are releasing 13 new carrier status reports. These reports will help you know more about what may be in store for the next generation. We are expanding our cystic fibrosis panel report to cover the full panel of mutations recommended by the American College of Medical Genetics, as well as several additional mutations. We will also be providing data for most of the mutations routinely screened for in the Ashkenazi Jewish population, including those associated with Tay-Sachs disease, Canavan disease and Bloom’s syndrome.

We are also continuing to expand our drug response offerings. The next report to come out, Pseudocholinesterase Deficiency, contains information for anyone who will be undergoing surgery."

Ok, a couple of things.

First-This health test IS a MEDICAL test. I have sent off CF carrier screening medically, I have also sent off for Malignant Hyperthermia testing as well.........

Each has their own limitations which I have had to counsel patients about........For an hour a piece.

Second and more importantly, this appears to be another price change for the 23andME service.

If it turns out this company gets eaten up by Google, I am certain google will then own your genome scan data.....So I have one thing to say to the consumer

"If you want google to own your genome data, then by all means buy a 23andMe test"

Buyer beware here, please. I only ask and beg the proper authorities to uphold the current laws and regulate appropriately to protect the public health and welfare.

Why do I say this? Because a BRCA test or a CF carrier screen which was inappropriate that has been performed already on the public, without medical regulation, or without proper medical guidance could cause harm.

Lastly, this is likely a salvage play to keep the ancestry service before the feds come sweeping in......shut the medical service down.

I am certain.

Well, at least they (Feds and 23andSerge) have heard us........we only grow stronger because we are correct and hold to the theory that "What's Important IS What Is Important"

The Sherpa Says: Democratization is important, but so is not dying.......Why mix hair color with BRCA testing? I am glad Serge sees that too.......But now that leaves the health test as "Not for Fun" Looks like quite a change in defense of Mountain View's medical practice without doctors.....

A few months late to the party....

This month's Internal Medicine News has Dr. Patricia Ganz on the cover.

I couldn't help but say, "Why does she look familiar???" But then I read and remembered

"Few physicians feel prepared to interpret findings from direct-to-consumer genetic tests and incorporate the results into clinical practice, according to speakers at a National Academy of Sciences workshop on DTC genetic testing."

Ahh, yes, she was at the National Academy meeting which served as the official hammer to DTC genomics....

These first intro words from the one of many articles in the Internal Medicine News about Genomics hits home

"Few physicians feel prepared to interpret findings from direct-to-consumer genetic tests" I have a serious question.

If these "tests" are for "fun" and not to be used for medicine, then why should it matter if doctors feel prepared to interpret these tests......

Should they not be interpreting these tests at all?

Since, after all, they are "not to be used for medicine".......

Well, unfortunately, the marketing firms and PR firms have pitched these little babies right next to other OTC medical treatments.......

Which means, the public will "Think" of these tests as medical.

And hell, why not?

Freaking 23andSergey is testing for the Ashkenazi Jewish BRCA founder mutations and placing the results right next to IBD, prostate cancer and heart disease, which BTW is right next to ear wax type.......

The biggest problem here is the confusion of "Medically important" with non medically important.......

When a consumer reviews important sounding stuff with non important sounding stuff, the non important looks more interesting, because it comes with stuff that "Can keep me from dying!!!!" This is the problem here.

And despite what Howard Levy of JHUMC says, I am not down with this problem continuing to exist.......we have allowed it to happen way too many times.....

My prediction is that clinicians will tune out this noise of DTC and use it as another excuse to tune out TRUE CLINICAL GENETICS......How do I know this? Because I know community physicians. They are WAYYYY different from the academic clinicians out there......

Dr Levy is incorrect in assuming that DTC will push the clinician to "Learn Genetics or Consult a geneticist"

Hell, most geneticists couldn't tell you what a heart attack and it's treatment entails these days. Unless of course they have had one. You should have seen the talk about Brugada up in New Haven, what a mess! I leave aside the IM genetics brethren here.....which are less in number than astronauts.......

And now that the team in Mountain View put out a press release about pure swill, it is all too clear to me what the hell is going on.

These guys are desperate. They need to live, or else the empowered genetics patient will die.

Or so they think.

This couldn't be further from the truth.

Genetics and Genomics is doing just fine without these boondoggles...... Do we need NYT spreads to survive and thrive? The answer: No.

Why?
1. Francis Collins is head of NIH
2. Obama proposed bills supporting Personalized Medicine
3. Major corporations are investing in useful genetic technology
4. Clinical research is progressing nicely in the PGx space
5. Clinicians like myself are organizing and practicing personalized medicine

So, I ask you "Why should we support something that distracts from the reality of genomic medicine?"

So we can have them figure out the interpretation algorithms? Well, they have shown what a complete hash of that they made...... For seven diseases, 50% or less of the predictions of two companies agreed across five individuals

So we can get the public supporting Genetics in Medicine? I think we know that the public supports us, with or without them.......In fact they support us more WITHOUT them!!! Because what the public fears can actually legally happen especially if a company goes belly up......

So they can carry out the next level of collaborative research? Have you seen the latest joke research? No thanks, I'll stick with Coriell for now...Maybe Scripps too.......

Suffice to say, from my view point on the mountain, these guys (DTC Genomics) are actually parasites, sucking the energy from the movement. They contribute nothing but hype, which now will turn to backlash......

In conclusion, this backlash will detract more from the movement than the hype added to it.

The Sherpa Says: Why continue to support something that in the long run will damage credibility with community physicians and the public? Why?

This Just In. 23andMe to go to GPs. I love my readers!!

That's correct. 23andSergey are going to offer GPs deep discounted SNP scans to General Practitioners in England.

As she is interviewed by The Times!!!

This comes just DAYS after I said that their market is in England, NOT the United States.....

"After listening closely to Timothy Aitman of the Imperial College of London, it seems to me that the market for DTC is not in the United States.

It is in Jolly 'Ol England. "

One of my readers sent this to me today and I laughed and laughed.

Why?

I am filling out an abstract that I will present to the GAPPNET meeting in Michigan.

It is about media response and attitudinal change to these companies correlated to my blog posts......

So what does Jolly 'Ol Anne and Bloody Sergey plan to do for Londoners????

"Ms Wojcicki said that it would be especially important for companies like hers to work with doctors to interpret genomic information, as the costs of DNA sequencing fall further. It is widely predicted that it will be possible to sequence anybody’s entire genome for less than £1,000 within a year or two, to reveal genetic variations that influence disease risk and response to drugs."

Ahhh, now you want to work with doctors Eh? Maybe listening to Mari Baker a little???? Physician distribution centers......

OMG, Dietrich, did you tell them our plan????

Well, count me in. As long as you come on bended knee. I will hear what you have to say. But then you have to hear what I am to say as well........

I have been getting CPMC data, this is no different, except the lack of IRB, the potential of bankruptcy sales of my data, the pootential of google linking this data to my gmail account etc.

The Sherpa Says: After trying to replace doctors with algorithms and getting bashed up against a brick wall, I would be more than happy to help you do this the right way.....Unless of course, you eat pain for breakfast!!!!!

Is it true?

Did Anne really dump Linda for Google?

Inquiring minds want to know.

I am looking forward to the next couple of weeks out of the DTC Genomics community.

IMHO, they were not that impressive at the IOM/National Academies meeting.

In fact, I came away with some significant questions which I am certaim the IOM will have as well.


First and foremost, "Tell me why you aren't practicing medicine"

No one here wants to stifle progress. But we don't think you need to break a dozen eggs before you get your omelette.

You would figure someone who had gotten a seat on the Board of the Foundation for the National Institutes of Health would have figured that one out.

Yes, that is correct.

She sits on the foundation board for the NIH!!!!

Once again I am amazed!

My Hypothesis is this.

Francis Collins has never come out abashedly against this type of testing. Why? He needs a Phenome Genome Metabolome study that can be run via the web. He is friends with Kari Stefansson, who knows how to do this. And NOW it appears Anne is on his Foundation's board. What a seriously crazy coincidence............

I do wonder what it takes to sit on that Board. My guess is that you have to have billions of dollars.

Because that is about all she has. B.S. from Yale (yeah, that and a 2.50 will get you a cup of joe), Company founded by her with her husbands money. But it is notable, that this young woman wields quite a bit of power now.

My guess, 23andme Francis and the NIH will sponsor the largest personalized medicine project to challenge the Coriell Personalized Medicine Collaborative.

Barack Obama will need a good will piece like this to erase the banter of health care and it will make everyone see how future oriented he is.

23andSergey win by getting access to the data, NIH wins by leveraging a huge tool which previously had stunted most large cohort studies, President Obama wins by changing the topic to something a little less controvesial (Unless you are an Eschatologist.....)

This will probably be announced in under a year.

The Sherpa Says: Yes 23andSergey, Drew was right, you will probably outlast all others because of your shear wealth. That doesn't make it right, or ethical, but in Washington it is what it is........