This month’s issue of Wired Magazine has a nice article about George Church and his Personal Genome Project. Check it out:
Thomas Goetz, “The Gene Collector” Wired Magazine, August 2008.
Laboratory science is filled with dull, repetitive tasks. Casting gels, pipetting, streaking plates, and on and on. Did you know adult C. elegan worms have 969 cells? Well they do. We know that because a number of graduate students
were locked locked themselves into a room and painstakingly counted, and re-counted all those cells.
It should come as no surprise that laboratories have been compared to penal colonies. Glorified work camps for the technically adept! The root word of laboratory is “labor” after all.
Does the practice of science really need to be this way? Could science and laboratory work be more playful? In Shapiro’s 1991 book, The Human Blueprint, George Church wonders whether the lab could be turned into something more akin to a video game arcade:
“In counter to Sydney Brenner’s comparison of a sequencing laboratory to a penal colony, George Church has offered an analogy to a video game arcade, a place where a basically repetitive operation is so enjoyable that the participants work voluntarily for hours on end and even pay for the privilege. ”
Comparisons of science careers to video games are much more fun than comparisons to labor camps or penal colonies. The quote from George above challenges us to think beyond metaphors. How might the laboratory environment itself be transformed into something more playful, fun, and engaging?
Robert Shapiro, The Human Blueprint. St. Martin’s Press, 1991. [quote from page 252]
Dr. Egon Spengler: There’s something very important I forgot to tell you.
Dr. Peter Venkman: What?
Dr. Egon Spengler: Don’t cross the streams.
Dr. Peter Venkman: Why?
Dr. Egon Spengler: It would be bad.
Some regulatory regimes in the United States, like those in the state of New York, require laboratories that receive and analyze any tissue specimen for any purpose to adhere to standards of clinical medicine. The laboratories are, for example, required to follow quality measures defined by the Clinical Laboratory Improvement Amendments (CLIA). Furthermore, individual citizens are prohibited from ordering laboratory services directly. They must, instead, work through a state-appointed and licensed physician if they seek to obtain personal biological data.
This restriction does not depend on the intended use of the data. An individual who wants to have the DNA in their saliva analyzed for recreational purposes, like genealogy or ancestry or education, still must work through a physician.
This has resulted in the paradoxical situation of non-clinical, clinical genetic testing. “Don’t cross the streams,” Dr. Egon Spengler would say. Well, the streams are already crossed and its time, I think, to uncross them. Biological data for non-medical purposes needs a paradigm distinct from the medical domain.
Here are a few reasons why this proposal should be strongly considered:
(1) Physicians are overburdened as it is, there is no need from them to be involved in recreational activities like genetic genealogy.
(2) Ditto for governmental regulatory bodies that are charged with ensuring the quality and safety of medical products and practices.
(4) Enforcing clinical standards on non-clinical activities puts an unfair burden on individuals who may want to specifically avoid clinical implications of genetic sequence data, which might include the discovery of a medically relevant genotype (e.g., male infertility and genealogy testing) and health insurance liabilities.
So, what do you think? Should uncrossing the streams be an initiative we support? What are other reasons why this may or may not be a good idea?
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 freedom to explore one’s own biology, all the way down to the molecular level, should be among the freedoms we hold dear as individuals. I’m agitated that the censorship of personal biological data is being advocated as a reasonable course of action to reign-in the nascent consumer genomics industry. Self-examination should not require permission from any authority. We should protect the autonomy and integrity of individuals.
For most of human history, the ability of an individual to learn about their own body through self-examination was limited to little more than the five senses: sight, touch, hearing, taste, and smell. Modern technological advances have extended these natural abilities dramatically. Devices allow us now to see details about ourselves that were once low resolution, out-of-sight, or even unimaginable. Keychain widgets can dispense data on blood-alcohol levels. Joggers can monitor fluctuations in heart rate plotted against GPS-gathered data about their path, elevation, and pace. Diabetics can obtain instant glucose readings. Video games can track longitudinal BMI scores. Alarm clocks can monitor REM cycles and promise to wake their owners at a time when they are the most well-rested, the least sluggish, and still able to be on-time for the morning appointment.
The ability of individuals to obtain vast quantities of data about their own biology and environments is a new frontier. Most people are hardly aware the frontier exists at all. Only a handful of explorers have set-off into the deep data wilderness. Individuals who have access to biological data about themselves face certain risks. For example, the data might be cause for confusion or lead to actions that are regrettable. These risks are not unique to biological data. All data have the potential to be dangerous to those who choose to consume it. Restricting access to personal biological data under the premise that “data are dangerous” and people need blanket protection from misunderstandings they may encounter is tantamount to censorship.
The only reason more people are not outraged about this new species of censorship — biocensorship — is because the ability of individuals to obtain vast quantities of cheap data about personal biology and their environments is a new phenomenon. The introduction now of gatekeepers to “protect you” from your personal biological data would go largely unnoticed, at least for a few more years. Regulatory oversight of personalized medicine ain’t all bad. But, we should be careful not to hamstring the biocentury with biocensorship and be sure to protect the freedoms of individuals to examine their molecular selves.