December 07, 2011
Yet Another Annoying Call For Genetic Expert Gatekeepers
The amount of genetic and other biological information we are going to have available is about to explode.
CHAPEL HILL, N.C. – The era of widely available next generation personal genomic testing has arrived and with it the ability to quickly and relatively affordably learn the sequence of your entire genome. This would include what is referred to as the "exome," your complete set of protein-coding sequences.
But as University of North Carolina at Chapel Hill medical geneticists point out, this avalanche of information also includes the totality of one's genetic mutations and as such arrives with both promise and threats associated with its use.
But some experts think we are going to hurt ourselves with it.
James P. Evans, MD, PhD is the Bryson Distinguished Professor of Genetics and Medicine at UNC and is a member of the Lineberger Comprehensive Cancer Center. He is also editor-in-chief of Genetics in Medicine, the journal of the American College of Medical Genetics. "What you're now dealing with is a real medical test, one that has the power to help, hurt and to confuse. I believe we need to think carefully about how to best use it and how that use should be regulated in order to maximize benefit and minimize harm," he said.
People hurt themselves every day playing tennis, driving cars, skateboarding, mountain climbing, and even bounding down stairs. There's no shortage of ways people do themselves harm. They delude themselves with bad ideas and make wrong choices. We do not, as a result, try to prevent them from doing most activities.
When the potential for harm is used to claim justification to restrict the flow of information I think we should look very critically at such claims. The easier the flow of information the greater the potential for innovations in its use. We suffer huge opportunity costs in innovations foregone when we restrict interpretation of valuable information only to certified experts. Yet these academics want to do just that.
"Now we are entering an entirely different era due to the advent of robust sequencing technology. We have now the potential to tell people very real and important things about their genomes. Some of those things can be very useful and very welcome if acted upon in the right way, but some of that information may not be very welcome to people: being at high risk for an untreatable disease such as dementia, for example."
As to regulation, Evans and Berg suggest that it need not be draconian but must be nuanced. "Basically, what we call for is that this new generation of medical testing be treated like other medical tests that involve complex medical information – and that there should be a reasonable expectation that an individual who gets it done has some relationship with a qualified care provider."
So they don't want you to get genetic testing or genetic sequencing done without supervision by a certified expert. I don't just find this position offense and excessively nannyish. I also find it as sub-optimal in terms of benefits because if it gets translated into regulatory policy it will greatly slow down the rate of innovation in interpretation and use of genetic testing data and medical testing data.
What we need: freedom from one-on-one dependence on certified experts. Then with genomic information is that it is so voluminous and genetic variants have so many different consequences for us that any one human being won't be able to be an expert on it. We really need complex information systems as advisers and interpreters of the data. We need competing companies building those information systems with others constantly rating and comparing the quality of advice provided. The old model of certified expert is just too slow and excessively paternal and controlling.
Do they even require a molecular genetics course in med school? I'm pretty sure that with a year of college genetics under my belt, I know a hell of a lot more than any doctor I've ever met.
Gatekeepers are, by definition, parasites. Certified experts, playing the role of gate keepers, are also parasites. This is called rent-seeking parasitism, and we already have too much of this in our society.
>"People hurt themselves every day playing tennis, driving cars, skateboarding, mountain climbing, and even bounding down stairs."
They hurt themselves. The potential harm here is not you hurting yourself, it's other people hurting you. A prospective employer might want a DNA sample from you, for instance. Then they can refuse to hire you because you show up as somebody with a greater than average risk for some disease.
Yes, doctors know very little about genetics and have lots of other things to learn about.
Note that they refer to a "qualified care provider" rather than doctor. They know they can't say medical doctor there. But if not medical doctors then who? Expertise in genetics is sufficiently rare that the idea that the average person is going to be able to consult in person with a genetics expert can't be taken seriously.
One advantage of letting internet web services explain your genes to you is that it scales. It can be way cheaper and far more in depth and on-going. The idea of consulting experts one-on-one costs too much, the results are far too error prone, and it is too time consuming and doesn't provide a constant flow of information about new discoveries.
What's at issue here is whether you can get yourself tested, not whether employers can. The latter is not the battleground the regulators are gearing up to fight on. What they want to do is shut down direct-to-consumer genetic testing.
My bet is that there will be new governmental regulations restricting testing and access, which will create new, costly medical services - and an entrenched practitioner elite whose high incomes are protected by law.
The nanny-state is getting bigger more intrusive and controlling, but not really as empathetic as nanny was.
"Do they even require a molecular genetics course in med school? I'm pretty sure that with a year of college genetics under my belt, I know a hell of a lot more than any doctor I've ever met."
Most physicians take a course in genetics in the second year of medical school. It is approximately as lengthy and difficult as the year of college genetics you got. There are also mandatory courses in biochemistry and epidemiology/biostatistics that overlap with some of the same subject matter.
It is true that their training is not as rigorous as the course followed by someone who gets an entire bachelor's or master's degree specializing in molecular biology, genomics, genetic counseling, etc. But I think you are overestimating the value of your year of college genetics relative to what is taught in medical schools.
The problem with genetic testing is that it is useful when it is context dependent. Results are not always black and white; there are frequently results with unclear meaning. In a particular context of a disease, the test is probably meaningful; but an abnormal result without the proper clinical context is probably meaningless. This concept is hard for most doctors to understand. We see patients in genetics clinic who have been told that a genetic test indicates that they have a disease, although they don't really fit the symptoms of the disease. Many physicians think that an abnormal result is synonymous with disease, and that is not necessarily true. In the scientific literature, even trained geneticists have made mistakes of overinterpreting genetic test results. In a rush to publish, researchers will find a mutation in one gene in a patient and claim that the mutation must be causative; subsequent studies fail to confirm, and the result is probably an aritifact. But the original claim stays in the literature, and people find it later and try to label a patient with a totally different presentation because they found the same mutation. As far as I'm concerned, if you want to get your own genetic test results go ahead, but don't complain when different people give you different answers because there is no information on what the data means outside the context of disease. You can be absolutely certain though that there will always be many people happy to rob you blind by telling you that some "mutation" means that you are predisposed to a disease and that you now require expensive monitoring or "treatment" that they provide. I watch people do this all the time now with baloney test results. The more supefluous information you feed the system the more opportunities for graft that will create. That doesn't mean the government needs to regulate it, but you better beware what a half-trained charlatan who thinks they are an expert after a few courses tries to get you to do with your genetic information. Good luck.
I really don't see the problem with making genetic information available to the patient. Your sequenced genome would become part of your medical record like any other diagnostic test or condition. It should be under patient confidentiality. You have a right to know what's in your medical record, don't you? A patient will probably have a doctor or other specialist help interpret the meaning of any SNPs or irregularities in any case. Given that each person has a measurable variation in his or her actual genome vs. anyone else's--due to repeats, multiple gene copies, and transpositions as well as the SNP pattern--it's going to be difficult for an individual to scan the 3 billion base pairs in his own genome, match a particular sequence to some SNP variation discussed in an internet article, and reach a conclusion about his own susceptibility to a disease. But people look at a rash or a mole all the time, go online to self-diagnose, and freak out. Why should genetic knowledge be special and more protected?
By the way, I'm not sure about the quote from Chapel Hill at the start of the article. If you get your "whole genome" sequenced, then the output includes both the protein-coding genes--which they call the "exome"--and all the rest of the DNA that deals with expression of those genes as well as developmental control of all cell types going back to the embryo. It's all data. The bigger question is whether the sequence will include the epigenome: the pattern of accrued characteristics, like methylation, that controls expression over your lifetime.
This is basically a power grab by the self appointed experts for rent seeking. They would be in a monopoly position as gatekeepers, we would be totally dependent on them, and they could extract whatever fees they wish. I for one would probably consult with a medical expert when I get my DNA info, but if I am not REQUIRED to consult with them, I could ensure that their fees stay reasonable, and their services useful.
Dr. Evans makes a sorry case for the downside! How would discovering you're at risk for incurable dementia be a bug, not a feature? It would allow you to arrange your affairs, prepare your loved ones, communicate your preferences and provide the necessary legal decision making powers to an inevitable guardian -- while you're still competent to do so. On the flip side, how would arranging for qualified (i.e. licensed!) care providers to feed at the genetic trough be a feature, not a bug?
Dr. Evans apparently skirts the most fundamental question at issue here -- one in which the medical profession has a massive vested interest. Who controls the genetic data and cui bono?
What researcher or policy maker, whether academic, governmental or commercial, doesn't dream of a comprehensive, central database, made increasingly accessible by the federal drive for digital archiving? Even now, research findings which are clearly based on information collection over which individual "patients" have virtually no control, are legion. Who among our de facto gate keepers doesn't dream of monopolizing the mountain of data already being used to shape the future through grants of access and funding?
There's little point in pretending that the firewalls of privacy have not been thoroughly breached, but the argument against outright prohibitions on independent, consensual, testing is easy enough to make. When the general public is such an obvious beneficiary of monolithic database studies, however, the relative advantages of distributed, market-driven, privately held, data collection are not so clear cut. The argument that we can have our innovative cake and eat it too, through regulatory schemes of one kind or another, is likely to be far more persuasive. In the context of public trepidation over biological sci-fi nightmares made real (only exacerbated by growing skepticism about scientific ethics), the pressure for institutional controls is likely to overwhelm the case against them. Big Brother government may well look like a lesser evil, even to the otherwise politically and economically conservative.
Incidental observation: Whenever you see the word "nuanced" something stupid will follow.
When you have a big hammer... everything looks like a nail!
Why, do you suppose, people seek power over us?