Some are comparing the shake-up of business models in the genomics industry by DTC companies with the disruption of the music industry via P2P services like Napster, who radically changed how music was distributed. Seemingly overnight, the music industry felt they had been bamboozled and marginalized. Their role as the primary distributors, gatekeepers, and fee collectors of music had been challenged — and by a teenager! This made them very unhappy, to say the least.
Like Napster, the consumer genomics industry is a force of disintermediation. Access to personal genetic data no longer requires a trip to a clinic, or any face-to-face interactions with physicians or genetic counselors, as they have in the past. This makes the traditional medical genetics community very unhappy. Like the music industry, they do not want to be marginalized as distributors, gatekeepers, and fee collectors of genetic knowledge.
Some would argue that the analogy goes further: the ultimate fate of Napster will be the fate of consumer genomics companies. Napster was shut-down by court order, and later re-emerged with a more traditional model of distribution that re-inserted the intermediaries they famously had marginalized via P2P. Some believe its only a matter of time before consumer genomics companies are shut-down and are required to re-insert physicians and face-to-face counseling.
I disagree. The future of the consumer genomics industry is more likely to follow the path of insulin injections, than music. The reason is purely economic. To be sure, if diabetics needed insulin injections only once a year, rather than several times a day, physicians would still be in control of the syringe.
Insulin is both life-sustaining and life-threatening, depending on the dose. The risk that a diabetic patient might inadvertently kill themselves with the wrong dose of insulin is real. However, the fact that diabetics need injections on a regular basis, even several times a day for some, meant that doctors were out-of-the-picture. Self-injection of insulin by diabetics is so commonplace today, its easy to forget just how radical the practice of self-injection is, provided the dangers to the patient and the well-intended desire of the medical establishment to protect them.
We now accept the disintermediation of insulin injections without a second thought. Could it really be any other way? The same will be true of genomics. Although self-examination of biological data presents many risks to individuals, the expense of forcing people to go through gatekeepers and censoring data in the interest of protecting individuals from themselves will be too burdensome. An editorial in this month’s issue of Nature Biotechnology, sums this up nicely:
Faced with this huge expansion of data on ‘my’ health, it will simply not be affordable to maintain our dependence on medical gatekeepers, whether they are physicians or genetic counselors, without individuals taking a much greater responsibility for their own wellbeing. Whether the medical establishment likes it or not, it will be too cumbersome and too expensive to conduct personalized medicine if all diagnostic-to-therapeutic decisions depend on doctors…For personal genomics not to be stillborn, the medical community and regulators thus need to reevaluate their role as gatekeepers. Clearly, they need to be involved in the medical actions that might follow as a consequence of genetic or other diagnostic testing…But simply shutting down the whole direct-to-consumer gene testing enterprise because it departs from the traditional genetic testing paradigm of doctor ordered test will both retard progress and stifle investment in more advanced whole-genome sequencing technologies—technologies that have the potential to ultimately deliver the promise of genome-directed medicine.
Risks and responsibilities associated with self-management of genomic data will increasingly be transferred from physicians to individuals, as they were with insulin injections (and home pregnancy tests). The medical community and regulators will play incredibly important roles in genomics, but serving as gatekeepers to biological data is not one of them.
Editorial. “In need of counseling?” Nature Biotechnology. 26(7):716. July, 2008.
The PBS television station KQED in San Francisco recently aired a very thoughtful segment comparing online genomic counseling through DNA Direct to traditional face-to-face counseling via UCSF. Check it out:
KQED, Genetic Testing through the Web. Feb 20, 2007.
Full discolure: I am employed by DNA Direct.
Best sentence I read today:
"The doctor-patient relationship hinges on informed consent, but the FDA says only a doctor may do some of the informing."
Peter Huber is referring specifically to the informing that is done via diagnostic testing such as pregnancy testing, HIV testing, genetic testing, and innumerable other blood/urine/tissue testing. Diagnostic testing is a means of extracting and communicating information about personal biology. Diagnostics are informational devices.
Some believe there are forms of your personal biological information that you should NOT have access to, or at least access should be complicated to achieve. AND if you do manage to get access, this information should only be dispensed in a professional setting (i.e. a clinic). Huber’s thesis:
"Diagnostic technology is on a collision course with the FDA. A dipstick (or something much like one) is coming to diagnose just about anything: infectious disease, disease caused by your own cells gone haywire or the threat of disease caused by imperfect genes…If the FDA will allow it…"
Some diagnostic tests, like the pregnancy test, have successfully passed through the regulatory gauntlet, and have become, in limited circumstances, common fixtures of drug store shelves, internet commerce, and even home use.
While difficult to imagine, pregnancy testing was once only allowed through a physician. Today nearly one-third of all U.S. women have taken a home pregnancy test. In the early part of the 20th century, there were technological barriers to home pregnancy testing — diagnosing pregnancy involved injecting rabbits with a woman’s urine, i.e. the Rabbit Test. By the late 1970s, once the technology to diagnose pregnancy had been improved and simplified, a different kind of barrier arose: social barriers. As historian Sarah Leavitt has recently documented, Consumer Reports in 1978 was no fan of the home pregnancy test:
…the need for an early pregnancy test was seen as evidence of promiscuity. A state health official told the magazine: “there is no reason for a woman in Maryland to buy a kit such as the EPT unless she doesn’t want to be seen at the health department.” The suggestion that only immoral women with something to hide would need a home test kit led the magazine to conclude that “even if it is used correctly, the EPT appears to be a needless purchase” for its readers. The editors recommended that women visit their doctor or a clinic to get results instead—but women found ways around these strictures and increasingly demanded access to private, personal, informed, and nonjudgmental health care, of which the pregnancy test was a part.
Consumer Reports has since changed its tune of course. Twenty years after its original article, inuendos of the immoral nature of home testing had been dropped (they had follow-up articles in 1996 and 2003).
Caption: Did you know that David Lynch directed an
advertisement for the home preganancy test Clear Blue Easy?
Sarah Leavitt beautifully summarizes the impact of the home pregnancy test:
Women in this generation who take home pregnancy tests are able to know something about themselves and their futures in a time frame that was simply not possible for their grandmothers, or even their mothers. The kit modified the network of actors involved in diagnosing pregnancy, taking the event from the doctor’s office to the home. It has also modified the time frame of pregnancy by reconfiguring the original discovery. Its revolutionary status, therefore, is small but personal, removing the moment of pregnancy diagnosis from the institutional gaze of the doctor to the private gaze of the pregnant (or not-pregnant) woman herself. It is an example of the way in which the women’s health movement worked to recapture women’s control over much information related to pregnancy.
If Peter Huber’s thesis is correct, there is a similar need for "private little revolutions" in other aspects of health care, a need to recapture control over other forms of personal biological information.
Peter Huber. The Patient’s Right to Know. Forbes. 07.24.06
Sarah A. Leavitt "A Private Little Revolution": The Home Pregnancy Test in American Culture. Bulletin of the History of Medicine 80.2 (2006) 317-345. (sorry subscribers only)
CHECK OUT Sarah Leavitt’s exhibit: "A Thin Blue Line: A History of the Pregnancy Test Kit"
For more on DAT, see Bruce Friedman’s post and the links within.
The CEO of DNA Direct (full discolure…and my boss/friend/mentor) recently gave a talk at Stanford as part of the Entrepreneurial Thought Leaders (ETL) seminar series. In her presentation, she tells the story of her life as an entrepreneur and her experiences with founding and operating a number of ventures, most of them in the consumer health arena. Among them were Planetree & Direct Medical Knowledge (later acquired by WebMD). Check it out:
An article published in JAMA last week showed that coffee drinkers that are slow metabolizers of caffeine are at greater risk of heart attack. [Gulp] Caffeine is metaboized via an enzyme (CYP1A2) that lives in the liver. Genetic polymorphisms of this enzyme are common. Some people metabolize caffeine more quickly or slowly than others, related to which version of the CYP1A2 gene they have. [Gulp]
The slow metabolizer variant (CYP1A2*1F, nomenclature here) is quite common, at least in Costa Rica where the study was undertaken–54% of the population were carriers of *1F allele. [Gulp]
I’m currently drinking is
approximately the size
of a small dog.
Figure: The cup of coffee
Cornelis MC, El-Sohemy A, Kabagambe EK, Campos H. Coffee, CYP1A2 genotype, and risk of myocardial infarction. JAMA. 2006 Mar 8;295(10):1135-41.
University of Toronto Department of Nutritional Sciences
The San Francisco Chronicle has a very nice feature on my boss and friend, Ryan Phelan, in this Sunday’s paper. This issue discusses her history as a social entrepreneur and her newest venture, DNA Direct, where I am employed.
A thumbnail of the office where I work. See more pics here.
Katherine Seligman. The Social Entrepreneur. San Francisco Chronicle. Sunday January 8, 2006.
More and more do-it-yourself (DIY) medical tests are coming down the pike. This week A DIY home HIV test will be reviewed by the FDA’s Blood Products Advisory Committee, they are expected to give guidance on potential OTC status for the OraQuick Advance test on November 3. The manufacturer, Orasure Technology, currently sells the kits to clinics and doctors for less than $20 each.
This past week, scientists from the Morgagni-Pierantoni Hospital in Forli, Italy published a paper in JAMA demonstrating efficacy of a urine test for bladder cancer.
Maria Aurora Sanchini et al. "Relevance of Urine Telomerase in the Diagnosis of Bladder Cancer" JAMA Vol. 294 No. 16, October 26, 2005.
Bernard M. Branson, MD. "Home Sample Collection Tests for HIV Infection" JAMA. 1998; 280:1699-1701.
Last week a new electronic health record service, iHealthRecord, was launched by Medem Inc. and it is being made available to medical consumers for free. See a webcast of the launch, which includes a nice talk by Newt Gingrich towards the end (including a pitch for incorporating Medline driven information prescriptions into the service).
A recent article in the the Washington Post described the offerings of for-fee electronic health record providers that sell direct to consumer, including Laxor, FollowMe, WebMD, CapMed, and VitalVault.
The Genetics and Public Policy Center at John Hopkins has put together a panel discussion of direct to consumer (DTC) genetic testing to be held April 19, in Washington D.C.. They haven’t put up anything on their website yet, but here a description of the event from their email:
"One of the most immediate payoffs of sequencing the human genome is
the ability to use a growing number of genetic tests to diagnose an
existing condition or to test for one’s risk of disease. Currently,
more than 800 clinical tests are available for conditions such as
hereditary breast cancer, Parkinson disease, Huntington disease,
Tay-Sachs disease and cystic fibrosis. Until relatively recently, one
could only be tested by going to the doctor.
But now, some genetic testing companies are beginning to sell
these tests directly to consumers, eliminating the need to go to a
doctor’s office. Test results are made available online, in the privacy
of one’s own home. One company sells an at-home genetic test for the
genetic predisposition to addiction; another company sells at-home
genetic tests for infertility. Will at-home infertility tests provide
useful genetic information in a private, non-threatening way? Or will
these tests take advantage of people desperately seeking answers to
Gene test companies and some consumer groups hope to empower
individuals by providing direct access to genetic information. Other
consumer advocates worry that people may waste their money on tests
that have not yet been proven reliable or accurate. Health advocates
are concerned that consumers may make poor health decisions based on
test results and without benefit of genetic counseling or other medical
To explore the commercial, legal, medical and ethical issues raised by
direct-to-consumer marketing of genetic tests, the Genetics &
Public Policy Center at Johns Hopkins University will convene a public
meeting to hear from industry spokespersons, ethicists, physicians and
The panelist are:
- R. Alta Charo, J.D.
Elizabeth S. Wilson - Bascom Professor of Law and Bioethics;
Associate Dean for Research and Faculty Development
University of Wisconsin Law School, Madison, WI
- Gail H. Javitt, J.D., M.P.H.
Genetics & Public Policy Center,
Berman Bioethics Institute, Johns Hopkins University
- Pamela Madsen
Executive Director and Founder
American Fertility Association, New York, NY
- Michael T. Mennuti, M.D.
Professor and Chair, Obstetrics and Gynecology
University of Pennsylvania Medical Center, Philadelphia, PA
- Ryan Phelan
Founder and CEO
DNA Direct, San Francisco, CA
- Richard T. Scott, Jr., M.D.
Reproductive Medicine Associates of New Jersey
- Andrew Zolli
Futurist and Founder
Z+ Partners, Brooklyn, NY
In early November, I blogged the launch of DNA Direct , a direct-to-consumer provider of genetic tests. On Monday, NPR’s Marketplace ran a segment on the company. The futurist Andrew Zolli (who blogs here) tried one of the products, the genetic test for thrombophilia, and filed a report on his findings. Listen to the Marketplace report here.