Monday, June 16, 2008

Streets of Philadelphia

I want to point all of you to a comment on my blog. This is in regards to my post yesterday. I was accused of responding arrogantly. I don't think it is arrogance....I am just shocked and awed that some in the public think that they can do this on their own without professional help. Do you build your own home? What about fight your own court cases? Some do their own taxes...but only when it isn't complicated. Trust me, this IS COMPLICATED! Now on to the comments.

well, I am a geneticist (though not a human one) so I guess that makes me not a typical customer but I can only say that my experience talking genetics with MDs has been appalling.

I agree. Most physicians can make a hash of it. This does not mean that they do not understand the medical risk of those genes, just the mechanisms. I think we would do ourselves well by trying to teach these soon to be gate-keepers.

23andME and these other *dedicated* services do a much better job of explaining genetics - especially on a genomic scale - to people than doctors, who are only really comfortable prescribing antibiotics.

First off, what does he/she mean by genomic scale? Shouldn't we be focusing on a medical scale? Or how about a health and illness scale? This is where physicians could excel! I am certain 23andMe does a very nice job showing what they deem to be the correct risk prediction.

Secondly, your commment on the comfort level of physicians is appalling. This type of arrogance is what got similar persons into a whole heap of trouble with the government. Hanging in a lab is not practicing medicine my friend. Nor is discovering a novel pathway! Although both are needed for the progression of this. JUST LIKE GENOMIC MEDICINE IS. So how in the heck do you know what physicians feel comfortable doing? We apply the research, we assess risks and benefits every single day. Man, I am so pissed at your statement I am sick. Especially as I sit here reviewing SNP data for the meeting at Coriell. Where we will be applying research and evaluate the appropriateness of releasing these risk SNPs. Did you know that 9p21.3 is only applicable in certain populations? You wouldn't know that from the commercial upselling of this marker. "Confirmed in US and European populations"

the other anonymous is correct -- this is blatant rent seeking and will greatly harm the public interest.

Tell that to the SACGHS, Senate, House, 24 states that outlaw DTC testing, CDC, NIH, I could go on and on! Come seeking? This is regulation in the Public's interest!

People must be allowed to learn for themselves not be obliged to hand over money in fear to a vested interest only to be handed down "expert" judgements.

Isn't that what the companies are doing? There are a ton of experts selling tests that have no replication, no validation and no significant OR/RR.

association studies are going to be coming in faster and faster.

Just because they are coming in doesn't mean they are accurate...or applicable, or have clinical utility. Sorry.....

how often should I go back to my GP for another fee and another opinion?

This demonstrates your lack of knowledge about medicine. Ever been back to your PMD for a Blood Pressure Check? What about a yearly physical? How about follow up for an abnormal lab test? This IS what physicians do. This is so very telling!

the public might be lazy but they are not stupid. let them learn.

I agree. Start teaching the physicians AND the public. Step out of the lab and TEACH!!! As for that public.....less than 40% are barely health literate or even illiterate. Even well educated patients forget what medications they are on. In a recent study, 1 in 5 patients admitted for Heart Attack forget that they were started on a new medication, when called 2 weeks after their admission. So I ask you, how can we expect them to recall their SNPs or their risks, without ANY help!

We are meeting in Philadelphia to help. We aim to help the clinician, the patient and yes even the corporate genomics companies by demonstrating good due diligence in a group of experienced clinicians and scientists. I can't tell you about the panel yet. But once I get the ok, I will tell everyone about us.

The Sherpa Says: Well, I think we now know why the government had to lay down the hammer. This Geneticist demonstrated the dangers of thinking that medicine is stupid and that they know everything. I am not against patients and physicians learning about their genomes.....I am just against medical testing without healthcare involvement. When we release our reports, I will let you know.


cariaso said...

> Do you build your own home? What
> about fight your own court cases?
> Some do their own taxes...but only
> when it isn't complicated.

I'm allowed to do all of those things. But I'm sure the homebuilders, lawyers, and cpa associations would prefer if I wasn't allowed to.

If you position yourself (&Helix Health of Connecticut) as the trusted experts, I might use your services once I see something complicated. But most people who've been tested seem to conclude that their genetics reveals very little which requires action. If I find out I have something more interesting I may well use your services. But you want to prevent me from being able to look at my own DNA without your permission, and therefore without putting a few bucks into your pocket.

Doctors will continue to play a role as experts and gatekeepers on access to prescription meds. But if I only want to look at my DNA I shouldn't need your permission.

Anonymous said...

This is NA posting.

Quote: "But if I only want to look at my DNA I shouldn't need your permission."

The real issue is not about permission. The real issue, to me, comes down to consumer protection, more precise testing selection, accurate family his interpretation, more accurate genetic-envrionmental interlationship risks, and accurate risk calculations.

A consumer ordering a genetic test may not need the test they are offering.

Dr. Sherpa, I sent you an email about a question I have (you know who I am).

Anonymous said...

The truth is that this is just a knee-jerk reaction by California regulators. The genie is out of the bottle and there is no way they can put a lid on at this point. The technology is out there and, from the consumer point of view, is as simple as shipping a sample of saliva. California resident or not I can always ship a vial with saliva to Iceland, Canada or elsewhere in the world outside of reach of US regulators.

It is obvious that the policy is flawed in itself. The government is simply unprepared to deal with genetic testing. "People fear what they do not understand". I would compare this predicament to the government efforts to curb export of strong encryption technology back in 90s' which ultimately failed costing US companies billions in lost market opportunities. I would appreciate that they focus on fixing the broken healthcare system rather than going after handful of genetic companies.

Anonymous said...

Sherpa, who do you think you are?
Are you eager to earn money and you don't know how?

People have the right to know about themselves. This includes DNA. If required, they will consult you, but only if they desire.

Anonymous said...

I'm confused. What harm are you expecting to come from genetic TESTING? Can you cite some examples? You seem to be saying the results are difficult to interpret, and I'll grant you that. But your argument seems to be that the results are SO difficult to interpret that they can ONLY be done by a CERTIFIED professional and you seek to mandate that for the public good. Again, what harm do you expect to come from joe-user trying to learn about his genome on his own? Even if joe-user completely interprets his results incorrectly, WHAT HARM WILL COME from this? (Please don't reply by saying "trust me, harm will come." as you seem to have done in other posts.)

On the flip side there are stories of non-medical personnel doing research and discovering new things. One commonly known example is told in the story "Lorenzo's Oil".

I can appreciate needing a doctor to be able to ACT on the results of a genetic test (take drugs, have surgery, etc.) but it seems society is better served by having open access to information (and maybe closed access to action).

Thomas said...

It would indeed be interesting to hear your opinion about the difference between the right to access information and the necessity to regulate actions based on this information.

The comparison with surgery seems rather misleading in this context. I have the right to look at my knee if it hurts. This is different from performing surgery myself when it hurts. Shouldn't I have the right to have access to any information related to my health, even if it is complicated? And then seek for advice and help to decide what action should follow and actually perform this action, based on this information?

I would appreciate your insight on this...

Steve Murphy MD said...

I firmly believe everyone should have access to their data. Does that mean you should be able to go to your chemist to get your cardiac catheterization? Just because you want to know what your heart arteries look like? What about wanting to know what your lungs look like....if you look enough with a CT scan you can eventually get cancer. Why is this all about the SNP scanning companies? I hope all of you realize that there are very big quack tests being sold as medical info. How come that isn't on your blog? It should be. A one-sided argument as some on this blog point out is not doing any of us any good.


non-human geneticist said...

I am the non-human geneticist that seems to have warranted a response post. Two comments.

First, the gene sherpa seems to have taken my observation that MDs are less equipped to understand and explain genetic variation data than the dedicated services (23andME et al) as a reason to make MDs the gatekeepers to all genetic data. I find this very confusing.

Second, my genetic information is mine. I do not have to pay off an optometrist to look in a mirror and see that my eyes are blue. I do understand that should I want further information (perhaps I want intraocular pressure measured) and I want a professional to do this (perhaps I do not have a tonometer) that this will cost. But why is my genetic data different? If having looked in the mirror of 23andME (poetic, no?)there is something that looks medically relevant - or something I am unsure about - for sure I'll go for a consultation and get it checked out but I don't see why I have to pay automatically.

Anonymous said...

"Does that mean you should be able to go to your chemist to get your cardiac catheterization? Just because you want to know what your heart arteries look like? What about wanting to know what your lungs look like....if you look enough with a CT scan you can eventually get cancer"

There is an excellent case for requiring a doctor's permission for these tings. There is a chance of serious side effects that must be weighed against the potential benefit. This is a calculation that requires a trained doctor. But in the case of a SNP test there are no side effects at all, and, therefore, no need to do this calculation. Why should this test be regulated differently than a pregnancy test? They seem to be the same to me in terms of risk.