Coriell Goes Live!!!

Today the Coriell Personalized Medicine Collaborative website goes live. After many months of really hard work they are ready to show everyone what a Personalized Medicine Collaborative Study looks like. I maintain, without the information to be generated by Coriell, we have absolutely no clue what the heck these DTC SNP scans are clinically worth.

I can tell you what 23andMe thinks they are worth-$399 even for study participants.....

Navigenics- 2500 USD unless being a study participant, then it's $375.......or if you only want access for a year it's $495

Coriell says-They are FREE to participants $0, unlimited genetic counseling included!!!

This is a powerful statement and I am proud to be a member of the Informed Cohort Oversight Board of this "First of Its Kind" Cohort Study!

Why is this important:

1) We don't know if people actually do anything helpful with the tests that they buy from DTC.

2) We don't know whether they have any useful additional information to add towards our risk predicition capabilities. In fact 9p21.3 when added to standard clinical factors including family history, was absolutely useless in helping us risk prognosticate for heart disease. So 23andMe is useless in this aspect.

3) These tests should never have been sold as even "pseudo-medicine" without something other than basic science to back them up. As I said in Number 2, even excellent basic science can fail clinically.

4) No One, and I mean NO ONE, should be able to sell your data to another company without your permission!!!!!

The website is fantastic and lists some significant information. Including important Privacy Information.

Certificate of Confidentiality
The Coriell Institute has been granted a Certificate of Confidentiality under a federal law (Section 301(d) of the Public Health Service Act). This means that records from the CPMC study may not be disclosed, under federal, state or local court order, without your written approval. Data that are protected by a Certificate of Confidentiality may be disclosed to the Department of Health and Human Services if required for audits of research records.

This is stronger than HIPAA and nothing like this is offered by 23andMe or Navigenics!!!

Heck, those companies aren't even considered HIPAA protected agencies. IMHO, that is a risky thing!

Even better, Coriell Collaborates with several healthcare institutions who have enrollment events.

Who is Coriell?

Here they are!

Get ready world! The team is world class and the research is the first of its kind in the world!!!

The Sherpa Says: Today marks a revolution in personal genomics, the day that the world sees this research and that it needs to be funded and carried out......AT ZERO COST to all participants!!! This is ethical research, plain and simple.

Ouch!! CNV with lackluster results....

All it takes is 2 seconds to step on some of my readership's toes and I feel it. Yesterday I posted on a 5% error rate for Whole Genome sequencing, I argued that even at 30x coverage it would not be ready for clinical diagnosis. I had CEOs of sequencing companies emailing me and VPs calling me. I even had pound for pound one of the best bloggers in the space say he was embarrassed for me.....Ouch!

Why do I get pushback from people, when all I am doing is throwing some cold water on the party???

Get ready, because I am about to throw some more.....Remember yesterday when I said SNPs were one of 7 or 8 factors that will differentiate each of us??? Well, CNVs are another of those 7 or 8, 2 more include histone modification and methylation, telomerase activity and size would be another factor, the rest I am saving for my own....for now. I first heard about CNV is 2006 when Mike Murray at Harvard keyed me into these guys, since then I have been following the literature and hoping we could get some results....well, we have but......

Here's the cold water, CNVs are not everything either, despite what some very learned people say.....just like genetic and genomic testing is only PART of the armamentarium for a personalized medicine specialist, CNVs are only part of the story.

True, we may find some very high Odds Ratios and some very specific diagnostics in the CNV space.....unfortunately, the American Journal of Human Genetics lays an egg with a chinese study of osteoporosis CNVs that lead to an Odds Ratio of 1.7 for osteoporotic hip fracture. I was hoping some of these CNV stories would be much more exciting than SNPs....My guess is that alot of the SNPs that we found previously with GWAS may actually just be markers for CNVs....and if that is the case, can we expect that much more from CNV than SNP?

I know some who would say yes, and I look forward to their comments. I think we may see this as the key in some areas, where amount of transcript plays a huge role, like metabolism of compounds or perhaps in cell signalling and migration events, but what about diseases that don't need that so much, structural protein diseases, ciliopathies, etc......

Most importantly, what about the diseases that sneak up on us over time like diabetes or atherosclerosis? I don't think that these will be the answer here. I have a very strong feeling that my equation Genome + Environment = Phenome + Metabolome will still hold true....

The one thing I am certain of is how to make things clinically applicable and right now, CNVs, SNPs, or Whole Genome Scans....there are only a very few limited cases where we can use this stuff......Until the sequencing companies are willing to take the liability for how their product are used, there are going to be problems trying to sell it as medicine without medical professionals......

So sorry to GC, PM, CV, JR, DM and who ever else decided to email me or call me expressing their problems with my cold shower: shake it off, look for solutions and get back to climbing the mountain.

The Sherpa Says: I just want to keep the marketers from overhyping.....Because if we don't, they will "create" our science.....Through slick words and number play published in the New York Times or Wall Street Journal.

Paradigm Shifts.....

I am busily preparing for the Coriell ICOB meeting in Philadelphia coming up shortly. We are set to examine a whole host of new SNPs and their relevance to disease. I also am ramping up our practices in Connecticut and New York City. Traditionally a consult service, Helix Health of Connecticut is going to really put its money where its mouth is...we are taking on a full time role in management of patients.

We certainly are excited about this move. We initially didn't want physicians in our communities to think we would want to "steal" their patients....which has never been our aim....but now after multiple requests by our consulted patients we will begin seeing full time primary care patients in our clinics starting in January of 2009.

Call now to start an intake, we are already filling up quickly.....

We will carry out the usual intakes and genomic consultations, but this time we will also be doing the full time quarterbacking. Sniffles, Chest Pain and Depression all deserve Personalized Medicine, don't you think?

Our team is committed to this and stand ready to serve.

We will be carrying out some amazing projects which I will share with you shortly.

We believe our communities are ready for this care, we hope the government catches on before it's too late......

Real Doctors, Performing Real Personalized Medicine and Genomics.........

To Your Health,

-Steve

Genetic Test or Family History? Which Matters More?

I would say that when used in combination a 3 generation family history and appropriate genetic testing are probably the best tools we have to identify risk for and diagnose genetically linked disease.

So what matters more to patients? What risk means more? The results of a genetic test OR their family history. Hsien Lei touches on this briefly at Eye on DNA, but the interpretation she provides is not exactly what the article said or studied.....What article? Well the one I am about to tell you about...

Published in the Archives of Pediatrics and Adolescent Medicine this week an article entitled:

"Parents’ Concern About Their Own and Their Children’s Genetic Disease Risk"

The article sought to study:
To evaluate the effect of the genetic risk information source (family history vs genetic test results) on parents’ concern about their own and their children’s genetic disease risk.

In lay terms, which mattered more and carried more weight when "assessing" risk by a parent....family history OR genetic testing.....

Hsien interprets this Family History of Disease Scares Parents More Than Genetic Test Results .... I wouldn't say scares......I would say concerns.....or means more to them.....

Fear was not studied in this analysis......Concern was....

The Method:

Parents first received a vignette about their hypothetical genetic risk, randomized as either a family history assessment or genetic test results. Next, parents received a vignette about their youngest child’s hypothetical genetic risk, similarly randomized.

The Vignettes:

Imagine that you have family members with a disease that causes severe symptoms in adults. Having this “family history” means that (you/your youngest child) has a 30% chance of developing this disease. A 30% chance means that 3 out of 10 people will develop the disease.
“How concerned are you that (you/your child) might develop this disease?”

AND

Imagine that (you/your youngest child)gets a genetic test result that says he/she has a 30% chance of developing a disease with severe symptoms in adults. A 30% chance means that 3 out of 10 people will develop the disease. “How concerned are you that (you/your child) might develop this disease?”

So this clearly is a high risk gene 30% likelihood is about what the risk is for Ovarian Cancer carrying a BRCA gene mutation. "Roughly" for my CGC readers who like ranges......

The Results:

Parents were more likely (twice as likely) to be concerned about their own disease risk when
the risk estimate came from a family history assessment vs a genetic test result (odds ratio, 1.96; 95% confidence interval, 1.44-2.68).

But here's where it gets interesting.......Patients perceive the risk of their child's as the same as their own.....clearly not a mendelian concept or even a genetic concept......Even more interesting was the fact that despite this being the case 73% of the time, the other 27% actually were concerned that their child's risk was HIGHER than their risk......

Ah.....you have to love denial!!!!!

Conclusion:

Positive family history of disease generated greater concern about parents’ own risk of inherited
disease than did genetic test results.

The Sherpa's Conclusion? People don't know what the hell they are doing when analyzing genetic risk. Nor do they know what the hell they are doing analyzing multifactorial disease risk in pedigrees....

So I ask you....."Should we expect them to?" Isn't this the exact reason why we have geneticists and genetic counselors? Our job is to interpret family histories and genetic test results....in the doctors' case they interpret full medical history, perform physical examination and review of systems and evaluate other lab values oh, and medication history too.......

Why should we expect patients to know or understand these concepts? Oh, I know why.....because we are trying to thrust onto themselves the diagnostic and interpretive responsibilities in some crazy screwed up way to save costs for the American Healthcare system.....By doing non-clinically valid DTC testing which will be pushed down our throats by Time magazine and the PR firms of the silicon valley DTC firms.....

Or at least that's what some one in this field told me......Personally, if you want to save healthcare costs....fire the coders, HR departments, compliance people, essentially fire everyone who doesn't lay their hands on a patient or handle their lab specimens.........That's where the fat is.....it is NOT in direct care.....

The Sherpa Says: Pedigree analysis, Bayesian Interpretation, Molecular Biology and Genetics are not taught in high school...why In the hell should we think everyone will be able to use DTC testing, which doesn't even throw family history into the mix......Silly....real silly......Stick with your Sherpa.....don't try to climb mountains on your own.....

Daniel Ballon Off Course with DTC testing!

I read an interesting article in the SF Chronicle today. It was entitled State off course on 'personal genomics' Authored by Dr. Daniel Ballon PhD...

He raises some interesting points that I would like to highlight.

Why would a state that regards itself as progressive and high-tech act to censor what we can know about ourselves? Though regulators may shut down unscrupulous firms, the services offered by Navigenics and 23andMe meet the highest standards of accuracy, validity and reliability. The laboratories employed by both companies are fully licensed and trusted by researchers around the world.

First off....it didn't start that way with 23andMe.....Also, I just found out they came to Yale Genetics in '06 looking to database people and their samples.......hmmmmm

California is progressive, but it is still a state which believes that government should help protect its citizenry, and this is likely why it acted. There were some really bad players out there....now that the well funded firms could hire legal defense to open back up, they have....those less funded buggers shut down.....who was more scrupulous.....I couldn't tell....but who was more funded I certainly could tell.......

I Highlight "the services offered by Navigenics and 23andMe meet the highest standards of accuracy, validity and reliability."

Simply because we need to ask what these three words are that Ballon PhD throws around as if they are the gold standards.....

Accuracy? Of what? Of what your genetic code is? If that is all they are providing, then maybe this is the most important thing...but if they start providing risk estimates....then that accuracy, I am afraid is terribly flawed and often not agreed upon by physicians or a host of scientists...So if we are judging that accuracy.....we have a big goose egg there....

Validity? Of what? A valid genotype? What is an invalid genotype (Well, that's what the natural born were called in Gattaca) Are the genotype results valid? I would say yes....the same as they are accurate.....in the genotyping realm this IS the same thing. But I think Ballon PhD is trying to get you to believe that the interpretation IS what's valid......For the majority of medical estimates (Which BTW IS medicine, I don't care what anyone says about that) their estimates are not valid.....validity used as an adjective describing assertions, arguments, conclusions, reasons, or intellectual processes that are persuasive because they are well founded. In this case that validity would be scientific or medical......most of these SNPs fail on both counts....therefore Dr Ballon.......DTC just laid another big fat goose egg.....strike 2!

A great example includes the fact that there are more failure of replications in SNP data, than replications......

Reliability? of what? The genotype? Isn't that the exact same thing here when we are dealing with As, Cs, Gs, and Ts? Are the letters what they say they are and can you trust that you will get the same letters every time? I hope so......But if you are talking about the reliability with which you can trust the interpretation reports.....once again I say you fail......why? The science isn't there to create a reliable report on most of these SNPs......So again.....Strike 3....

Don't believe me......look at the last month and the SNPs in 9p21 a region argued that is highly linked to heart attack.

1. linked to Irish heart disease

2. Failed to replicate in the Dutch

3. Replication in the Chinese

4. Now linked to Alzheimer's Disease if you believe it........

So which is correct? More importantly.....will testing this help us risk stratify any better? Will it help us treat any better? Will it help prevent disease? None of these questions have been answered scientifically yet.....Not a single one! No where is this mentioned in regards to validity, accuracy or reliability....yet these reports include risk assessments...based on these SNPs!!!!

He then makes this absolutely bogus argument....

If residents must obtain permission to see their own bodies, however, why can they look in the mirror without approval from a licensed cosmetologist?

Well, if I needed to put my eyes in a tube, ship them off to a lab, and the lab would need to tell me what I saw......I would say yes, that lab should be licensed.....

But, listen Mr. Biased, your statement tells me that your "Insight" is clearly skewed and biased

Unlike cosmetologists, doctors have a powerful lobby in Sacramento, and these technologies directly threaten their profits. Personal genomics aims to empower the individual, not line the pockets of an elite medical establishment.

So let me get this straight...

1. The doctors have more of a lobby than the billions of dollars in tech and in Google.

2. DTC testing doesn't line any one's pockets? Oh wait.....it lines the pockets of....oh wait, these companies are still bleeding cash......And BTW what doctor should you skip seeing because you have one of those new fangled scans....skipping doctors appointments is a bad thing.....that is one of the reasons why California stepped in.....b/c most patients are willing to trust an unvalidated SNP scan when it tells them they are healthy.....

3. These technologies threaten doctors profits?????? Have you ever seen a billing code for bogus SNP scan...insurance would never pay us to interpret this data......So no dipping into our paying patient populace......Sorry, another false argument....

Lastly, here's a myth buster for ya Mr Ballon....

You say

For example, it is currently impossible to know the hundreds or thousands of tiny genetic variations that help explain why someone loves roller coasters or horror movies. If 10,000 people join an online network for thrill seekers and start comparing their genetic profiles, the variations they share will be obvious.

10,000 patients wouldn't even come close to enough data to draw any meaningful conclusions regarding this highly variable phenotype of thrills.....SORRY......So stop making the public think it will.

So I ask all reporters.....if you are going to put this swill out there and hope it stands up as an argument......I say, think again.....

Daniel R. Ballon is a fellow in technology studies at the Pacific Research Institute in San Francisco. Contact us at insight@sfchronicle.com.

The Sherpa Says: Dr. Ballon needs to go to medical school or maybe just spend some time with the clinicians and scientists actually working on personalized medicine.....rather than hang with his Spit Happy crowd in the Silly Con Valley. Mr. Ballon, you stick to Cell Bio and I'll stick to Healthcare.......sound reasonable???? Sometimes business regulation is necessary, I think we see that crystal clear now.

In the New England Journal Again! CRP genetics!

Trick or Treat..... That's Russ Altman, Disguised as a Wolf-Man!!!

First the Treat!

Ok, so I hate to say it, but I am firmly convinced that the New England Journal of Medicine has been taken over by geneticists!!! I jump for glee as I open a new edition and see genetics plastered all over it.....just like the week before......and the week before that! It is true....medicine will soon be a small sub specialty of genetics!!!!!! At least if the NEJM has their way with it!


Now for the Trick

But then I stop....pinch myself and ask "Now which company will rush to market with these findings???"""

The biggest danger to Personalized Medicine is not the lack of physician understanding. Nor is it the lack of good reimbursement systems. Nor is it the lack of education in medical school. Nor is it the lack of patient desire.

It is one thing and one thing alone.......The overselling of Genomics by corporations. 9p21! Failure to replicate!


Eager to earn a quick buck or two.....or perhaps eager to bleed cash for a few years until the tide comes in, but also willing to mend that bleed by hyping some bogus test...

This is the danger.....Why? Let me explain....


When I give grand rounds at some hospital in Connecticut I am often asked......"So do you do that 23andMe test? Isn't it bogus? Isn't most of what you do not actionable?" First I am amazed a doctor has even heard of this company...but then.....


I then have to take 10 minutes and explain what a geneticist does. I have to tell them about the several victories we have in being able to identify risk and treat disease. I have to tell him about chemotherapeutic agents targeted to tumors. I then have to tell him about the promise of gene based dosing of medications. And when I am done, they will walk away......Still thinking about these companies.....


You see, if the physician thinks that genetics is hyped up molecular tea leaves.....they are less likely to put it into practice. In fact they are even more likely to skip that article in the NEJM......By hyping, overselling genomics we are making physician skeptics. The very people we have to convince that there is great utility in personalized medicine......


When Time puts on their cover that the number one "Invention" (I say this because it wasn't invented in 2008) was the retail genomic test. I laugh because they are dead wrong and once again botched the story. You can ask Ryan Phelan, she has been selling genetic tests online since 2004. No new invention with 23andMe, just the re purposing of a research tool for clinical work....which normally takes years to happen, but in this case was rushed to market in a matter of months.....Medgadget calls this like it is TIME Magazine Panders to Google Overlords, Silicon Valley Czars, Hollywood Charlatans.......


So thank you DTC SNP testing companies.....you have set back personalized medicine about 5 years...while democratizing SNP chip data which no one can make sense of......By using celebrity and affluence you managed to convince people of the fallacy.....

But you see, doctors are pragmatic and they can smell the B.S. (Not the one issued to A.W. at Yale) from a mile away!

But the problem is, doctors aren't that nuanced and when they smell B.S. they call the whole field B.S.


So why do most geneticists speak out against DTC testing? Because it is ruining personalized medicine by lumping it in with this B.S. When will DTC learn this?

Well, one team has....That's Navigenics. They have decided to partner with Academia to study the utility of this testing. They understand it is in its infancy. Since the million dollar party in SoHo (No Navigenics doesn't have a shop in SoHo) they have realized that this is a long haul and the best way to work through this time is by proving the concept through science and an Institutional Review Board. Unlike the "Founders" of 23andMe, who instead choose to enroll children into their "study" without an independent review board to protect vulnerable children's rights....

Shout out to Coriell who has been doing the "Right Thing", since the very beginning....but I guess that's because they aren't trying to make a quick buck or 2.


So as a doctor when you skip over that Genetics article in the NEJM thinking this field is all GenoHype....stop, come see the Sherpa and we can talk about the part of genetics which is real.....



The Sherpa Says: I am dead serious. If this "it's for fun talk" keeps up, personalized medicine will be dead in the eyes of the physician....Oh and BTW, the article said that CRP polymorphsims (associated with increased CRP) alone do not increase risk of ischemic vascular disease (Heart attack or stroke), But elevated CRP levels do......Maybe genes aren't everything?????

Everything that's great comes from blogging!

Today, I want to point out what Webicina is and why it is important. You may be asking yourselves....webicina? What the heck is that? and Why should I care....

Here's why. Just about everything in my professional life has gotten light years' better since I started blogging. Some notable achievements.....

1. Invited to participate on the Coriell Personalized Medicine Collaborative's ICOB
2. Invited to speak on a panel with Navigenics, 23andMe, deCode, DNADirect
3. Inivited again to speak on a panel with Linda Avey (this one for the second time)
4. Invited to speak to the National Society of Genetic Counselors about personal genomics
5. Working on a scientific collaboration with OSU (and many others) because of blogging
6. Interviewed by Karen Shughrue of 60 Minutes and the NYT and the LA Times and MSNBC and CBS.........
7. I met some great friends
8. I have been asked by 3 web health companies to help them create genomics resources
9. I have formed 2 companies because of blogging
10. I have learned to handle the masses of people who disagree with me in much better fashion
11. I have sparked a national debate when everyone was cheering something that was not quite of value.

I could go even further but I won't b/c I want to talk about how it all started.

There was this guy named Bertalan Mesko.

He saw that I started a lowly blog back in March of 2007. He stepped in and said, "Let me help you build your blog" First you have to get HON Coded, next you have to join a group, then you should do 1,2 and 3..........Why was this important?

You see, Berci (as his friends call him) was starting his company without even knowing it. What he did for me, he had most certainly done for dozens of other blogger....the fruits of his labor are now called Webicina!

What can Webicina offer you? exactly what it offered me.


Medicine 2.0 Packages

The tools and services of web 2.0 can facilitate the work for medical professionals and help patients as well. If you would like an even more efficient medical practice; more productive research, pharma team; or you would like to know web 2.0 sites focusing on your medical condition, Medicine 2.0 Personalized Packages are created for you.Medicine 2.0 Package is a personalized set of web 2.0 tools designed to solve your problems. If you would like to know which part of the web you should follow, which websites and services could be useful in your work, that is what Webicina can help you with.

Contact us for more details.

Online courses
The world is at your fingertips. If you would like to know
how to follow the medical papers of your field of interest more easily
how to create a medical blog, how to be up-to-date in your field and more productive in your practice,Webicina's E-Learning Tools are made for you.

You tell us what your problems are with effectiveness and we provide the online materials and tutorials through which you can easily learn to use the tools and methods you need to improve your service or work.

Contact us for more details.

Building medical blogs and online reputationIt is crucial for a medical professional to have a well designed online image. Patients are more likely to search for the name of their doctors to find some information about them or their practices. And the information they find online should represent their pratice properly.A medical blog is a perfect tool for establishing an online presence.

A medical practice can be represented successfully through a reliable blog, profiles in the best medical community sites or an online résumé as well.

Contact us for more details.

Consulting and workshops

If you are about to launch a medical website or community, our consulting service can make you more successful by providing creative ideas and practical pieces of advice.If you would like your collegues or employees to know more about the possible implications of web 2.0 in your field of interest, Webicina can help you through in-person presentations, workshops or online webinars and Second Life meetings.

Contact us for more details.


It is pretty plain and simple. Berci (Webicina) launched the Gene Sherpa! There is no reason why they can't launch you too.......

The Sherpa Says:
Hopefully Webicina will collaborate with Helix Health of Connecticut of CT to create online educational conferences this coming year........

Translated yet???

I am posting in response to Drew at ThinkGene. He says no one will follow mandates unless they have the history to understand those rules. To lay some background for why medical researchers have policies, rather than gunsling it out I will give some background. From HHS.....

The modern story of human subjects protections begins with the Nuremberg Code, developed for the Nuremberg Military Tribunal as standards by which to judge the human experimentation conducted by the Nazis. The Code captures many of what are now taken to be the basic principles governing the ethical conduct of research involving human subjects.

In case you may have not learned in school or just forgot this lovely wikipedia article will refresh your memory. So will this list:

1 Experiments
1.1 Experiments on twins
1.2 Freezing experiments
1.3 Malaria experiments
1.4 Mustard gas experiments
1.5 Sulfonamide experiments
1.6 Sea water experiments
1.7 Sterilization experiments
1.8 Experiments with poison
1.9 Incendiary bomb experiments
1.10 High altitude experiments

The first provision of the Code states that "the voluntary consent of the human subject is absolutely essential."

Freely given consent to participation in research is thus the cornerstone of ethical experimentation involving human subjects.

The Code goes on to provide the details implied by such a requirement: capacity to consent, freedom from coercion, and comprehension of the risks and benefits involved. Other provisions require the minimization of risk and harm, a favorable risk/benefit ratio, qualified investigators using appropriate research designs, and freedom for the subject to withdraw at any time.

Now 23andMe is not exposing patients to mustard gas or mutilating genitals....But the principles exist not just for unethical research, but for ethical research too!.

From Wired Magazine, a quote from Anne Wojcicki regarding her Gene Journal and risk calculator"A lot of this is unknown. It's totally experimental," Wojcicki told me a few weeks before the science board meeting. "No one has looked at all eight diabetes markers together. They've all been identified individually, but they don't know exactly how they work together. So we've tried to make that clear."To crunch these numbers and determine one person's risk factor, 23andMe has opted to multiply the risks together. But a competing school of thought argues for adding the risk from SNP to SNP. The two approaches can result in wildly different tallies.

Welcome to the first Google driven experiment in genetics, paid for by the customers......Unfortunately that poor author from the NYT demonstrated her clear lack of that understanding. And she is a learned journalist, what's to happen to the layperson who has never had any education in genetics/science?

IRBs were formed to protect research subjects. Why could Dr George Church only get a select few for his first personal genome project? The IRB deemed laypeople unable to give informed consent. How did 23andMe end around the IRB?

23andME "Genetics By Business"
The Mission? Mission Statement23andMe's mission is to be the world's trusted source of personal genetic information

I want to over IRBs history a little more. Because, Trust is a very important word.

In July of 1974, the passage of the National Research Act established the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The Commission met from 1974 to 1978. In keeping with its charge, the Commission issued reports and recommendations identifying the basic ethical principles that should underlie the conduct of biomedical and behavioral research involving human subjects and recommending guidelines to ensure that research is conducted in accordance with those principles.

The Commission's report setting forth the basic ethical principles that should underlie the conduct of biomedical and behavioral research involving human subjects is titled The Belmont Report

The Report, named after the Belmont Conference Center at the Smithsonian Institution where the discussions which resulted in its formulation were begun, sets forth the basic ethical principles underlying the acceptable conduct of research involving human subjects. Those principles, respect for persons, beneficence, and justice, are now accepted as the three quintessential requirements for the ethical conduct of research involving human subjects.

While recognizing that the distinction between research and therapy is often blurred, practice is described as "interventions that are designed solely to enhance the well-being of an individual patient or client and that have a reasonable expectation of success. The purpose of medical or behavioral practice is to provide diagnosis, preventive treatment, or therapy to particular individuals."

The Commission distinguishes research as designat[ing] an activity designed to test an hypothesis, permit conclusions to be drawn, and thereby to develop or contribute to generalizable knowledge (expressed, for example, in theories, principles, and statements of relationships). Research is usually described in a formal protocol that sets forth an objective and a set of procedures designed to reach that objective.

"The Report recognizes that "experimental" procedures do not necessarily constitute research, and that research and practice may occur simultaneously. It suggests that the safety and effectiveness of such "experimental" procedures should be investigated early, and

that institutional oversight mechanisms, such as medical practice committees (exist).

So this is why I have a trust issue. Drew points this out at ThinkGene today.

If the Fox is watching the Henhouse.......how can we have significant trust? Just like the senators getting campaign donations by Freddie and Fannie.....this reeks!

The Sherpa Says: Since 23andME is not practicing genomic medicine, it must be researching genomic medicine. So according to the Belmot Report and Nuremberg code, their "subjects" should be able to withdraw from research and have the benefit of an IRB. As for sample removal......it should be justified which tests will be run and patients have the opportunity to refuse or be reconsented.....That's how you win my trust....

The 10k USD Gene Sherpa

It's official. Our little poll is closed. 18 days, 14 votes. That's pretty sad. But from the limited and not statistically significant data, I am able to draw a false conclusion that the public feels that a Sherpa is worth 10k/yr.

How's that for profit margin? Perhaps the readers who felt empowered to vote are geneticists and counselors, therefore obviously biasing the data. But what really is a Sherpa worth? Our Sherpas at Helix Health of Connecticut are worth that much, but cost much less.

I was asked today by an investor "Where do you see personalized medicine headed in the next five years" I answered "It depends" Over the weekend I will list my scenarios and go over what I think the outcomes might be in different scenarios, so stay tuned. One of those big scenarios depends on how the data comes out.

A few colleagues over at Coriell are looking to create some of that data. In a collaborative effort called the Delaware Valley Personalized Medicine Project they hope to give us a glimpse into how this revolution may evolve. Thanks to my wonderful OraGene rep Melanie for this info. This is precisely the type of studies that need to be done to guide personalized medicine. Marker studies are cute. Outcomes studies have teeth!

Lastly, do you remember when I said that we still have alot of convincing to do? This post at Medical News Today is concerning. Funny, in Australia they refuse cancer risk assessments, but remarkably the DTC company testing for athletic ability is doing just fine. It truly is funny where people place their priorities.

The Sherpa Says: As I talk with more and more investors it is getting clearer, maybe the money is not in Personalized Medicine. That's why Australian healthclubs are pimping ACTN3 testing.