23andMe enters the Clinical Medicine Realm!!!

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.

Hello Patient X,

There's a wealth of new information in your 23andMe account. Our scientists have recently added a number of new articles to our Personal Genome Service, including two that may be of special interest.

If you take cholesterol-lowering statin drugs, be sure to check the new article for Statin Response, which deals with rare but serious side effects that may be influenced by genetics.

And for our members who have the data> from our v2 chip, we've added important information about BRCA1 and BRCA2 -> genes with variants having a quite rare but significant correlation to breast and ovarian cancer - in BRCA Cancer Mutations (Selected).

You can read these or any of our other recently published reports here.

And check out the expanding list of topics being added by your fellow community members here. Please join the conversation!

Best Wishes,

The 23andMe Team

So there you have it! BRCA1 testing on the V2 chip from 23andMe. I never, ever, ever thought that they would lay this stake so quickly. Yes, it is clear. 23andMe wants to report, directly to the consumer BRCA1 genetic test results! It is a variant and it is being reported.

Do they have medical malpractice coverage?

Are they covered by HIPAA?

Do they have the HHS Certificate of Confidentiality? They are doing research on genomics!

NO.

Rest assured, I have forwarded this information on to the California Department of Public Health as well as EGAPP. People do deserve to know results of these tests, there is no doubt about that. But people also deserve to have the legal protections afforded to all others who do genetic testing through a provider. These protections include significant regulations mandated of labs as well as ordering providers.......

I said last month that we would know which way these companies will go in 6 months. Looks like it took 23andMe only 1 month.......

The Sherpa Says: Pharmacogenomics and BRCA testing is in the realm of Clinical Medicine my friend.......so shall end your punch line of "Testing for Fun" I look forward to you taking medical responsibility for your actions. I hope you do too.......

Prasugrel saves Clopidogrel???

You gotta love it. The other day I was talking to a pharma rep, yes I do speak with them.....and they were all excited about Effient (generic name Prasugrel).

What are these medications and why was the Pharma Rep excited?

Well, you see Plavix(generic name Clopidogrel) which is one of the top 3 selling medications in the world is given to people who have had a stroke or heart attack. This medication is given to prevent another heart attack or stroke......

Also, this medication is given to people who have received stents in their coronary arteries. This is to prevent the stents from clogging up with platelets.......sort of a Drano in a pill so to speak.

It is also given to people who are having an acute heart attack.

These 2 medications are blood thinners. How do these thinners work? They block platelets, in a way similar (but not the same) as Aspirin.

Why was the Pharma Rep excited?

1) Prasugrel is just about ready to be FDA approved for use

2) Prasugrel has a study called Triton-TIMI 38 which shows it is better than Clopidogrel with outcomes

3) 2 studies just came out last month in the New England Journal of Medicine and one in the British Journal Lancet which show that up to 1 in 3 people taking Clopidogrel(Plavix) may have little to no effect from the medication and are at 300 times more risk for ANOTHER heart attack, stroke, or stent clogging by platelets.......And another one this month in the European Heart Journal!!

4) Another study came out showing that Plavix has no effect in patients who are on proton pump inhibitors. Drug Drug interactions are a big deal.....

Why is number 3 a BIG deal? Because it is a polymorphism in CYP 2C19 which reduces proper conversion of Plavix to its active form.

This IS PERSONALIZED MEDICINE!!!!!

We can test patients, avoid a medication or perhaps increase a dose according to genotype and ultimately change the risks of being a poor metabolizer......

Why am I not so HOOO RAAAHHHH for Prasugrel?

Guess what? Prasugrel ALSO requires conversion like Plavix..........it just uses another CYP enzyme.....

What's that you say? Maybe that enzyme isn't screwed up in 1 in 3 people.....

But it is at least present in 7-10% of certain populations and as high as 83% of African Americans!!! I think 83% is pretty high.....what one in three? 33%?

Well, that enzyme is CYP 3A4. Does that sound familiar to anyone? CYP 3A4 is required for some STATINs to be metabolized as well as some immunosuppressants.......Oh and as for drug, drug interactions from CYP3A4 inhibitors....

Here's the list

amiodarone, amprenavir, cannabinoids, cimetadine, clarithromycin, clotrimazole, cyclosporin, delavirdine, diltiazem, ethinylestradiol, erythromycin, fluconazole, fluoxetine, fluvoxamine, indinavir, intraconazole, ketoconazole, metronidazole, mibefradil, miconazole, nefazodone, nelfinavir, nicardipine, norfloxacin, propafol, quinine, ritonavir, saquinavir, sertraline, troleandomycin, verapamil, zafirlukast

The ones that I bolded are medications I have prescribed in the last month......

Looks like we may have a teency Weency reason to be less exuberant......

Here's what I think. The same thing that they found with Plavix, will also be the case with Prasugrel.......

Which means.......We should stop dosing medications without knowing the patient's freaking genotype.....what the hell is wrong with these knuckleheads!!!!!!

The Sherpa Says: If Lilly was wise, they would release these "trade secrets" and let us know how many of their patients in the private trials failed therapy and were CYP3A4 poor metabolizers.....Now OFF to the PMC Clinical Science Committe meeting!

Public Service Announcment

I am all for the support from this administration towards Personalized Medicine, but perhaps this may be a little too heavy handed....

From Bloomberg:

Betsy McCaugheyBloomberg Feb. 9

Feb. 9 (Bloomberg) — Republican Senators are questioning whether President Barack Obama’s stimulus bill contains the right mix of tax breaks and cash infusions to jump-start the economy.
Tragically, no one from either party is objecting to the health provisions slipped in without discussion. These provisions reflect the handiwork of Tom Daschle, until recently the nominee to head the Health and Human Services Department.
Senators should read these provisions and vote against them because they are dangerous to your health. (Page numbers refer to H.R. 1 EH, pdf version).

The bill’s health rules will affect “every individual in the United States” (445, 454, 479). Your medical treatments will be tracked electronically by a federal system. Having electronic medical records at your fingertips, easily transferred to a hospital, is beneficial. It will help avoid duplicate tests and errors.

But the bill goes further. One new bureaucracy, the National Coordinator of Health Information Technology, will monitor treatments to make sure your doctor is doing what the federal government deems appropriate and cost effective. The goal is to reduce costs and “guide” your doctor’s decisions (442, 446). These provisions in the stimulus bill are virtually identical to what Daschle prescribed in his 2008 book, “Critical: What We Can Do About the Health-Care Crisis.” According to Daschle, doctors have to give up autonomy and “learn to operate less like solo practitioners.”

Keeping doctors informed of the newest medical findings is important, but enforcing uniformity goes too far.

New Penalties

Hospitals and doctors that are not “meaningful users” of the new system will face penalties. “Meaningful user” isn’t defined in the bill. That will be left to the HHS secretary, who will be empowered to impose “more stringent measures of meaningful use over time” (511, 518, 540-541)

What penalties will deter your doctor from going beyond the electronically delivered protocols when your condition is atypical or you need an experimental treatment? The vagueness is intentional. In his book, Daschle proposed an appointed body with vast powers to make the “tough” decisions elected politicians won’t make.

The stimulus bill does that, and calls it the Federal Coordinating Council for Comparative Effectiveness Research (190-192). The goal, Daschle’s book explained, is to slow the development and use of new medications and technologies because they are driving up costs. He praises Europeans for being more willing to accept “hopeless diagnoses” and “forgo experimental treatments,” and he chastises Americans for expecting too much from the health-care system.

Elderly Hardest Hit

Daschle says health-care reform “will not be pain free.” Seniors should be more accepting of the conditions that come with age instead of treating them. That means the elderly will bear the brunt.

Medicare now pays for treatments deemed safe and effective. The stimulus bill would change that and apply a cost- effectiveness standard set by the Federal Council (464).
The Federal Council is modeled after a U.K. board discussed in Daschle’s book. This board approves or rejects treatments using a formula that divides the cost of the treatment by the number of years the patient is likely to benefit. Treatments for younger patients are more often approved than treatments for diseases that affect the elderly, such as osteoporosis.
In 2006, a U.K. health board decreed that elderly patients with macular degeneration had to wait until they went blind in one eye before they could get a costly new drug to save the other eye. It took almost three years of public protests before the board reversed its decision.

Hidden Provisions

If the Obama administration’s economic stimulus bill passes the Senate in its current form, seniors in the U.S. will face similar rationing. Defenders of the system say that individuals benefit in younger years and sacrifice later.

The stimulus bill will affect every part of health care, from medical and nursing education, to how patients are treated and how much hospitals get paid. The bill allocates more funding for this bureaucracy than for the Army, Navy, Marines, and Air Force combined (90-92, 174-177, 181).

Hiding health legislation in a stimulus bill is intentional. Daschle supported the Clinton administration’s health-care overhaul in 1994, and attributed its failure to debate and delay. A year ago, Daschle wrote that the next president should act quickly before critics mount an opposition. “If that means attaching a health-care plan to the federal budget, so be it,” he said. “The issue is too important to be stalled by Senate protocol.”

More Scrutiny Needed

On Friday, President Obama called it “inexcusable and irresponsible” for senators to delay passing the stimulus bill. In truth, this bill needs more scrutiny.

The health-care industry is the largest employer in the U.S. It produces almost 17 percent of the nation’s gross domestic product. Yet the bill treats health care the way European governments do: as a cost problem instead of a growth industry. Imagine limiting growth and innovation in the electronics or auto industry during this downturn. This stimulus is dangerous to your health and the economy.

(Betsy McCaughey is former lieutenant governor of New York and is an adjunct senior fellow at the Hudson Institute. The opinions expressed are her own.)

To contact the writer of this column: Betsy McCaughey at Betsymross@aol.com
Last Updated: February 9, 2009 00:01 EST

The Sherpa Says: This may be Change, but I doubt 70 year old patients will not object to being denied certain services because their so called "life expectancy" does not deem them worthy of preventative care.

Don't take my Kodachrome Away!!!!

Do you remember when you had to send your film to Rochester NY or Ohio to get developed......you would stop by the store check your last name.........Nope......sorry no pictures yet!! Even the thought of keeping that little tear off tag drove me nutty!

It was exciting, but it also was a huge pain in the a$$......What if the pictures were screwed up, you would have to send your negatives back so that they could get run again.........

That being said, Kodachrome is the gold standard of photo film, but that is so 1980s. In fact, there is only one processor of Kodachrome in the entire US left other than Kodak of course......

These guys had a great economy of scale with the processing centers and in fact it made a very nice business model for a while until Kodak discontinued Kodachrome......

Well in a similar type of move Complete Genomics lifts the veil at the AGBT....

and Bloomberg took notice

"Feb. 5 (Bloomberg) -- Complete Genomics, which offers DNA analysis services to drugmakers and other companies, will begin in June to sequence human genomes for $5,000, a far cry from the $2.3 billion the first sequencing cost in 2003."

"The service will be offered to drugmakers, biotechnology companies, and academic centers, said Clifford Reid, chairman and chief executive officer of the closely held Mountain View, California-based company, in a telephone interview. It won’t be available to individuals. "

From GenomeWeb

It is currently building a production genome center in Mountain View, Calif., that is scheduled to be completed this summer. By the time of its service launch this summer, the company plans to increase the output per sequence run to 200 gigabases, and to 600 gigabases by the end of the year. Its data center will host 5,000 processors and 5 petabytes of disk space initially, which will increase to 60,000 cores and 30 petabytes of storage next year.

This certainly is an interesting model.....I will be very curious as to how long this sort of technology stays this way.......say maybe before we invent The Digital Picture equivalent of Genome Scanning......

But, then what their business model entailed made me chuckle.........

“We think this is what the pharma companies have been waiting for,” he said today in a telephone interview. “We’ll be bringing a new customer to the market that’s potentially the biggest customer for DNA sequencing.”

His point was that Complete Genomics will be targeting Pharma and that this was some new model in the game of sequencing.......

I wonder if he had spoken to any of the old time microarray sales people. You see, Affy and the like actually peddled microarrays to Pharma first, BEFORE they sold that technology to the Academic centers........

That is why we have lag time between what pharma knows and what the rest of the world knows in terms of the microarray and GWAS......

So, peddling to people who have money instead of people who beg the government for money is nothing new, nor is pharma a "New Customer to the Market"

What IS a new customer was hinted at in the GenomeWeb article........

Going forward, Complete Genomics plans to provide human genome sequencing services to large genome centers, research centers, and direct-to-consumer companies.

The Sherpa Says: I wonder if LabCorp, Kimball Genetics, Myriad Genetics et.al. are going to be happy with a company essentially destroying their market by providing a Genome Direct to Consumers at a third of the price of one of their tests????? We'll find out in June!!! See you in the Summer.

Like I said........

If you have been following me at this blog for any amount of time, you know that I have been a careful watcher of these GWAS studies, and the testing companies who sprung up after them.


I have been skeptical of most of these studies unless they have had replication and fairly large Odds Ratios or Relative Risks........why? We are looking for clinical relevance and asking what can we do with this to better our patients lives........

Personalized medicine relies on several things but these 3 are absolutely needed: Prediction, Prevention and Privacy. It is rich in fields like Cancer Genetics, PGx, Preconception Genetics.

You see Personalized medicine is not just Prediction, which these DTC companies are touting, it is therapies and action......which, these tests unfortunately are lacking in.....


Unlike Pharmacogenomics....

To put it bluntly.....based on our current knowledge of what these SNPs are and what they do,

Consumer Genomic Testing is of:

Extremely Limited Clinical Value


We saw this with 9p21.3 one of the most significant findings in this arena.


Yesterday an article was released in PLOS which I just linked to which states that case pretty effectively.

I often say, that once a discovery is made of a gene or SNP or etc.....it will require at minimum 5 years to come to clinical utility.....So how could any company sell something prior to this under the auspices of medicine???


The conclusion from the PLOS paper:


Our analyses and examples show that strong association, although very valuable for establishing etiological hypotheses, does not guarantee effective discrimination between cases and controls. The scientific community should be cautious to avoid overstating the value of association findings in terms of personalized medicine before their time.


Association is NOT causation, nor is it actionable.......


Most of this small time SNP data comes through in guess what????


Family History!!!!! (five exclamation points for Daniel)


The Sherpa Says: Family History is FREE!!!! And Soon SNP testing will be too.

Recessionary Discretion......HotCoupons4U!!

Yes,


I am a big fan of the race to the bottom. At least in the case of SNP scanning. We have seen Navigenics drop their price, deCode drops off the earth and 23andMe???? Well, in a discretionary move they show use the true value of SNP scans.....




I give you HotCoupons4U.....The 23andMe special, pay close attention...


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Now correct me if I am wrong, but aren't they charging 399 USD for their test......so at most 23andMe thinks that their test is worth........199 USD AT MOST!!! Oh wait, this is off their family pack.....Oh, you know the one, where Anne Wojicki says you can drug your kid with benadryl for fun....and the same one where they say collecting your child's DNA is tough with the spit kits.......

Why would they lower prices even further? Because its your genome they want....not your money!!!!!



How it works:
1. Order a kit ($399 USD) from our online store.
2. Claim your kit by the claim code, spit into the tube, and send it to the lab. (The claim code is the 12-character code on the front cover of your green Spit Kit box. )
3. CLIA-certified lab analyzes your DNA in 4-6 weeks.
4. Log in and start exploring your genome.Learn more from https://www.23andme.com/howitworks/Available discount codes for 23andme: “spit party” or "SPIT"

I would like to add:

5) Release your genome into the wild and allow 23andME to profit off your folly without HIPAA protection or a certificate of confidentiality, like the one awarded the CPMC......

The Sherpa Says: Ahh Yes, it is coming in clearer now. The cost of a SNP scan is Zero US dollars.....until we prove it has value. Add on top of that the 1000 USD Genome and we will soon see that the real commodity is the interpretation and ongoing services revolving around your genome that will matter........Just like Thomas Friedman said about the Internet.......

HT-BC at EG

What will it add???? Huh Ed?

"MDVIP doctors “are very enthused and very interested in what this is going to add clinically to their management of the patient,” MDVIP CEO Edward Goldman told Pharmacogenomics Reporter this week."

That from a report by GenomeWeb's Turna Ray yesterday. (Subscription needed...bummer)

That is a superb question to be interested in Ed.....

What will Navigenics' Annual Insight test add clinically to the care of patients?????

The short answer: We have no clue.

That being said, have doctors done things on or to patients in which they had no clue what the outcome is likely to be?

Yes, it is called medical research. What it's not, is standard of care, even more, it's not concierge care. That's for certain. The team at MDVIP should be focused on taking family histories, med-med reconciliation and med-gene interactions. They should not be trying to integrate a test which has no clinical validity.

We have been studying family history and its role in medicine for decades now......so why did they jump at this shiny bobble????

I am not certain, other than they consider this a "patch" so that they can say they are practicing personalized medicine.

Let me speak clearly to Ed Goldman. "This test is not personalized medicine" In fact it is the antithesis of that. Why? Well, you are applying a test to people who may not derive use from it, even worse you are not personalizing whether you use the test or not.......

True personalized medicine is finding a family history of heart disease, anticipating the patient's risk, getting them on a good exercise regimen, and maybe even testing CYP 2C9, 2D6 and 2C19 in anticipation of a beta blocker, warfarin and perhaps plavix......

That is what personalized medicine is ladies and gentlemen. It is hard work, and not exactly scalable, but it is what is required to carry out truly preventative medicine. Not some shiny bobble.....

IMHO, MDVIP may have sullied their name by telling patients that they don't care about what the AMA says or even that this test has no proven clinical utility.....hell, even PSA has some utility!!!!

From the article:

"Of the MDVIP physicians surveyed, more than 90 percent said that genetic risk information changed how they handled their patients and spurred them to take a more aggressive medical approach."

My point exactly, why in the hell would these test results indicate that you should manage patients more aggressively? Maybe if you have enrolled them in an experiment, and obtained informed consent, you might be able to do that.....but 9p21.3 doesn't add anything to the clinical risk profile......perhaps these 90% of doctors need a course or two in clinical genetics and biostatistics.....

What a shame, these doctors were suckered in by the razzle dazzle and now are inappropriately up-managing patients based on scientifically valid (sometimes) yet clinically invalid data......

From the article

"On the one hand, Navigenics employs state-licensed physicians and genetic counselors, but maintains in its Terms of Service that this does not constitute a doctor-patient relationship. "

Shrouded in a veil of mystery and now trying to pose as clinically valid without taking responsibility.......

Well, it is no mystery that these tests are not clinically validated, or that they even produce beneficial behavioral outcomes.......

“Our stance has always been that patients shouldn't take this information and make medical decisions on their own, that they should consult a doctor,” Navigenics’ Vanier said. “This is complex information that is often challenging for physicians.”

Is that why you picked a bunch of concierge physicians who aren't trained at all in genetics to "Beta Test" the service?

“Navigenics assumes no responsibility for any consequence relating directly or indirectly to any action or inaction you take based on our site, the services, your report, or other content,” the company says on its website. “You must evaluate and bear all risks associated with their use, including any reliance on their accuracy, completeness, or usefulness.”

Of course not, why take any responsibility for what you bring to market???

Maybe MDVIP knows this and that's why the Navigenics partnership isn't on their front page

From their site:

"The truth is, MDVIP goes far beyond the fee for access companies that are rightfully seen as Concierge Healthcare and is actually setting the new gold standard for healthcare. "

If Navigenics SNP scans without any clinically valid data are the gold standard, then get me the hell out of medicine. Maybe MDVIP, should research the subject and perhaps participate in ethical research in the field???

You would have figured these companies would have funded studies prior to forcing a non clinical test on clinicians........

The Sherpa Says: This is just another case of razzle dazzle without taking moral responsibility for ones corporate actions. Haven't we had enough corporate chicanery lately????