Why Dr. Vanier's Navigenics appointment is good for PM

Congratulations to Dr. Vance Vanier. Yes Dr. Vanier, the ER doctor, turned VC is now the CEO of Navigenics replacing the health insurance executive Jack Lord.

Now you may be asking yourself. What does an ER doctor know about genetic testing? Well, usually not a lot. But after being in the biz for quite some time, I am certain Vance knows quite a bit. Despite that training at Hopkins..........LOL

I am very happy and this is a tremendous step in the right direction for the Board at Navigenics. It shows that they acknowledge the best way to enter the healthcare market and have an impact on people's lives is by working with physicians......Something that they were opposed to in the beginning.

In fact one of their PR wonks who is now gone, talks of a doctor who was advising Navi and said

"Teaching doctors about genetics isn't tough...........It's impossible" and with that attitude they approached DTC genomics.

I am here to tell you today, it "appears" they have turned that corner.

Time will tell, but my guess is that they will move towards the market rapidly and aggressively. They will use the lab to market to physicians. They already have a relationship with a handful of MDVIP doctors. One of which who has set up shop in sleepy 'ol Greenwich CT.

I will be happy to help her......

The next question that this company needs to ask themselves is

"Now that we have the right man at the helm, do we have the right product?"

My answer is pretty simple. No. This not the product.

So now, they need to ask. "Do we have the cash to support our venture, UNTIL we have the right product?"

That is only something MDV will know. But, my guess is yes.

Lastly, they then need to ask themselves "Is genetic testing the product?"

Once again, my answer is no. Which means that Navigenics will likely turn into an unscalable set of medical practices and interpretation software......

The interpretation software will soon be a free commodity, just like genetic testing. Why? Prometheus beat the others and Cariaso wins. Thus no patents........

Which means that the only way they make money is via a lenscrafters model.........Which is precisely what I told Dietrich Stephan, Dr. Rothberg, and a whole slew of VCs about 2 years ago now.......

So if any of you are eavesdropping, give me a call and we can run this...........

That being said, Dr Vanier's appointment is a good thing for PM because it shows that investors and boards now appreciate the fact that physicians must be involved in this process. Which is a win for consumers, because now they have someone who swore an oath to heal and protect the patient at the helm.

So heads up Vance, I will be watching.

Best of luck.

The Sherpa Says: Do or Do Not, there is No Try.

Enter the "Not" DTC Genomics Rep

An attractive male/female (depending on doctor) walks into the office.

"Hi I would like to talk with Dr X"

Receptionist "Who are you, sweetie?"

Rep "I want to talk with the doctor about the FUTURE OF MEDICINE"

Receptionist "Huh?"

Rep "Just let him know that I am offering DNA testing"

Receptionist "Hold On........."

Doctor comes out.

Rep "Hi doctor I am with...."

Cut off by Doctor "I know, I know, Myriad right? You have been coming around here for a couple of years now" "Ya know, I know nothing about DNA"

Rep "No doctor, I am not with Myriad. I am with naviGENICS"

Doctor "Who? Eugenics?"

Rep "No Navigenics, would you like to come to our open bar where we will talk about the FUTURE OF MEDICINE?"

Doctor "Hmmmmm......"

Rep "Don't worry doctor, we will have a report you can show your consumers (Law 1 broken) and we will let you customize it for your practice (Law 2 broken)"

Rep "Oh and we have Al Gore and Jay Z coming to the open bar"

Doctor "Ok I will see you there."

That's the future of naviGENICS strategy in NYC.......

But what I really want to know is:

1. Do the limitations of Pharma gifts also count for Labs. Can you say trips to the Bahamas?

2. Do the minuscule amount of MDVIP docs matter that much as a market? Prob not.

3. Will Navigenics now pursue the GENE Store idea that I pitched to Dietrich Stephan in 2007?

Listen, if the rep strategy worked for Myriad, why won't it work for naviGENICS? This is a good path for them. I envision a whole slew of lab reps in the future. Now if they could only have a test that is worth some clinical utility.........

According to Turna Ray at Pharmacogenomics Reporter:

In order to gain the state license, Navigenics had to meet several requirements, including hire a doctoral-level scientist with expertise in genetic molecular testing, pay a $1,100 fee, and respond to deficiencies cited by inspectors with a plan of correction.

Most important, however, was Navigenics' conceding to not market its services directly to consumers, as clinical labs are forbidden from doing under state regulations. "They have acknowledged that DTC will not work for them" in New York, Kusel said. "They can only operate through physicians' orders."

The Sherpa Says: Imagine TV ads in NYC that say "If you want to know your future, ask your Doctor.....naviGENICS doctor that is. IMHO, a test with little clinical value doesn't get tested for unless you spend millions on marketing and advertising the way MYRIAD has. Oh, and they have a very clinically relevant test........

CETP, Jewish Centenarians and Alzheimers

2005, I am at a lecture in a small conference room in the Annenberg building at Mount Sinai. You know the building, the huge black imposing tower at 101st and Madison Ave.

The speaker, Nir Barzilai. The topic: Living to 100. The take away, people that live to 100 have better defenses against the toxic exposure we ingest daily.

The biggest molecule I learned about CETP. Yup, CETP. So naturally when I learn about something I do a pretty big deep dive. Which is why I went out and bought huge amounts of Pfizer stock when I found out they were making a CETP inhibitor.....what a flop that was......goes to show, not all pleiomorphic effects or unexpected adverse effects are good.......

So imagine my surprise when @lindaavey @dgmacarthur mention that JAMA has a study on it....I listen.

But what do I find? Well, basically what the alzheimer association finds

This relatively small study suggests that variations in this particular gene - linked with long life and lower risk of heart disease - could also be associated with lower risk of dementia. More research is needed to fully understand this link. The government currently invests eight times less in dementia research than cancer research. This needs to change.'

I think this may be too much attention towards a subject in an attempt to hype a genetic finding. I remain skeptical. Since after all, I was burned by torcetrapib......

The Sherpa Says: Much ado right now, but certainly would be neat if we had some hard core modifier genes involved in APOE alzheimers....

Congratulations Navigenics. You ARE a clinical lab! Uh-Oh...

So like I have said multiple times. Navigenics is AT LEAST a clinical laboratory if not a healthcare provider.

It turns out that the NY State Dept of Health thinks they are a laboratory and have now awarded them a license to do their "Health Compass" in NY

So I say "Congratulations, you are a dead man"

Why do I say this? Simply because now Navigenics (any one notice that the only other prominent genetics word that uses genics is EuGENICS? Hmmmmm)

As I was saying, now Navigenics will be allowed to be a lab in NY and are given a license. What will that entail?

Uh, Vance, you did read Subpart 34-2 of 10 NYCRR, Laboratory Business Practices in it's entirety before you jumped into this right??

I did back in 2005 and that's what shook us even further away from the "BIZ"

The New York State Regulations on Clinical Laboratories are extremely rigorous. In fact, if they offered the hairbrained scheme of marking up tests for my profit, like M.F. did back in 2007, they would be in violation.

Now they have opened themselves up to a whole slew of civil laws.

Like

Section 34-2.4 Prohibited business practices by clinical laboratories.

(a) No clinical laboratory, its agent, employee or fiduciary shall make, offer, give,

or agree to make, offer or give, any payment or other consideration to a health services

purveyor for the referral of specimens for the performance of clinical laboratory services.

Like I said, Hair-brained scheme M.F.

These laws may impair their ability to run a for profit lab and KEEP their NYS license to test.

Here are a few more doozies

Section 34-2.4 Prohibited business practices by clinical laboratories.

(b) No clinical laboratory, its agent, employee or fiduciary, shall participate in the

division, transference, assignment, rebate, or splitting of fees with any health services

purveyor, or with another clinical laboratory, in relation to clinical laboratory services.

Looks like no deep discounts for the holidays in NYC....uh oh.

Section 34-2.6 Space.

(a) The rental of space by a clinical laboratory from a referring

health services purveyor, or an immediate family member of such purveyor, for more

than fair market value, or under circumstances where the rental amount is affected by

the volume or value of tests ordered by the health services purveyor shall be deemed

consideration given for referral of specimens for performance of clinical laboratory

services, and is prohibited.

No increased rent shenannigans either!

The rest of 34-2.6 is onerous as well. New York is Dedicated to preventing doctors and health care facilities, including labs from engaging in what other business may call standard operating procedure. Why? It may jeopardize the public health....

Section 34-2.8 Professional courtesy.

The provision of clinical laboratory services by

a clinical laboratory for health services purveyors, their families, or their employees,

agents, or fiduciaries at a charge which is below the lower of the applicable Medicare

fee schedule amount or the national limitation amount as defined by the Medicare

program for such services is consideration given for referral of specimens for

performance of clinical laboratory services, and is prohibited.

Looks like the Beth Israel Deaconess program with naviGENICS is a no no as well.........

Perhaps the biggest issue comes in the prepared reports.......

Section 34-2.11 Recall letters and reporting of test results.

(a) A clinical laboratory shall not communicate to a patient of a referring health

services purveyor that a clinical laboratory test, including, but not limited to a Pap

smear, is or will be due to be performed, or that a visit to the health services purveyor

for diagnosis or treatment is or will be due. A clinical laboratory shall not prepare such

communication for the health services purveyor to send, or otherwise facilitate the

preparation or sending of such communication by the health services purveyor. Such

communication or its facilitation shall be deemed consideration given for referral of

specimens for performance of clinical laboratory services, and is prohibited.

What does this mean? Any New York State resident who receives a doctor ordered naviGENICS health compass cannot receive direct communication of these results.

NOR can Navigenics customize a report for an ordering set of physicians in NYS. Which the physician just spits out at time of follow up.......

What this can mean is one thing and one thing only......

Navigenics is about to go into the clinical business. With a different name and a different company. They will work together in synchrony with the Navigenics lab team and provide that they deem to be "personalized medicine" But what will be nothing more than Medicine with a personal genomics boondoggle...

Real personalized medicine includes patient pedigrees. Who knows, maybe they will do this?

The Sherpa Says: Not a bright move coming into NYC without investigating what it entailed. I hope someone did their homework and has found a "loophole" Because otherwise, no doctor in their right mind is going to order your tests.....for now......

Gotta Love It. Even the daycare.......

So the other day I go to pick up my oldest and the businesswoman who runs the show said to me "I have a question" I quickly see her Time Magazine with the cover which asks "Can we change our genes"

I immediately launch into a diatribe about epigenetics. The current state of epigenetics is even murkier than micro RNAs. I basically go on a rant and at the end she says "So can those cigarettes I smoked as a kid screw up my grandson?"

OMFG!!! This is why I hate TIME magazine. AND the lay press, AND the secondary education system in this country...AND.........

Ok, here is the real take on Epigenetics. It is a control system, plain and simple, just like these RNAs and whatever else may control t he rate at which DNA does its dance.

Monogenetic disease importance is pretty clear....

Gene Broken (of important protein/etc) + No Repair = Disease Phenotype

But when you can compensate with other genes, or even multiple copies of the same gene or EVEN by upregulating similar genes to carry the load, you have a different story. Which is the story that you will soon hear being told.

The reason our organism exists here is because:

1. We repair our DNA damage pretty well, when we don't we die, usually of cancer

2. We have redundancy mechanisms which, we will find out have epigenetic control

3. We pass these adaptations on to our kin in multiple ways through behavior as well as, ribonucleic acids, as well as methylation and acetylation and......G-d only knows

Do we have any idea how the "F" all of this works. No, which is why I beg all of you hungry reporters working as freelance or as staff reporters for the will known as Time, please stop hyping "the NEXT BIG THING"

God Damn now I am gonna have to deflate the epigenetics balloon too????

Pretty soon everyone will be saying, WE HAVE A RIGHT TO A PROPER EPIGENTICALLY MODIFIED GENOME! I can see it now.......

The Sherpa Says: How about extra methylation causing cancer? How about low methylation ALSO causing cancer? Don't believe me? Pub Med it.......

Personal Genomics Flop.....big Belly Flop!

Daniel and Dan get quoted in an article in the Times yesterday and I am happy for them. It just goes to show how bloggers in this space ultimately shape the space.

That being said, everyone is left wondering "Where in the hell do we go from here in Personal Genomics?"

Well, I know where we are going in Personalized Medicine. PGx.

But as for personal genomics, the path is less clear. First we have to be honest about a few things.

1. Your genome is essentially worthless right now
2. We don't understand what the hell most of the SNPs and CNVs mean in the genome
3. In an economic downturn, very few people will buy this, no matter how cool it looks.
4. Don't believe me? How does Time's Invention of the Year ONLY GET 30,000 (if you believe) customers. How many iPhones sold after the listing in 2008?
5. Things we are certain of in the genome add very little to life planning or healthcare.

Now, if we can overcome those things we have to ask ourselves. Is this a software play or a genome database play. If this is a software investment......

1. Is the software being created that valuable?
2. Can you patent or create a moat around the analytical tools that were created by these companies, or are the tools just rehashing of other tools that exist
3. Does Prometheus ruin the ability to patent these tools?
4. Are these tools accurate and valuable? Ask J Craig fellas....
5. Will the lessons learned justify the investment? At least a few hundred million USD people!

Well, let's say it is NOT a software play, it is a genome database play.

1. How many people does it take to have a valuable database.
2. Is the database a legal liability worth the risk?
3. Will anyone want to buy the database?
4. Can there be a free database which will be more valuable than the "for sale" database
5. Can the database be curated and annotated easily?

So, after the million dollar open bars and zeppelins and celebs we are left with some real hard questions. Which is why I am very unclear as to the future of this "industry"

Is this really an industry all of its own? Or is this just a rehash of facebook?

Do you remember that fat kid? You know the one who said "Hey look at me! I am gonna make a HUGE SPLASH!"

Well, guess what porky, huge splash made..........

Now how in the hell does that SORE RED BELLY FEEL?

The Sherpa Says: A lot of pain and suffering may ultimately in the end prove worthless and the ripples may die.......Only to have some other fatso cause waves later on........

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

5 Technologies going bye bye in this decade?

I read with interest a twitter post by @Blaine_5 @Genomicslawyer and a few other of my friends.....

It turns out there is this theory that what we use often isn't the best or the most elegant, but it works. Sometimes this turns out to be a rube goldberg machine that we just can't shake. Much like healthcare and insurance billing........

Sometimes we see the errors in our way quickly and adjust course. Sometimes we don't. It all depends on who is putting money into things and what the priorities of the society are at the time.

Think about all the archaic things we still use and do. I think about these every day as I see patients and interact with a system that has been doing some of the same things since the dark ages........

Foxglove anyone????

Seriously. But that will change with blogs and social networks that allow us to cut most things to pieces very quickly. Engineers are very good at this rapid changes, priests not so much, somewhere in between lie most people.

Stephen Friend has decided to put one of these critiques out there. His 5 things that will be gone in 10 years.....

1. GWAS

"Single nucleotide polymorphisms (SNP) analysis isn’t going to last long as a major driver of biologic insight. Within the next one to two years, people will wake up to “ITEGS”—”It’s the entire genome, stupid.” Technologies are poised to allow analysis of variations in thousands to even hundreds of thousands of people. Do not be surprised when all the people with a disease such as Huntington’s are analyzed for DNA alterations across their entire genome. Groups such as Cure Huntington’s Disease Initiative are already preparing for this world." Courtesy XConomy

I freaking love it! ITEGS or better yet ITGS! I wholeheartedly agree that this is the platform which will work when combined with technologies to assess methylation status RNA function and expression and combined with.........

Phenotypic data such as a physical exam, vital signs and PEDIGREE!!!! Which is why in the end, even the most complex interpretation machine will have a problem without someone to give these other data points. Will it be the clinician or machine which hears the heart murmur? We already know machines outperform in this realm.

But I agree, the boondoggle known as DTC Genomics and research based on SNP scans is a novelty, but there will be better options for discovery.

Why would you pump money down the DTC rabbit hole, unless you are in love with their "logic gates" for processing the genotypic data. Which IMHO should actually all be open source to assure the best and most timeliness. Why let this genome interpretation software be a one trick pony, we know open source works well, why mess with it?

2. Proteomics as the end solution.

I think this line puts it best

"The next wave of insights will be in the hands of those that can build network models of what went wrong in the disease states."

Uh, paging Dr Lee Hood? Can you hear me Lee?

3. Biomarker signatures as commercially viable robust markers akin to cholesterol or estrogen receptor positivity for breast cancer.

Ah yes, there's a biomarker for that! I have seen this with PSA, CA125, 9p21.3, I could go on and on. The data and patient population required to really, really get something out of this is in the order of hundreds of thousands of participants. Not even a tiny Island nation going into default could save this model!

4. Indications for drugs determined by Pharma trials......

Yes, I agree. The real next step is to determine WHO should get the drug, not WHAT should get the drug......Pharmacogenomics is going to be a real game changer over the next decade. MARK MY WORDS.

But his 5th I disagree with.

He states the large hunter gatherer approach such as Framingham will not exist. I think he is dead wrong here. There is no doubt in my mind, nation states will yearn to harness genetic technology and cures for diseases in a whole new light and fashion.

Genomics will be one of the new arms races once terrorism and hunger and pestilence and civil unrest and malaria and TB and poverty and crime are eliminated. It will start when we can use the genome to profile for medications and only go further...........This hunter gatherer approach is the best way to do such trials and only governments have the capital to perform them.

The Sherpa Says: The decade is upon us. With birth pangs we will see new technologies destroy the old in Genomics and Personalized Medicine.