Parallel Dataverses: Doppelgangers in Medicine and Recreation

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.

(3) Autonomy of individuals is being restricted unjustly.

(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?

July 11, 2008 | Filed Under dat, genomic-data, policy | 17 Comments 

Disintermediation: Why Genomics is More Like Insulin Injections than Napster

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.

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Editorial. “In need of counseling?” Nature Biotechnology. 26(7):716. July, 2008.

July 9, 2008 | Filed Under direct-to-consumerdtc, policy | 12 Comments 

Biocensorship for the Biocentury?

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.

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See also, posts by Rob Carlson, Daniel MacArthur.

July 8, 2008 | Filed Under legislation, policy | 11 Comments 

Free Personal Genome Activism goes International

Today GTO pointed to a new website advocating the $0 Genome Project. A WhoIs look-up shows the administrative contact for the various websites associated with this project to be the Korean Bioinformation Center (KOBIC).

The last major bid for a free genome project was made from California in September of 2004 under the banner of the CUVIGS Initiative, or Californians for Universal Voluntary Individual Genome Sequencing.

Without surprise, CUVIGS supporters looked to George Church for feedback (interview still available here). Snip from their news release:

Professor Church believes that the emergence of Californians for Universal Voluntary Individual Genomic Sequencing, which is trying to place an initiative on the California ballot that would provide public funding to increase the availability and lower the unit cost of doing individual genomic sequencing, “sounds like a wonderful initiative, very visionary of California to think of such a thing….If the people spoke out like that, it would be a historic moment.” He added that “it needs to be phased in carefully with lots of oversight.” He also supported competition between Massachusetts and California to see who could pass such an initiative first.

Now, it seems, we can add South Korea to the competition for free personal genomes.

If they were to exist, “free genomes” would be more equivalent to “free kittens” than “free beer” in terms of the responsibility needed. Free beer requires very little commitment, there are virtually no instructions for its proper use and it can just be poured down the sink if it is doesn’t meet expectations. George’s recommendation for careful oversight of any such project, would be essential.

January 14, 2008 | Filed Under international, policy | Leave a Comment 

Compelled Disclosure, Richard Nixon and your genetic information

In addition to the three general modes of sharing genetic information I described yesterday, there is another type of disclosure individuals considering personal genome sequencing should be aware of: compelled disclosure by subpoena.

For genetic sequence data to be useful, it will need to be shared with individuals, companies, or organizations. These individuals might take extraordinary care to maintain the confidentiality of this information and to be good data stewards. But, they might receive a subpoena that requests confidential records to be made available for a court proceeding. For individuals who are concerned about the confidentiality of their genetic information, compelled disclosure by subpoena should be considered a risk.

The good news is that subpoenas of medical research data about individuals who were promised confidentiality is uncommon. There are a few famous cases, one involved lawyers hired by tobacco companies to go looking for data about asbestos raising the chances of lung cancer in smokers. A subpoena allowed them to gain access to the confidential files of a Dr. Irving Selikoff, although the files were redacted to protect identities of research participants prior to (compelled) disclosure (a few details here).

Don’t get Dicked Richard’ed
So, what does Richard Nixon have to do with compelled disclosure? Interesting trivia mainly. The Supreme Court case United States vs. Nixon is typically cited by the courts as the precedent for supporting compelled disclosure by subpoena.

Endote: Boo Hoo
Incidentally, there is a very nice article in the New England Journal of Medicine about scientific researchers who get subpoenaed. The article is not open access, unfortunately, so you probably can’t read it without paying $10.

It has been at least a few months since my last mention of frustration about the lack of access to quality information for Joe Schmoes, like myself.

I get frustrated most when articles deal with issues that are of direct relevance to the general public and they are not accessible, like the article about subpoenas above. Clearly, this article should be of interest to researchers. But what about research participants? It is, after all, their data that is potentially at risk. Research participants should not be treated like cows and keeping them outside the tent of good scholarly work on matters such as this does just that. I say this with the utmost sincerity, I’m not a dogmatic jerk in real life.

My favorite example in the last few years was an article published in Science with a title that included language about the “need for public dialogue“. If you click on the link, you’ll see that the article is trapped behind a firewall. For public dialogue to occur, the public needs access to the article. No?

One of the things I look forward to the most over the next 10 years or so, and one of the reasons I’m so happy to be a part of the Personal Genome Project with its open-access and open source ethos, is increased public access to science and the scientists who produce it. Support open access.
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This month I am doing an extended meditation about the risks of obtaining and sharing personal genome sequences. This exercise will be cathartic for me. Beyond that, I hope it may help to reorient the conversation about risks into something that one day might resemble practical guidance for individuals considering obtaining and sharing personal genetic information.

December 13, 2007 | Filed Under policy | 1 Comment 

Expectation setting about the risks of obtaining and sharing genetic information

Imagine being given the job of writing a manual that describes the risks associated with driving. All new drivers will be required to read this manual before they get behind the wheel.

The publisher wants a manual that is both comprehensive and concise. So, great care will need to be taken about the number of words dedicated to each risk. Spend too much time writing about flat tires, potentially more significant risks may get glossed over.

By the way, the year is 1908 and the Model-T is just beginning to roll off the assembly lines. Few people in the world actually own their own vehicles, but expectations are that many people will want to learn to drive even if its only recreational. They may even own vehicles themselves one day (heck, there might even be a system of interconnecting roads one day).


Model T

 

Foreseeing the potential mass appeal of vehicular transport, the publisher has requested that the manual take into account not only risks that exist today, but treatment should also be given to potential future risks that may arise.

The value of this manual will depend on how well the author is able to match the content with the driving situations readers are likely to face. Are they driving in the mountains of Coroico or in conditions similar to those I’m facing here in Boston, which look something like this:

dangerous roads
(Photo by Shuck)

 

The value of the manual will also depend on the drivers themselves: their experiences, their level of knowledge, their particular type of vehicle, and their expected behavior on the road. Are they risk-takers?

risky drivers
(photo by zerega)

 

Risks may even depend on an individual’s belief system:

amish drivers
(photo by cindy47452)

 

Setting reasonable expectations about risk
What is obvious to us now is that any manual produced in 1908 about the risks of driving very likely would be completely irrelevant today, except for those of us who find historical minutiae to be of great entertainment value.

Do you think this manual would have included “road rage” or the dangers of text messaging while driving? (BTW, in 1908, the Western Electric number 317 magneto wall phone did not even have an interface for dialing numbers, let alone text…calls required a voice-based interaction with an operator)

So, any manual developed today about the risks of obtaining and sharing a genome sequence will have a limited shelf-life. A few risks may come to be recognized more or less as “eternal truths” that go hand-in-hand with genome sequencing, while others are destined to become historical artifacts.

To get started with this meditation about risks, I’m going to state the obvious. Talking about the risks of obtaining and sharing genetic information is difficult to do in absolute terms for at least three reasons:

1) Risks are contextual
2) Risk-taking preferences vary widely
3) Many risks are poorly understood or are non-obvious

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This month I am doing an extended meditation about the risks of obtaining and sharing personal genome sequences. This exercise will be cathartic for me. Beyond that, I hope it may help to reorient the conversation about risks into something that one day might resemble practical guidance for individuals considering obtaining and sharing personal genetic information.

December 10, 2007 | Filed Under policy | 3 Comments 

Risks of obtaining and sharing your genome sequence

The era of personal genomics will transform our notions of risk in many ways. In the realm of health and medicine, we will soon have much more specific information about our baseline risk for a health outcome, such as a disease or a pharmaceutical drug response, and how it is influenced by our DNA and modulated by other factors like physiology, lifestyle, and environment. At some point, we will have health risk profiles that prioritize and sort risks according to severity, immediacy, and whether effective strategies are available for managing them with pharmaceuticals, lifestyle modifications, or other medical interventions. There might even be a richter scale for genomics one day. This vision of the future is often referred to as “personalized medicine”.

Genome sequences are an important source of fuel for powering the engine of translational medicine and driving the transformation of how we understand and manage health risks. But before anyone can step on the accelerator toward personalized medicine, people need to be willing to actually obtain and share personal genome sequences. Without this willingness, personalized medicine faces an energy crisis – a shortage of genomic fuel – and may putter or stall. Where will this willingness come from?

Roadmap to Willingness
Unlike personalized medicine, which has a coterie of visionaries and an abundance of roadmaps, each with their own devotees, no “roadmap to willingness” exists as far as I can tell. So, how do we build one? What are the ingredients of a roadmap?

The same three ingredients are needed to get nearly any enterprise off the ground, as I heard recently in a wonderful talk by Doug Solomon of IDEO (here). They are feasibility, desirability, and viability. And you really need all three, having just one or two doesn’t cut it.

To get to willingness, personal genomics needs to be cheap (feasible), useful (desirable), and safe (viable). As far as I’m concerned, two out of three ingredients are in the bag. There are tremendously productive forces working to make genomes both cheap and useful. While personal genomics may not be fantastically cheap or fantastically useful at this moment, we’re on a clear path to get there (and quickly).

Google Chart API Venn diagram of the three ingredients for making personal genomics a smashing success
 

The ingredient that could use some serious inspiration is safety. After all, what should be sought is not a “roadmap to willingness” that is just blinky lights and siren songs, but a “roadmap for informed willingness” that includes well-marked signs, off-ramps, and rest areas (for slow drivers with small bladders).

Where the rubber meets the road
Some influential policy-wonks are still spending their energy questioning whether or not we *should* as a society be pursuing personal genomics at all. Then there are those who have gotten past that and take for granted, as they should, that large numbers of people will desire and seek personal genome sequencing. Yet, I still have the overwhelming sense that we are very much stuck in a stage of facile hand-wringing about the implications of obtaining and sharing personal genome sequences and that these activities tend to be more oriented toward sending people into some sort of existential apoplexy than they are a potential source of pragmatic guidance.

We are at the point in history where the rubber is about to meet the road for personal genome sequencing. So, I would like to advocate that we spend more time rounding out this roadmap. We should begin with a meditation about risk and consider the calculus an individual would need in order to weigh the tradeoffs between taking the personal genomics plunge right now or standing on the sidelines for another day.

The month of December I plan to focus my blogging efforts, nearing one blog post per day (assuming I’m not paralyzed by some existential crisis, fingers crossed), on my thoughts about the risks of obtaining and sharing personal genetic information. I hope you’ll join me.

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P.S. The Venn diagram above was created on the fly via the recently released Google Chart API — an incredibly easy-to-use way to add graphic bling to any blog. Here is the coded URL, in case you want to play with the Venn Diagram on your own.

December 6, 2007 | Filed Under policy | 15 Comments 

Best Sentence I Read Today on “Onlineness”

“Controlling your life online isn’t about a set of guidelines for everyone to follow. It’s about being aware of where you might be giving up control and making conscious decisions.”

This is taken from an excellent meditation by Vanessa Fox on living life online (she tagged the post “onlineness” which I had to look at a couple times to find the root word).

One topic she touched on briefly is how a person’s online activity can reach beyond the individual and touch the lives of others. What is acceptable practice in these circumstances? People disagree. Here is a clip:

Read more

August 21, 2007 | Filed Under electronic-health-records, family-history, genomic-data, policy, privacy | 2 Comments 

Video Round-up: Esther Dyson on Charlie Rose, Spencer Wells on Colbert, and important video I can’t show you on genetic discrimination

Esther Dyson was interviewed on the Charlie Rose Show this past week. Charlie Rose ends the show by saying to Esther, “I can’t wait to see your genome”. I think this is the first time I’ve ever witnessed this expression being used like this — said with such endearment too! — but I’m sure it won’t be the last. (A google search for this phrase shows zero results at the time this post was written.)

The first twenty minutes of the show are mostly about Esther’s involvement in the Personal Genome Project (PGP) [disclosure: I work for the PGP]. The discussion doesn’t stop at genomes or health; the rest of the show ventures into the future of commercial space travel, the internet, cookie monsters, personalized search, AI and more. Esther never ceases to inform and inspire me, and challenge the way I think. I’m so glad she is among the folks that will be pioneering personal genomics for the rest of us via the PGP. Check it out:

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August 19, 2007 | Filed Under ancestry, education, future-healthcare, future-scitech, genetic-testing, legislation, open-access, policy, video | 7 Comments 

Slelling, Genetic Avatars, and Mail Order Chewing Gum Impregnated with your DNA

In David Zindell’s space opera Neverness, the term “slel” is introduced to describe the misappropriation of someone else’s DNA. In a review of Zindell’s book, Orson Scott Card gives us the following definition:

Slel: To take DNA from someone against his will, to create avatars of him, or perhaps children.

Last week Hsien documented the recent efforts of UK police to make slelling a standard practice.

I’ve got two riffs on slelling for you: (1) genetic avatars and (2) DNA bubble gum.

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August 5, 2007 | Filed Under biobanking, biohistory, forensic, future-scitech, policy | 1 Comment 

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