Personal genomics and disruption
The November 10, 2008 issue of Time hailed “The Retail DNA Test” as the Invention of the Year. 23andMe, which was profiled as part of the article, offers a $399 saliva test* that features a number of disruptive characteristics. The test is marketed directly to consumers and performed via mail order – eliminating the need to pass through traditional venues of testing and care. Customers pay for the tests out of pocket, so the business model is built to survive without third-party payers. And free from the price-fixing influence of reimbursement, the prices of these tests continue to fall rapidly.
There are two main concerns normally raised about the business of personal genomics. The first is that the results are often not meaningful enough to permit well-informed health care decisions, and they can be misunderstood if not interpreted properly. Not surprisingly, these complaints are often raised by the medical community. And while it may be true that the tests aren’t yet good enough to test for everything, they’re certainly getting better, little by little. With a technological challenge this advanced, given the complexity of multiple genetic polymorphisms and incomplete scientific understanding, these tests had to cut their teeth first in applications in forensic science and genealogy. Even now, these tests are meant to serve more as guides rather than true diagnostics. However, with 600,000 genetic markers already being screened combined with a growing database of customer phenotypes, companies like 23andMe are quickly moving up-market.
The second fear regarding personal genomics has to do with privacy and how the data could be misused. This is, without a doubt, a valid concern. However, it’s important to note that it is not a problem that is unique to this particular business. Privacy in health care is constantly at risk, given the amount of sensitive information that could be abused when placed in the wrong hands. The advent of personal genomics did not create the need for privacy protections; it only adds to the importance that they exist. And it would be a true shame if we allowed privacy concerns to squelch such a promising new frontier in patient-focused health care.
*Last year’s Invention of the Year, Apple’s iPhone, had an initial price of $599, not including the cost of a service plan.
There are two main concerns normally raised about the business of personal genomics. The first is that the results are often not meaningful enough to permit well-informed health care decisions, and they can be misunderstood if not interpreted properly. Not surprisingly, these complaints are often raised by the medical community. And while it may be true that the tests aren’t yet good enough to test for everything, they’re certainly getting better, little by little. With a technological challenge this advanced, given the complexity of multiple genetic polymorphisms and incomplete scientific understanding, these tests had to cut their teeth first in applications in forensic science and genealogy. Even now, these tests are meant to serve more as guides rather than true diagnostics. However, with 600,000 genetic markers already being screened combined with a growing database of customer phenotypes, companies like 23andMe are quickly moving up-market.
The second fear regarding personal genomics has to do with privacy and how the data could be misused. This is, without a doubt, a valid concern. However, it’s important to note that it is not a problem that is unique to this particular business. Privacy in health care is constantly at risk, given the amount of sensitive information that could be abused when placed in the wrong hands. The advent of personal genomics did not create the need for privacy protections; it only adds to the importance that they exist. And it would be a true shame if we allowed privacy concerns to squelch such a promising new frontier in patient-focused health care.
*Last year’s Invention of the Year, Apple’s iPhone, had an initial price of $599, not including the cost of a service plan.
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Comment
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Comment by Julio Bonis on January 6, 2009 at 8:58am -
Jason,
I agree with you at the point that moving from epidemiological evidences to personal health care decisions is a difficult step that is currently so much simplified in our clinical practice.
And I could agree with you that genomic knowledge could bring more precision to the decision making process (but will be economically feasible?). However it is much more complex (take into account epigenetics, and that health does not depends on genetic factor as far as on environmental ones as Lalonde report stated in the 70's)
However, boosting general genomic screening (it means for example sequencing thousands of SNPs without a clear objective) will not providing precision nor information.
At the current state of our scientific knowledge about genomic causes of health, a general genomic screening (as provided by those new retail genomics companies) does not offer more information, but more "noise" potentially leading to worse health-care decisions.
We as health care providers have a ethical imperative to provide to our patients those technologies or procedures that will benefit their health. At this moment, reatils genomics is not the case, and so we should advise our patients, in order to protect them from pure commercial interests.
In Spain we have a saying: "curiosity killed the cat". Just because a patient is curious about how is his colon I would not recommend him to perform a colonoscopy. That is because we understand that the procedure has its risks. Genomic screening has its own risks also.
Retail genomics is nowadays not scientific founded, not evidence based medicine, and most importantly, could be dangerous for health and reduce quality of life.
So please, don't feed the hype!
:-)
PD: Now I am a family physician but I worked as a scientist on bioinformatics applied to pharmacogenomics. I know the potential of that technologies and or course its pitfalls.
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Comment by Jason Hwang on January 5, 2009 at 8:47am -
Prevention, even more so than treatment, sits primarily in the realm of what we defined in the book as empirical medicine. We make population-wide recommendations simply because, on average, we have found benefits to a proportion of people -- sometimes only a very small number. I think this is why a lot of people tend to argue against the supposed value of preventive efforts. However, we go on to suggest in the book that medical science will gradually, but inevitably, move toward greater precision. I think that is when you'll see the absolute benefits to prevention. For example, how would the cost and efficacy of preventive care in chronic viral hepatitis patients be effected if we had a genetic test that predicted which particular patients would progress to cirrhosis and end-stage liver disease? Or a test that informed patients that their smoking would almost assuredly lead to lung cancer? Or a test that informed obese patients that they would in all likelihood develop diabetes? These studies are of course being done, but we must start with tests that are less sophisticated than we might hope for. As with most disruptive innovations, arguing against their existence simply because they aren't definitively predictive today would deny a lot of positive impact for the future.
As for companies like 23andMe, I think they will first have to serve a select community of well individuals who have a sick relative OR who are simply curious, AND who have the money to spend. I think I've made clear my thoughts about where they will go in the marketplace from there. Whether we health care providers remain involved is up to us.
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Comment by Julio Bonis on January 5, 2009 at 5:12am
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Be careful with the new retail-genomics hype. More prevention doesn't mean more health. And that is specially true with genomic screening (we don't really have any evidence of health benefits from that).
An interesting lecture about preventive medicine was published in The Lancet recently:
http://saludcomunitaria.files.wordpress.com/2008/12/prevention-lancet-2008-publ2.pdf
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