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

Good Enough Science? Apparently so at 23andme

"A total of 61 individuals involved in five norovirus outbreaks in Denmark were genotyped at nucleotides 428 and 571 of the FUT2 gene, determining secretor status, i.e., the presence of ABH antigens in secretions and on mucosa. A strong correlation (P 0.003) was found between the secretor phenotype and symptomatic disease, extending previous knowledge and confirming that nonsense mutations in the FUT2 gene provide protection against symptomatic norovirus (GGII.4) infections."

This from a report at 23andSerge's "Norovirus Resistance" report.

I don't know what I would do with a Norovirus resistance report........Go on more cruises? Work in a daycare? Have more kids?

I bring this up because I begin to wonder what level of science is good science.

Is highlighting every article as useful as highlighting important and valid articles?

It seems to me that the best thing these companies can do is focus on good things and play a role in dispelling the not so good studies.

Heck, this is something I wanted to do on the Sherpa, but lack the resources....i.e the 13 million to burn on curators. So I select only the most relevant studies for PM and review.

I wonder if they (DTC Genomics) are just pulling up every study possible or if they are actively curating the data.

Because if they are curating, I wonder who is at the helm.

These are the studies they chose for the Norovirus report

Le Pendu et al. (2006) . “Mendelian resistance to human norovirus infections.” Semin Immunol 18(6):375-86.

Lindesmith et al. (2003) . “Human susceptibility and resistance to Norwalk virus infection.” Nat Med 9(5):548-53.

Hutson et al. (2005) . “Norwalk virus infection associates with secretor status genotyped from sera.” J Med Virol 77(1):116-20.

Kindberg et al. (2007) . “Host genetic resistance to symptomatic norovirus (GGII.4) infections in Denmark.” J Clin Microbiol 45(8):2720-2.

Thorven et al. (2005) . “A homozygous nonsense mutation (428G-->A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections.” J Virol 79(24):15351-5.

Just from reading the abstracts not a single study had any number greater than 63 symptomatic patients.

Not a single study in my mind had statistical significance required for an association or a linkage study.

What in the hell is going on with the science?

If an apomediary is to be given free reign (Which I argue they should not in medicine), they better prove they are

1. An expert
2. Knowledgeable about the statistics required for the information presented
3. Not given false information, in science, non statistically valid information
4. Not a harm to the people they provide information to.

I think this is an example of a Big Fail here.

Yet they put it out from the rooftops, yelling on twitter, facebook, their blog, ALL OVER.

What in the hell is this information to be used for?

Even if for fun, it doesn't help if scientifically it is suspect. Isn't this what we bashed DNA Dynasty for? If this company wants to do right by people, they shouldn't boost the unimportant to the level of importance......

The biggest problem about this and other examples is the fact that the studies are not being vetted properly and the rushing to make a big deal out of suspect studies. This is analogous to the press publishing some crap study on the news. Which BTW, I have managed to tune out, because most of what they report is wrong. If they were a news organization, I would not be as pissed here, but they are not clearly just a reporting service, despite what SB 482 said.

23andSerge tests human biologic samples and gives diagnoses. As well as promotes unimpressive studies in an attempt to sell more tests......GREAT BIG FAIL!

The Sherpa Says: If this is the example of expert information that patients/customers can use to empower themselves, I would say they (Both 23andSerge and Customers) could do better reading the National Enquirer for health tips...

Follow up to Yesterday's WTF? Harvard, Navi? and Pfizer???

So I was thinking about all of this hullabaloo and how Beth Israel Deaconess flipped the script by using non-clinically validated, non medical tests to teach residents about medical genetics.....

Yes, that is pretty freaking preposterous in and of itself, but I have a deeper concern.....

"Beth Israel has launched the Personalized Genomics and Next Generation Sequencing Training Program, which includes a series of lectures, discussions, and presentations, aimed at promoting a better understanding of the personalized genomics field and next-generation sequencing technologies."

Ok, so my question is. Who will be giving the lectures?

Let me put this another way.....

"NewsFlash" (This is not true, however it is just as preposterous and written to illustrate a point)

Harvard Medical School has agreed to partner with Pfizer to educate young resident physicians about pharmacology.

Residents will receive a series of lectures crafted by Pfizer to help physicians understand the complexities of pharmacology. To help the young physicians a pharmaceutical specialist employed by Pfizer will take the residents out to dinner and give lectures crafted by Pfizer.

To further enhance the training, all physicians will be given free samples of viagra/modafinil to help them understand how the medication works

"We believe that pharmacology and pharmacogenetics will be critical to the future of health care," Mark Boguski, of BIDMC's Department of Pathology and the Center for Biomedical Informatics at Harvard Medical School, said in a statement.

"Training our residents on the leading pharmaceutical services and technologies will be essential to this future."

(End Fake Story)

Do you get what I am saying yet, or are you such a blind supporter of DTC genomics to see the absolutely clear freaking conflict of interests here?

And for such a school which focuses so much on Conflicts of Interest, I am blown away that this program has not yet been shut down.....

You can email Mark Boguski at mark_boguski@hms.harvard.edu if you think this is as crazy as I do. Or maybe a phone call? 617-432-7375

The Sherpa Says: Do you see what I am getting at Mark? This is sketchy at best....

A few months late to the party....

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

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

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

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

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

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

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

Should they not be interpreting these tests at all?

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

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

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

And hell, why not?

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

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

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

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

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

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

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

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

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

Or so they think.

This couldn't be further from the truth.

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

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

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

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

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

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

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

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

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

IOM not webcast today. Why Not?

The IOM conference "Direct-to-Consumer Genetic Testing: A Cross-Academies Workshop" will not be webcast today? I wonder why not? Was it supposed to be and then submarined after Muin Khoury quoted an email I wrote him while he was presenting?

Why is there no webcast for this important conference today?

Maybe I am just a conspiracy theorist.

But I would like IOM and the National Academies to explain why the cover one day but not the second.

The second day by the way has some great topics


From the Agenda

Session 5: The Impact of DTC Genetic Tests on the Medical System

"If the medical system is no longer required to mediate genetic testing, how will the system cope with losing oversight (and reimbursement) of these services while retaining the full responsibility of caring for patients the services affect?"

Here is a little hint. Currently there is no mediation of this DTC testing, therefore you can see what is happening. Marketing hype, misinformation, inaccurate results, improper provision of the results, lack of follow up, no post services offered to BRCA mutation carriers.

Here's a mind bender, can you bill insurance legally for a ICD9 of Genetic Susceptibility to Breast Cancer from a 23andMx test for a 99245 on a HCFA form? Or is that insurance fraud?

To let these types of tests out in the wild, which we have, is only to introduce a lot of chaos which is not for the "Better" it is actually dangerous to the patient.

Now Back to the Agenda:

"Issues to Address:

Can we model the cost to the medical system of DTC genetic testing?

Reimbursement and DTC genetic testing – are insurance companies involved?
Do they have a role?

How can providers navigate DTC testing and results for patients in the clinic?

How do consumers react to DTC testing information, and what is the impact on their health behavior?"

Well, I would love to hear the explanations, but alas there is no webcast today!

Back to the Agenda

"Knowledge of DTC Genetic Testing Among the Public and Health Professionals"

I wonder if the public read the NY Times article yesterday ?

"It’s important to separate hope from hype,” Dr. Jennifer House, president of the March of Dimes, said at a recent meeting of its national communications advisory council. “Direct-to-consumer genetic testing is a buyer-beware market. Consumers need to be very, very cautious.”

Uh......haven't I been saying that for 2 years now? A little late to the sh!t party huh Dr House?

"At the moment, the reliability of most gene tests on all four criteria is questionable, Dr. Dolan said, adding that the “broad landscape of direct-to-consumer genetic testing is a slippery slope.”

You go Siobhan! Yet another one of Dr Marion's prodigies!

Yet, what Dr Khoury et.al. found is that 75% of doctors who were presented in the office with one of these DTC tests ALTERED care in some way.

What do Healthcare practitioners know about genetics? Very Little. What does the public know? Even Less. Which is why they are such an easy target to market to.

Back to the Agenda

"Cooperation or Competition – How Do Health Care and DTC Genetic Testing Coexist?"

They don't. Someone asked the guy from Pathway Genomics yesterday

"Do you think you are practicing medicine? If not, why not?"

That is the question here. Tell me Navi, 23andSergey, Pathway.........why aren't you practicing medicine?

You take a human biological sample, perform a test, run an algorithm and give a risk for disease. In what world is that not medicine?

Let me guess. "Uh we do those things, but what makes us NOT medicine is that we.....uh......
We uh...........we uh....DON'T CLAIM LEGAL RESPONSIBILITY FOR OUR ANSWERS"

The Sherpa Says: The IOM conference is going to be predictable, unless Google has dumped money into the Academies or the IOM......

National Academies and the IOM

Today and Sept. 1 the National Research Council and Institute of Medicine will hold a symposium to explore the health, policy, and ethical implications of direct-to-consumer genetic testing

AUDIO WEBCAST: Morning sessions on Aug. 31 -- covering the history and likely evolution of direct-to-consumer genetic testing, as well as the regulatory framework -- will be available via live audio webcast at http://national-academies.org.

Don't miss this. I am listening to Muin Khoury right now.

BTW, the best question was just asked. "Do you think you are practicing medicine and if no, explain why not?"

That is the crux of this whole DTC field. I have always thought, they are.......

The Sherpa Says: I will cover this and the NIH conference over the week.

Where from here?

This is the question I am asked so often.

1. We have the steady progress towards cheap genomes.
2. We have the biggest supporter of personalized medicine running the NIH
3. We have "some" clinical awareness of personalized medicine
4. We have the government aware of the shenanigans of some unscrupulous DTC advertising, etc
5. We have several milemarkers under our belts with genome science..... We are moving in the "right" direction, but where do we go from here

There are several areas we need to investigate. I would like to sum a few of them, both basic science and clinical. Basic Science first.

1. We need to understand precisely how gene regulation occurs in the face of certain common environmental exposures. Trans Fat, Tobacco Smoke, Alcohol, Stress. Is it RNA? Is it Methylation? What precisely is it? Maybe it is all of them and more. But the quicker we understand that, the quicker we can look for signs of these ill effects.....and stop them molecularly

2. We need a good CNV/Indel etc database. Toronto sure, I have heard that. But seriously. We need this and we need it now. Give me Normals, Give me abnormals, Give me phenotypes......This is a very key missing piece of the puzzle which neds to be completed in the next 2 years

3. Junk DNA investigation. This will come once we have a database like the one in Iceland......I am certain this will come. I think that next to nuclear fission, the investigation into the "junk dna" will prove to be one of the most fruitful works of governmental science. Yes, you can quote me on that one.

4. Systems biology. This is one of those areas where we will eventually realize the Greeks were right with phlegmatic systems vs bilious systems.......

Now onto the top 3 Clinical Science targets

1. A complete revamping of the current risk stratification system. What do I mean? We need to develop a process for efficiently introducing genotypic risks into current clinical risk stratification. We need to evaluate the with and without and change in AUC......
1b. We need to evaluate the role of integrating family history in some risk stratification models. I know Dr. Khoury/Scheuner et.al are working on these things, but it sure would be nice to have odds ratios and RRs/HRs for adverse drug outcomes, common autoimmune disease risks, COPD, Alcoholism, Suicide, etc. types based on fam hx integrated with current models.

2. Pharmacogenomics......end of story, we need more science here for more drugs. There is not nearly enough clinical study weight on outcomes. I understand why from the Pharma end, but the US government cannot ignore its utility, especially with the pain they feel from Medicare part D
This area has tremendous promise, but has not seen the will from genetics departments, mine looked at my cross eyed when I wanted to do a PGx study. There has to be a will in basic medical science departments like pharmacology and cell biology to understand the processes and polymorphism which really screw up a drug's effect.....or really enhance it. And there has to be a will in clinical departments to study the outcomes with different therapies based on genes.....

3. I want to know what behavioral outcomes are likely with knowledge of one's family history risk versus genome scan risk vs both together vs with no knowledge.

These are some low hanging fruit that could get accomplished and probably already are........

The Sherpa Says: These are not stretch targets, these are do-able things in the next 5 years or so. If we can accomplish most of these, we will be well on our way to evidence based personalized medicine, which is where we need to be........

Pharmacogenetic Indication for a Medication?

That's one way to market the newest medication to prevent stroke, heart attack or stent thrombosis.

Wha? Yes, I mean, Prasugrel otherwise known as Effient is FDA approved for use in these patients.

But one thing I was thinking is that, since the FDA put on the insert of Plavix that 2C19 testing may be useful to identify people who will not respond to Plavix (generic Clopidogrel)

Perhaps, the marketing geniuses over at Eli Lilly could use this as an FDA suggestion that these 2C19 people may be better off with Prasugrel.

Yes, it would be one of the most brilliant ways to market pharmacogenomics. I can only imagine the DTC genomics companies salivating over this "We offer the 2C19, test. Act now, save your life." Technically, It actually could. Yes, all the stops would be pulled out and it could potentially save the DTC genomics companies.

You may be asking yourself, "The DTC companies need saving?"

Yes, they do. Face facts, Research revolution is a flop, nowhere near 1000 people per study. Funny how people don't trust google or anyone without proper research accreditation.

Navi is slashing costs and they have a CEO who is the master of running wastelands (i.e. companies where all the bad assets of a VC firm go)
DeCodeMe.....huh?
Pathway and Tru have no marketing budgets and no real scientific staff.......... Seriously here. WTF?

But, if they could get one big hit from Lilly shoving billions into this PGx marketing campaign, they could be ok. Otherwise, I am afraid, they are lost.

For Lilly it would be a huge win too. Why? Imagine being able to pull a full 1/3rd of all patients taking Plavix off and switching them to Effient/Prasugrel. They could, they really, really could.

So now that I have you attention. The big question is , when will Eli Lilly do this? My guess, in the fall.

Mark my words, they WILL DO THIS and it WILL SAVE companies like 23andSergey and Navi. If of course they offer the test. LabCorp, Genelex and Quest all offer the test now.

But here's the rub, if they offer this and say it is used to make a clinical decision, then they will be a part of the healthcare industry......... Oops, forgot to mention that before. Survive and take regulations or Die..........

The Sherpa Says: This would be the most brilliant marketing campaign in the world, Personalized Medicine awareness would be worldwide, and Pharmacogenomics would hit the stage in a major, major way....Thanks Lilly, call me to orchestrate your campaign.....

Pathway Genomics IS a lab. Not an algorithm.

Today an article came out in BioIT world about Pathway Genomics. (Sounds Eerily like Amway)

With a tagline like, "Your Future, Only Better" I thought that maybe they were like Vanilla Sky or some Total Recall like service. I could only guess how in the world they could offer a better future through a SNP scan.....

Yes another DTC Genomics/SNPscan Company in the game. Hopefully they will accept regulations and not try to manipulate the laws. I hope that they act responsibly with the data and samples. I hope that they will be transparent and honest.

FROM Bio-IT

"In common with other consumer genomics firms, Becker oversees an editorial team to review criteria from the latest peer-reviewed genome association studies. That team includes Victoria Magnuson, who trained with Francis Collins and John Todd and is an expert in type 2 diabetes genetics. “We are putting together a white paper that will eventually be on our website that describes our criteria,” said Becker. “We’ve tried to be pretty conservative as to what is acceptable, validated research versus preliminary research markers.”

Mostly, I hope that they put people with clinical experience into positions of management and decision making. Because if they don't, they will be making the same mistakes as 23andSergey.

Fast follower? Probably. But is fast what is needed here? No, I would say slow and methodical is the best way to be in this business. Which is why DeCodeMe may ultimately win in the end. That is unless they go off the deep end and push clinical tests from recent discoveries without validation......

Oh wait, they already did that........

So to Pathway I say, good luck. My guess is that your tests will cost 75.95 USD very, very, very soon.

The Sherpa Says: Your future, Only better. Damn, I am glad you are around Pathway (Sounds eerily like Amway) because I have no ability to make my own future better without you.

HT Dan V.