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.

Tell Me, How do you feel now? Sherpa's RX

One thing is for sure. In a recent poll of members of the AMA, granted a pretty skewed poll as tons of AMA members cut up their cards this year........random sample of 6000 physicians from the American Medical Association (AMA) Physician Masterfile, which includes current data on all U.S. physicians.

Excluded were, residents and doctors in US territories. From this data in the New England Journal of Medicine, Keyhani et al found some interesting things. The biggest of these is that a majority of physicians are for a governmental option WITH private options.

Not a surprise, this is what ALREADY EXISTS.

From the study......

"Survey respondents were asked to indicate which of three options for expanding health insurance coverage they would most strongly support:
1. public and private options, providing people younger than 65 years of age the choice of enrolling in a new public health insurance plan (like Medicare) or in private plans

2. private options only, providing people with tax credits or subsidies, if they have low income, to buy private insurance coverage, without creating a new public plan.

3. a public option only, eliminating private insurance and covering everyone through a single public plan like Medicare.

We also assessed the level of physician support for a proposal that would enable adults between the ages of 55 and 64 years to buy into the current Medicare program — a strategy that the Senate Finance Committee has proposed."

But what pisses me off about the article is how it is written....take a listen....

"Physicians in every census region showed majority support for a public option, with percentages in favor ranging from 58.9% in the South to 69.7% in the Northeast. Practice owners were less likely than nonowners to support a public option (59.7% vs. 67.1%, P<0.001),>majority still supported it."

No caveats for the fact that DOCTORS ONLY SUPPORT A PUBLIC OPTION IFF there exists a private industry as well.

What these jokers don't say is precisely that point. Which is why, the press will publish "A majority of doctors support a Public Plan" which may sound like they support single payer.....

They don't. In fact, 3 times as many support a private only plan than a public only plan!!!!

They do acknowledge limitations

"Some limitations of our study deserve comment. First, our response rate was 43.2%, which is modest, though typical of the most recent national physician surveys and surveys in general.

There were no significant differences between survey respondents and nonrespondents in important characteristics, such as specialty, practice location, and practice type.

Second, physicians’ opinions about strategies for expanding health insurance coverage may have evolved during the period of data collection, given the intensive press coverage of the issues."

But in the end, they never, ever mention the fact that a near THIRD of physicians support a private ONLY system and that this number is 3 times the physicians who support a government ONLY plan like Canada or the UK. Thus placing those progressives who demand such, clearly outside of the mainstream of most physicians.....

The only true way to save costs is to start using science and personalized medicine. You will not save costs by covering more people. In fact, I argue that there is no science which truly extols the benefit of enhanced coverage. What should be enhanced is catastrophic coverage.

What bankrupts people? Catastrophe, not a URI.

If you want to nationalize/universalize coverage, stick with catastrophic care. That would make sure everyone was covered when HUGE bills hit.

I am certain this plan would be extremely useful. Enroll everyone in this system and pay out when catastrophe strikes. It works for life insurance. Leave the small time players alone and focus on hospitalization costs, etc.

Continue funding HPSA and increase the loan repayment to 300k over 3 years rather than 85 over 3 years. Watch the doctors come then.......

Give tax subsidies for people who pay for URIs etc or traditional health insurance, which now should cost less as the government/taxpayer absorbs the catastrophic costs.........

That should keep everyone covered and help out with the uninsured. We all know that the major cost to hopsitals is the "self pay" patient with disseminated echinococcus or HIV or esophageal cancer or heart attack.

As for the government and medicare, if you just had a huge boost in revenue by new people coming on board for catastrophic care (To be read as, not pay out for most, and pay out later for some) you could help that insolvency thingy........

The Sherpa Says: Personalized Medicine is a key, rational thinking is the LOCK! I know, my wife just had an ER visit, the hospital charged 6168.00 USD, the insurance paid 800 USD. If she didn't have an insurer protecting her from gouging, she would have had to pay 6168.00 USD. I see it both ways....

Something off my chest........Health care will never be fixed by Lawyers

I rant and rave about genomics and about hyping of genetic tests but today I have a bigger issue. That issue is plain and simple.


Healthcare is FCUk3D up.



I run a successful personalized medicine practice, just recently we started taking health insurance. The demands from handling billing and copays from insurers AND medicaid has not been that cumbersome. Why? We only see 10 patients per doctor per day.

When you start seeing more than that it creates all sorts of problems.

Like manpower requirements that start to exceed 100-200k per doctor.......

If you have less doctors for more patients, the equation is simple.

Rationing of physician care.

That is what will happen when you cut 400 million dollars of Medicare money. Oh wait, I mean 500 BILLION dollars......

Do I think that the Lawyer serving in congress will ever solve those problems?
No.
Do I think that the very few doctors in congress will fix this problem?
No.

But trust me, there are way more lawyers than doctors in Congress, so I am extremely doubtful.
No Offense GenomicsLawyer.......

Why?

They are not the people who are experiencing the problems.

Maybe the doctors were, but they aren't now.

The solution will come from doctors/nurses/patients who are involved in the system already...... currently.......

To think otherwise is foolish.
And to drown out the protesters, intimidate them and hide from town halls is also foolish.

Both parties in this argument are dead wrong.

They are having the wrong argument.

The average primary care doctor gets paid about the same as they did 10 years ago. Does that make sense?
Costs go up. Rent Goes up. Medical Supplies cost more. And insurance pays less and less, Including Medicare, who pays routinely 1/2 to 1/3 of what private insurers pay.

As a doctor, Don't like what you get paid? Switch Insurers.
But you won't be able to do that under a universal plan.

As a patient? Don't like what your insurance paid for? Switch insurers. Pretty simple, unless of course you have preexisting conditions.......

The system is a mess, not because of what we pay doctors or hospitals or whoever.

The system is a mess because there are a whole lot of sick people out there......More sick people than healthcare practitioners equals shortage of attention.

Shortage of attention leads to worse care and more labs and more procedures. Shortage of attention leads to increased malpractice costs, risks and fears...... Want to fix the system?

Encourage more doctors to go into primary care, make their liability risks less, create technology so that they can "fire" their overhead this will create increased revenues for doctors without raising pay.

But please, don't ration care because we are too busy and too risk averse to do it on our own.

Enable the professionals to do it by giving them time to think about their patients...... This system will never get fixed by lawyers.......never.

Medicine is a thinking man/woman's game, not a sweatshop.....why ask us to run sweatshops? The American people deserve better than that......

The Sherpa Says: What good is personalized medicine if the doctor can't take the time to personalize it for the patients??? You tell me.

I'm All for Change, But this?

I hope you can get a deep understanding of how absolutely and completely worse off we will be with this complicated system. You can say, "well can't the US government track submarines underwater while also tracking missles overhead and STILL collect taxes?" They can, but this is even more complex. Listen, it would be nice to have a cheaper Not For Profit system out there to pay for care.

Remember, having access to health insurance, is NOT having access to healthcare.......

It's having access to health insurance. I don't know if anyone reads Investors Business Daily, I do and on Wednesday I read something which almost made me $h!t my pants. The House bill went public all 1018 pages of it.....

On Page 16 there is something very, very scary on it.........

From IBD (Not to be confused with Crohn's Disease)


By INVESTOR'S BUSINESS DAILY | Posted Wednesday, July 15, 2009 4:20 PM PT

Congress: It didn't take long to run into an "uh-oh" moment when reading the House's "Health care for all Americans" bill. Right there on Page 16 is a provision making individual private medical insurance illegal.

IBD Exclusive Series: Government-Run Healthcare: A Prescription For Failure



When we first saw the paragraph Tuesday, just after the 1,018-page document was released, we thought we surely must be misreading it. So we sought help from the House Ways and Means Committee.

It turns out we were right: The provision would indeed outlaw individual private coverage. Under the Orwellian header of "Protecting The Choice To Keep Current Coverage," the "Limitation On New Enrollment" section of the bill clearly states:

"Except as provided in this paragraph, the individual health insurance issuer offering such coverage does not enroll any individual in such coverage if the first effective date of coverage is on or after the first day" of the year the legislation becomes law.

So we can all keep our coverage, just as promised — with, of course, exceptions: Those who currently have private individual coverage won't be able to change it. Nor will those who leave a company to work for themselves be free to buy individual plans from private carriers.

From the beginning, opponents of the public option plan have warned that if the government gets into the business of offering subsidized health insurance coverage, the private insurance market will wither. Drawn by a public option that will be 30% to 40% cheaper than their current premiums because taxpayers will be funding it, employers will gladly scrap their private plans and go with Washington's coverage.

The nonpartisan Lewin Group estimated in April that 120 million or more Americans could lose their group coverage at work and end up in such a program. That would leave private carriers with 50 million or fewer customers. This could cause the market to, as Lewin Vice President John Sheils put it, "fizzle out altogether."

What wasn't known until now is that the bill itself will kill the market for private individual coverage by not letting any new policies be written after the public option becomes law.
The legislation is also likely to finish off health savings accounts, a goal that Democrats have had for years. They want to crush that alternative because nothing gives individuals more control over their medical care, and the government less, than HSAs.

With HSAs out of the way, a key obstacle to the left's expansion of the welfare state will be removed.

The public option won't be an option for many, but rather a mandate for buying government care. A free people should be outraged at this advance of soft tyranny.

Washington does not have the constitutional or moral authority to outlaw private markets in which parties voluntarily participate. It shouldn't be killing business opportunities, or limiting choices, or legislating major changes in Americans' lives.

It took just 16 pages of reading to find this naked attempt by the political powers to increase their reach. It's scary to think how many more breaches of liberty we'll come across in the final 1,002.

AS Jon Belushi said in Animal House

"Holy $h!t"

This is crazy. If this becomes law, it in essence will prevent you as an individual from changing plans, unless of course you go on the government plan. No more individual policies.......EVER

This may not be a big deal for someone in bad health, but for a health 40 year old who wants access to specialists without issues or waiting periods, this could soon become illegal......

The Sherpa Says: If you think that these changes will enable Personalized Medicine, think again.........Besides, the real costs in this system are drugs and hopsitals. Why bother with the providers?

Why SB482 is bust. I am amazed by smart people.

If any of you were on the receiving end of my email blast, bear with me. I have a few points to make this morning. A coupla weeks ago, June 24th to be precise.......23andSergey reposted a tweet which really got my attention......


The original tweet was "@23andMe BTW, you saved me $25 for a CF test - used my and spouse's 23 results instead. Thx!"

The user is a really super smart CEO of a company.

After Daniel MacArthur and I protested, 23andSergey pulled down the post........Normally not a big deal, but then came a tweet for me which really had me even further convinced of some issues with DTC

"@hh Really, how so? Our fertility doc says "either of you been tested as a carrier of CF?", yes, both know status via our @23andme."

Do they really know?

No. Truth be told, the delta508 mutation is not exactly the gold standard for carrier screening.....and what the hell? Carrier screening? Isn't that medicine?

Which brings me right down to it........State Bill 482 in essence says that these DTC genomics companies aren't really doing testing. They are only applying a mathematical algorithm to determine risk...........

Could you please tell me what algorithm is used to say you are or you are not a delta508 carrier in the CFTR gene?

Here's another question.

What algorithm are you using to tell people whether or not they have Ashkenazi Jewish Founder Mutations in BRCA genes?

The answer is, they are speaking out of both sides of their mouth. These companies are intellectually dishonest and are looking to pull a fast one here.......and their lack of care for customer or patient safety and health is amazing.

When they pulled that CF retweet, did they post a tweet which says "23andSergey services are not to be used for medicine, and carrier screening is part of medicine"
The short answer.

No.

The long answer, why turn away a customer base who is inferring that it can be used?

I was quoted at the bottom of a San Jose Mercury News article the other day I am an Internist BTW.......

But my point is this, in the world of scandal in politics and lack of transparency, shouldn't we be asking why a company who wants to do this research revolution but won't have an IRB, a company who wants to "Be regulated" buyt by their own rules, a company who has deep ties to a company whose bailiwick is data mining and archiving, a company who performs medical type tests and infers that they can be used as such (despite the fine print)......shouldn't they be held to some sort of standard here?

Are we in the field of genetics so desperate for attention that we let these companies slide in their own laws and their own rules? Do all ships really rise with the tide? We need to ask ourselves here, is this sort of quick shiftiness and legal manipulation ok for the field of genetics?

What sort of trust does it inspire to know that the laws regulating companies were written by the companies. Less than 10% of all congressmen and senators were ever doctors (for my curious detractors).

Why does the medical field come under fire? Lack of trust. Do we really want another chink in our armour?

Does the entire field of genetics and its amazing discoveries want in its midst a company who is willing to manipulate data, lawmakers and ethics to survive?

What does that say about the field? How desperate are we?

What does accepting them say about us?????

The power of Twitter and why blogging matters.

I am certain there must be a million stories like this out there. Devoted Twitterer attends conference that others cannot, recaps the talks via twitter as physician/new papa/blogger/entrepreneur virtually attends the conference via twitter and can give color commentary......

Or this one: Conference presenters hamstring regular news, while blogger gets strategic advantage by not registering as a journalist. Thus scooping the press...... Well, I have now seen and appreciated both in real time.

This weekend while I was recovering and taking care of our newborn I was able to attend a conference the AAAS hosted a conference entitled "Personalized Medicine, Planning for the Future" it was a scientific freedom, responsibility and the law program......... The microblogger was Dan Vorhaus Esquire and the venue was Twitter.....I know I would have loved to watch the streaming webcast, but alas I had dirty diaper and feeding duty, so I could not get to my laptop.......which led me to the next best thing......my iPhone.

What an amazing invention that IS actually worthy of Time's invention of the Year.......

The next story is a slap down of Daniel MacArthur (Pound for pound the best genomic blogger out there) Welcome back from 2 weeks away Daniel, take your beating! Credit Science Insider

June 2, 2009

Cold Spring Harbor Wants Scientist Bloggers to Follow Media Rules

At a recent meeting at the Cold Spring Harbor Laboratory (CSHL) in New York state, Daniel MacArthur from the Wellcome Trust Sanger Institute in Cambridge, United Kingdom, brought into focus how fuzzy the line between journalist and scientist is becoming. In addition to reporting on genetic variation in a gene that is active in fast muscle fibers at The Biology of Genomes meeting, MacArthur wrote several on the spot blog posts covering advances discussed by the participants. Francis Collins also mentioned results on his new Web site.

A specialized Web-based news service, Genomeweb, complained. Apparently there is some rule regarding when journalists can release information. Usually they are allowed to do so AFTER the meeting.......but Daniel did it before the journalists could, thus scooping them.......

As a blogger who has been sued in the past due to blogging, let me tell you.....this could be scary business..... More importantly, it raises the question about Twitter.....Is twitter a microblog? Or is it a super fast SMS txt?

You see where I am headed with this.

In order for personalized medicine to progress, we all need to be in constant contact to let the flow of new ideas move........Could we actually be legally held to restrict its flow? Personally I think blogging and twittering is not exactly journalism, but it could be......even FoxNews has a twitter feed.

So who is and who isn't a journalist.....this could get almost as tricky as internet startup companies pretending to play doctor by running tests on your DNA and reporting results as if they were actually predictive of something.........

The Sherpa Says: Have to run, patients all morning. But as you drink your coffee and look at your DTC test results and analyze your CYP1A2....think about how much more that ability to microblog at a conference will affect your life than some 1 million SNPs will.........

Thanks To Genome Web: The Challenge to Personalized Medicine

I have long thought about this and remain convinced that Personalized Medicine is the most powerful tool to improve patient outcomes. The paradigm is clear......

In an interview I gave to Berci Mesko at Scienceroll 

a while ago.....I made clear that there is a difference between personalized medicine and personalized genetics.

I know want to make another important distinction......until personal genomes can improve lives by altering current medical care or behaviors known to increase risk of disease, they remain NOT PERSONALIZED MEDICINE!!!

So they should not be lumped into the same category as Personalized Medicine.

They are what they are. Personal Genomics recreational testing.......Unless of course they are giving you data about disease, but that of course is a different animal....

So when I read GenomeWeb today pointing out a post of mine. Thanks BTW....

I am in awe of what is going on.

Basically you have scientists arguing over the "statistical" without clinical.....

This amounts to quants in a 100 story building in Manhattan arguing about Re-Insurance of assets located in Topeka Kansas.....

This is precisely what got us into the financial mess we are in....

Who knows how things work? The people who do those things on a daily basis? Who "thinks" they know how things work? The people who "created" those statistical things....

Who is right? Well in this case the pragmatic answer is this......

Find a test which replaces the current testing we do to identify risk.....prove it works and then deploy it.....

In the current GenoHype Schema, what we have is backwards..........We deploy tests which haven't been proven to work OR replace current testing for risk stratification.....And hope to hell someone proves them to be correct. But when they are disproven (is that a word?), we write letters to the editor attempting to tear apart the research...In Futility...........

I hope you get my point......DTC Genomics has created a Personalized Medicine Bubble which is set to pop because of overhyped promises......

Francis Collins' statement that "the worst thing we could do for personalized medicine is oversell its promise" is now coming true and the Quants from Biotech may fall just as hard as those from Finance.......

The Sherpa Says: Personalized Consumer Genomics is for recreation. Personalized Medicine IS for Medicine......Let's not mix the 2 please.......

Swine Flu Concerns

From Wikipedia

Several complete genome sequences for U.S. flu cases were rapidly made available through the Global Initiative on Sharing Avian Influenza Data (GISAID).[104][105] Preliminary genetic characterization found that the hemagglutinin (HA) gene was similar to that of swine flu viruses present in U.S. pigs since 1999, but the neuraminidase (NA) and matrix protein (M) genes resembled versions present in European swine flu isolates. The six genes from American swine flu are themselves mixtures of swine flu, bird flu, and human flu viruses.[106][107] While viruses with this genetic makeup had not previously been found to be circulating in humans or pigs, there is no formal national surveillance system to determine what viruses are circulating in pigs in the U.S.[108] The seasonal influenza strain H1N1 vaccine is thought to be unlikely to provide protection.[109]

However, this type of H1N1 Influenza can be treated with Oseltamavir and Relenza. By the this time next week Helix Health of Connecticut will have an adequate stockpile for its patients and employees. We are prepared. Are you?

The Sherpa Says: This genetic "Mongrel" is spreading rapidly and my guess is that the United States Government may be ready. But the towns and states may not be as ready. You can be ready by washing your hands, staying home when you are sick, covering your mouth when you cough and keeping people home who can't do those things. If you have fevers, go to your doctor or to the Emergency Room. But remember, those at highest risk have had contact with those from or returning from Mexico.

The argument maybe defused. Quacksalvers?

Ok,

So what happened in the DTC market was a fractionating of services with different "legal" arguments for what they were doing in attempts to avoid regulations which comes with all sorts of health care practice.

At that time I argued that these firms WERE DOING healthcare and should be regulated as such.

Astute legal times from Navigenics and 23andME said.....we aren't doing medicine. We are only using algorithms to process results of biospecimens .....Despite receiving cease and desists

They even said, we don't NEED CLIA because we aren't doing clinical testing.......

Yes, in hindsight these arguments did seem silly......they seemed silly to me at the time as well. But then these businesses fell in line, sort of..... Paired with CLIA labs and then we all moved on. But what they didn't do is submit their algorithms to regulation as well. We now see this problem getting larger. Especially as Muin Khoury and the CDC argue for complete transparency of what these "algorithms" are.

Why? Because the CDC, like me feels that they are providing some sort of healthcare service. One that will likely exist in the future as well. So much so that it needs to be regulated now, to prevent all sorts of shenanigans like those that existed even in 20th century healthcare.....

Cocaine for headaches and depression?

Traveling medical shows where women all sat in a train car and......

Mercury to sure mania? We saw that all of these things were used without regulation or guidance, exposing people to significant harm.....

Like the financial industry, the argument that regulations will prevent us from being the world leader in genomic technology is pure B.S. Just like it was with Finance

In fact, I do remember all of these money making brokers saying the exact same things I hear now from Genomicists mouths......

Scary, if you ask me.

So what about these "algorithms"?

Well, a few people confirmed that in California we have some new drafted legislation which could affect all players in this DTC and lab space.....

• This bill would require an entity that provides post-CLIA bioinformatics services, as defined, to contract with a licensed clinical laboratory to process biological specimen collection kits, except as specified.


• The bill would require an entity that provides post-CLIA bioinformatics services to employ a specified expert for approval of the algorithms used in the interpretation of the biological data of a customer.


• The bill would further impose on an entity that provides post-CLIA bioinformatics services specified privacy, recordkeeping, disclosure, and audit requirements, and would impose specified duties on the State Department of Public Health in that regard.


• The bill would also subject those entities to specified provisions of existing law prohibiting unearned rebates, refunds, and discounts, a violation of which constitutes a crime.


• Because the bill would expand the scope of a crime, the bill would impose a state-mandated local program. The California Constitution requires the state to reimburse local agencies and school districts for certain costs mandated by the state. Statutory provisions establish procedures for making that reimbursement.


• This bill would provide that no reimbursement is required by this act
  for a specified reason.

We will see if this bill passes. But if it does, it may mean the end of Auctioning Off Genome Scans......

Which puts this technology right in line with the rest of healthcare, where it is ILLEGAL/Ethical Violation to discount, rebate, guarantee or refund.

The Sherpa Says: In my mind, this argument seems to be: "You are healthcare or you are Novelty. You cannot chose both" If this law passes it would be in line with the government of California as well as New York......

Truth in Advertising? Hello? Navigenics?

"San Jose Mercury News writer Chris O’Brien recently featured Navigenics in his write-up of Bay Area companies that are succeeding during this global economic downturn. His profile is a pleasant acknowledgement of all the hard work that has gone into creating the genetic testing service that is most recommended by physicians."

That from the Navigenics Corporate Blog.

Are corporate blogs a form of advertising? Because if they are I would love to see the statistical research done to prove that Navigenics' testing is the service most recommended by physicians......

I am certain there are many other clinically useful laboratories out their who would beg to differ with Navigenics' assessment of what physicians want. Sorry, Vance.

Can I get a little help from the FTC here?

The FTC is charged with protecting consumers from "unfair methods of competition" and "unfair or deceptive acts or practices" in the marketplace.(1) Although the Commission seeks to foster a national advertising environment that is both competitive and creative, at the same time, it requires that all claims be nondeceptive and substantiated. This is true regardless of whether you use print or broadcast ads or whether you advertise on the Internet.

-COMMISSIONER JANET D. STEIGER 1996

Does a contractual obligation from a physician management service count as one recommendation from a physician? Or just bad medicine from multiple physicians?

The Sherpa Says: I am glad that they are doing so well that they can buy a lab. But I am not glad they are lying on their blog :( With recent reports out, maybe next they can say that they are the service which enables criminals to steal your DNA less often...

So Good that You Have to Break the Law!

I was asked today by a reporter if I ever gave the thought to the argument that the DTC tests were so groundbreaking, so very vital a technology that the LAWS HAD TO BE BROKEN.

For the betterment of society, these DTC companies HAD to break the law. It was their Moral imperative.

Really? Hmmm......let me see.

Francis is glad these companies are out there raising awareness about genetics. I don't share his thoughts.

1) These companies put their genetic data out as fact. Not exactly raising awareness in the right way.

23andME does rate articles, but that being said, it isn't exactly and independent evaluation. Navigenics gives you rates or likelihoods, which people often don't get. I say the awareness is often hype and confusion, not a true understanding. The recent Cogent study presented at SACGHS bears this out. Great! These companies painted a flawed and confusing picture for the public.

Shouldn't NIH/NHGRI/HHS and leading academic centers be doing the education of the public?

2) These companies broke the law for the betterment of society?

Ok, I ask how is society better from this testing. We now agree as a scientific community that SNPs aren't everything. They may in fact only be a little of the picture. With the recent studies showing family history and blood pressure as better predictors of MI instead of a VERY SCIENTIFICALLY VALID SNP. So I ask, how are we better because of these company breaking the law? We aren't. New York Agrees with me I am certain other states will as well

Sufferage? Yes, Change The Law! Jim Crowe? Yes, break the Law.

DTC testing of patients? Not so clear that it is a moral imperative to make a few quick bucks........on a clinically unvalidated tool.

3) Current research methods are flawed and thus 23andME breaks the mold.

Again, is this needed? Is it ok to violate current international agreements on research in the name of moral imperative? NO. Social networking research over the internet, I think Coriell is doing this. I am certain Academic Centers with IRBs can do this as well. If research partners have IRBs that is good. But if research is done on these companies own, they need an IRB. How is it ok to break these agreements and standards of research?

It is NOT OK.

The Sherpa Says: This bull$h!t argument that these guys are breaking the law as a moral imperative makes me double over and laugh. Is society that foolish to believe this? I for one am not.

Navigenics has a lab.....NYS will likely regulate this too!

Navigenics now is the proud owner of a laboratory. Congratulations! Now New York State has some hefty regulations for you. Otherwise, you can't test people in New York.....Pay close attention to numbers 4 and 5....

NYS Clinical Laboratory Permit Requirements
1. Qualified Director, PhD, 4 yrs post doc work.
2. Application and fee 1100 USD
3. Inspection
4. Assay validation
5. Compliance with all applicable statutes and rules

Assay Validation?????

1. Assay description

Suitable to guide authorized person in ordering the test

2. Consent process
Consistent with NYS CRL s 79-l

3. Analytical validity

Ability to detect and/or measure analytical target

4. Clinical validity
Documented association of analytical target with clinical condition or outcome

5. Reporting format

Interpretation suitable for non-geneticist

Clinical Validity????? Uh-Oh.....

Compliance with all applicable statutes and rules

NYS PHL Article 5, Title 510 NYCRR 58

1. Laboratories may perform tests only at the request of a "person authorized by law" to make use of the test results (physician)
2. Laboratories must report the results of the test only to the person who ordered the test
3. Laboratories may communicate with the tested person only at the written authorization of the ordering person, and then only to repeat the test results

So Much For Direct To Consumers.

Direct billing law

1. Laboratories must bill the person tested (or their insurance with authorization)
2. Provider to provider exception as between laboratories
3. "Facilitators" cannot receive funds from the person tested or pay laboratory service bills on behalf of that person

So much for Genome Broker websites.......

Anti-kickback

There can be NO fiscal or other incentives provided by the laboratory or other entity to the ordering practitioner

1. Payment of any fee
2. Employment
3. Provision of services to the tested person that would otherwise be provided by the practitioner

So Much for that extremely smart and very nice Genome DTC Business Development Lady in Redwood City who offered me tests at Wholesale for Resale at mark up......

The Sherpa Says: A lab is no quick fix for a bad business model or a company that is trying to peddle something as clinical which has NO PROVEN CLINICAL VALIDITY.......Clinical is probably not the way to go for these companies. I think Novelty test is the right way.....AND NOT clinical, until it IS CLINICAL......Too Early, Too Untested....and making everyone suspect of fields which ARE REAL like PGX....

Navi's New Job

In case you missed my recent posts about Navigenics and 23andME, let me recap.





1. They lost their CEO. Who was in essence an executive in residence for one of the venture firms funding Navi. I.E. Kleiner was running Navigenics to begin with.....





2. I predicted that by the summer these companies.....Navi and 23andME would show whether they were going clinical or way of the novelty test....Surprisingly 23andME continues to thumb its nose at academics, by launching research without having its own Institutional Review Board.





3. With 23andME now doing BRCA testing, while Sacramento SLEEPS, or is underfunded.....it is clear their intention is to go clinical and clinical research without taking any ethical or professional responsibility....





4. It is now clear Navigenics will go clinical, looking to recruit it's own lab staff........Where?





Sacramento.......





Who needs Ladders.com when you have Craig's List





Navigenics is a start-up company with headquarters located in Foster City, CA. with funding from three of the top Venture Capital Firms in Silicon Valley. We provide personalized health profiles for customers based on their genetic makeup. For more information see www.navigenics.com.





POSITION OVERVIEW


As a member of the science team, the Clinical Laboratory Scientist will help establish the clinical testing arm of the Navigenics Laboratory which is located in West Sacramento, CA. This position requires knowledge of clinical testing and the ability to be trained in molecular biology techniques, laboratory processes, specialized medical diagnostic laboratory tests, blood test procedures, and medical terminology in order to perform specialized medical laboratory diagnostic tests.





Wait a second........





Navigenics has a clinical lab? Really? I thought they were not doing the testing???? That was their half baked excuse right? Affy, does our testing, so we are exempt from CDPH.....





Well, maybe AFFY's lab is this lab? It IS in Sacramento...but then, why would Navigenics do the hiring????





Is this to appease New York? who has yet to let DTC enter the Empire State!






The Sherpa Says: If the genetics community allows this to happen, I will be surprised......Nawhhh, they are trying to write grants rather than stop the barbarian hoards.....Navi is going clinical, 100% certain of that now. Will they at least take the responsibility which the billionaire predisposed to Parkinson's won't?

HT: BC

Over 200 studies! What is BS? What is Real?

With the advance of genome wide associations we need to collate them and evaluate them. A research physician associate of mine told me that on average 9 out of 10 association studies will eventually be proven incorrect. His research, not mine.

That is a pretty huge number. But it is with that mindset in which I review GWAS. What do I look for? How do I evaluate them? There have been some good articles recently in JAMA which illustrate some of the key concepts.

• In genetic studies, one potential cause of spurious associations is differences between cases and controls in ethnicity, a situation termed population stratification.


• Was measurement of the genetic variants unbiased and accurate?


• Methods for determining DNA sequence variation are not perfect and may have some measurement error.


• Do the genotype proportions observe Hardy-Weinberg equilibrium?


• Have the investigators adjusted their inferences for multiple comparisons?

I have several others to add to this list, but HUGENet covers most of them. What is HUGENet? It is the Human Genome Epidemiology Network and it is a "global collaboration of individuals & organizations committed to the assessment of the impact of human genome variation on population health & how genetic information can be used to improve health & prevent disease."

In essence this voluntary set of collaborators evaluates epidemiologically, NOT CLINICALLY, but epidemiologically whether a GWAS or other Genome study is valid. PLOS reviews thet workings of HUGENet in a nice article.

This is an important network to have.

In addition, EGAPP (Evaluation of Genomic Applications in Practice and Prevention) evaluates the validity and applicability of these results if they are attempted to be turned into clinical practice. This too is a consortium of physicians and scientists evaluating such tools. Genetics in Medicine has a nice article about the methods of EGAPP too.

It is important to note that these are not "in house" services. Why do I say that? Well it is a little cloudy if a company such as Navigenics or deCode is telling you that their tests are clinically valid......Why? Well, they are selling the tests. Doesn't that make you stop and think?

How does Navigenics review studies for clinical applicability? They have posted on it. In essence they require at least 250 cases and controls and have a limited requirement for independent replications.....unlike HUGENet.

Thus the quandary with "in house" statistical analysis for scientific validity OR clinical utility.

The Sherpa Says: If you want to know the skinny on any of these studies, you need look no further than EGAPP or HUGENet....rather than trying to make sense of it through your 23andME account or tursting deCode or Navigenics to provide "unbiased" evaluations.....

The Sherpa is Right! DNADirect moves into the clinical space.

As if my conjectures weren't enough, it seems to me that the DTC genomics space is proving my theories to be correct. It turns out that the real value is in providing analysis of the genetic material, NOT testing itself. When you start giving interpretation, you begin to incur regulations that were not applied to those labs who are doing the tests.

It turns out, people don't like buying genetic tests online. In fact, one of the oldest DTC genetic testing company is NOW turning into a genetic counseling resource service.

According to the DNADirect site:

DNA Direct can help your physician practice or medical center meet this challenge by providing access to genetic expertise that can be seamlessly integrated into patient care.

It turns out that this was one of the things we did at Helix Health of Connecticut of CT about a year ago. We sat a CGC down in a busy IM practice and hoped that they would share and learn from each other. We also hoped it would lead to more referrals.

It didn't lead to too many more referrals, but it did bring the doctors up to some sort of speed. I think this is DNADirect's attempt to get physicians comfortable with genetics and I commend them for this. But I also know that they are in discussions with insurance providers to offer genetic counseling services for Insurers......much in the same light as my friend Heather Shappell.

Here's what I think. The DTC Companies will all evolve in some aspect towards providing professional services. Navigenics does, deCode is moving in this direction and NOW DNADirect is moving into this space. So much so that they are seeking out insurers to provide these services......In fact based on what I am reading they are looking to serve as a "dial a genetic counselor" for regular physicians in everyday practice.

I have thought about providing this service too, but you see physicians actually have a limitation that genetic counselors don't. Physicians have to be licensed in each and every state that they provide medical care......EVEN Telegentics care.....

Counselors don't. I think this is a good thing for counselors, but a bad thing for Pharmacogenomics and Common Adult Disease Genetics. Maybe, this is the out for 23andME????

Or maybe they (23andMe) will continue to deny that they are providing genetics services..........

You see, Heather had pioneered TeleGenetic Services for Cancer genetics at her company "Informed Medical Decisions"

She landed a contract with Aetna and is looking at more third party providers.....

This is a key to expanding our services. Most providers are unaware of OR improperly use genetic testing to aid health services. If you can land in every physicians office with a warm voice and some key skills, it would be very useful........rather than some discussion boards where voodoo medicine and medical misinformation is passed between patient and patient.

That being said, BRCA testing seems to be easily integrated in Internal Medicine services according to recent analysis.....so maybe doctors are starting to get at least one part of it......

What amazes me about 23andME is that a lot of their discussion boards are not proctored by healthcare providers to correct misinformation. This inevitably results in a 17 year old being scared of his prostate cancer risks and someone interjecting "Oh don't worry, more sex can help you prevent prostate cancer."

Is that really outsourcing medicine? Is that really democratizing knowledge? In my mind it is spreading misinformation under the guise of scientific authority.......

I do predict that the other DTC companies, good bad or ugly, will begin to follow Informed Medical Decisions and NOW DNADirect........which are becoming virtual extensions of things like our practice at Helix Health of Connecticut.

The Sherpa Says: Hey Dietrich, if you read this.....do you remember the "Apple Stores???" Ryan has been the leader here and it is clear......the services around the genome are the most valuable things............

Why Facebook and Not 23andME?

Ok, so I am certain you are all aware of the big hulabaloo surrounding good 'ol Mark Zuckerberg and Facebooks' plans to sell user provided content to companies.........The FacebookOSphere was up in arms!!!!!

What happened? He backed down.

Here's my question? Why in the hell do you care about that Drunk Photo more than you care about the information contained in your genome. That Drunk Photo is only a snapshot of your poor decisions at 21, easily explained away. But your genome? How do you explain away an APOE e4 genotype? What about a Huntington's Genotype? Familial Hypercholesterolemia?

I hope you see where I am going. Once your information is online and once you sign a terms of service which says I'm ok, you can end up with this.

To be clear, it's your choice. "We never sell data" without customer consent, Avey says. For personal data, customers consent every time they volunteer for a drug manufacturer's research project. But 23andMe will not notify customers every time they sell genetic data; in that case, a customer's initial consent -- given when first signing up for a 23andMe test -- suffices.

Mark Zuckerberg learned the hard way when he had millions of customers. Maybe since, 23andME doesn't have that kind of user lobby yet, they won't feel the pressure. But since they are already selling customers' genetic data to any one they please, the pressure won't be felt until they have already made millions......

Oh and BTW, User provided content is granted a worldwide, non revocable license to 23andME too........(That certainly smells awfully close to ownership to me).......

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"), unless otherwise specified. However, by posting, uploading, inputting, providing or submitting your submission, you are granting 23andMe, its affiliated companies, sublicensees (including but not limited to sublicensees who avail themselves of the Limited License granted in Section 6 above) and successors and assigns a nonexclusive, worldwide, royalty free, perpetual, non-revocable license to use your Submissions in connection with the operation of their Internet business, including, without limitation, the rights to: copy, distribute, transmit, publicly display, publicly perform, reproduce, edit, translate, reformat, and create derivative works from your Submissions.

Imagine if Zuckerberg had asked his Facebook fanatics to agree to this one!!!! He'd be outta business in a heartbeat.....

It's funny how the rules only apply to certain companies......

I am amazed that all of these technophiles like to verbally assault me about how I feel about 23andME, yet most of the field feels THE SAME WAY about Facebook and some stupid drunk photos or illicit pics......And both companies are saying "just TRUST us" but with Terms of Service like that, how can you???

I guess it's a case of the "A-Rods"..............more people in NYC cared about that than the Stimulus bill signing.....Sad.....

The Sherpa Says: When will people realize that selling your information shouldn't be taken so lightly. It looks like Drunk Pics mean more than SNPs......that's because of public health illiteracy. We should focus on health and physiology not sex-ology in health class.