March 16, 2011
Medical Info Overload And Direct To Consumer Genetic Testing

Razib Khan points out that the flood of genetic and medical data has reached the point where individual medical practitioners can't grasp the whole big picture.

And yet something else looming in the background right now is the way medicine is practiced in the world today is changing, and has to change. I accept the proposition that from Galen to the 20th century medical doctors generally caused more harm than benefit (much of it due to the fact that they spread disease amongst their patients). Modern medicine is exceptional in that it actually works on a biophysical level. But a lot of the “low hanging fruit” has been picked, and due to the nature of medical research much of the “cutting edge consensus” is wrong. Medicine, like many fields, has been subject to information overload, and I’m skeptical of the ability of any human to keep up. The practice of medicine needs to be augmented by computational analytic tools, as well as a deeper understanding of the natural distortions which occur because of the nature of funding and the institutional framework of biomedical research in the United States, which exhibits an unfortunate trend toward careerism. Add on top of it the political, legal, and ethical variables, and medicine is a tangle which is far more than just applied human biology.

Those computational tools ought to allow us to directly receive biological information about ourselves from sophisticated software in cloud servers. Since computers will be needed to make sense of the flood of data why go to a doctor's office to have a doctor interpret what the computer screen says when you can read it yourself?

In another post Razib draws attention to websites that enable people to engage in Do It Yourself (DIY) biological science. It is just this sort of (rapidly growing) way of doing bottom-up genetics and health research that FDA regulation threatens.

In light of my last post, I want to point to some groups attempting to create some “bottom-up” biological science in the real world. In the Los Angeles area you have SoCal DIY Bio, and in northern California you have BioCurious. And you also have the DIYgenomics website. Apparently the Gene Sequencer for the SoCal DIY Bio needs to be repaired, so I thought I’d pass word on.

Imagine a future in which people use home medical testing devices and online genetic and medical testing services to collect information that they use to enroll themselves as long term research projects. Plummeting costs of full genome sequencing and advances in microfluidics promise to make genetic and other biological testing very cheap and widely available - if only regulators stay out of the way. But the threat of a large scaling up of regulatory restrictions on direct-to-consumer (DTC) genetic testing and medical testing could put the kibosh on all that.

I see the issue of DTC genetic testing as important for a few main reasons:

  • The freedom to know yourself. Know your genetic ancestry, disease risks, and details about your body's genetically-driven design.
  • The potential to save money by cutting out the professional highly credentialed gatekeepers. Medical tests have become unaffordable to many.
  • The potential for bottom-up crowd sourcing medical research. This will be a form of democratization of science.

The bottom-up research holds great potential. The genetic testing company 23andme is already conducting 400 genetics research projects using customer genetic testing data. Imagine a world where many different teams (including people who are amateurs in genetics research) develop software to search for genetic correlations with diseases, behavior, or assorted traits and then the teams ask for volunteers. This effectively democratizes research. The research that advances most quickly is the research that the most people decide to help with genetic and medical testing results and by filling out web forms about their histories, preferences, habits, and abilities.

In the future a large chunk of medical research will get done by millions of people who will pay their own money to get themselves and friends and family tested. They'll pay this money in order to provide to scientists the raw test results needed to do analyses. People with a malady will pay for genetic and other testing that will provide researchers with the data that will otherwise to be too expensive to collect.

Share |      Randall Parker, 2011 March 16 12:30 AM  Policy Medical

JP Straley said at March 16, 2011 8:31 AM:

I've written my congress-creatures on this. I'm for freedom of genetic information to possessors of a living human body, namely the one they inhabit and fully own. I do favor some gate-keeping for those that provide actual care, doctors & other medical practitioners.

But I don't favor giving anyone control over direct information about my body. I should be able to deliver my cells or tissue samples to anyone I please and receive information about same.

DNA information technology is remarkably portable, and people can easily ship samples of themselves to some cooperative Caribbean nation where an entrepreneur has set up a lab. For that matter, the same entrepreneur could just as easily set up his lab on a ship, travel out to sea beyond borders, and process the DNA.

I support an effort to standardize the information, provide a medical informatics format, so that once you have the raw data it can be provided to interpreters or practitioners in a standard form.

PacRim Jim said at March 16, 2011 11:03 AM:

Solution: Diagnosis by AI
Eventual solution: Diagnosis by strong AI
Final solution: Disease avoidance based on lifelong advice from continually improved strong AI.

Haiku Guy said at March 17, 2011 11:12 AM:

Now where did I hear
"Keep your hands off my body"?
I belong to me.

RFD said at March 17, 2011 11:53 AM:

As long as doctors have a monopoly on access to medicines, getting more access to our own medical information won't have much effect. Once pharmaceutical-producing crops are developed, a few seeds are bound to escape their corporate overlords. Once both diagnosis and treatment are available to all, things will be different. Not necessarily better, if we assume that self-diagnosis (using lab-on-chip technology, AI, etc.) will be somewhat less accurate than what a trained MD could do (using lab-on-chip technology, AI, etc.), but different.

Georg Felis said at March 17, 2011 1:01 PM:

The only thing Congress is doing is putting a stake thru the heart of US companies who would like to do DTC genetic testing. Non-US companies will happily come in and take our money, and provide unregulated reports to US consumers. (some of which may even be accurate)

Mel said at March 17, 2011 4:13 PM:

When giving blood through the Red Cross a decade or so ago, one had to contribute an extra tube to the "genome project". No choice. That always made me uncomfortable, as for eons to come my progeny could be traced (or framed, if paranoid) with this privately owned material. I should at least have the right to know my own genetic makeup.

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