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[Or, The ethical implications of SQL.]Our paper on the genetic causes of bipolar disorder finally came out last week.
has repeatedly said things like ‘we really couldn’t have done it withoutyou,’ though, to tell ya the truth, I have only a limited grasp of the paper’s results, andhave been unable to read it through, due to my lack of background in the world ofgenetics and biology in general. Fortunately, there have been press releases and a fewarticles to explain my paper to me.
The figure explains how this is all possible. It is what a genetics lab looks like.
That’s a work bench, like the ones upon which thousands of pipettes have squirtedmillions of liters of fluid in the past. But you can see that it is now taken up by a bigblue box, which hooks up to a PC. Some of these big boxes use a parallel port (like anold printer) and some run via USB (like your or The researcherputs processed genetic material in on the side facing you in the photo, onto a tray thatwas clearly a CD-ROM drive in a past life. Then the internal LASER scans the materialand outputs about half a million genetic markers to a plain text file on the PC.
I know I’m not the first to point this out, but the study of human health is increas-
ingly a data processing problem. My complete ignorance regarding all things biolog-ical wasn’t an issue, as long as I knew how to read a text file into a database and runstatistical tests therefrom.
We are in the midst of a jump in how research
is done. Historically, the problem has been to find enough data to say something. Oneguy had to sail to the Galapagos Islands, others used to wait for somebody to die sothey could do dissections, and endless clinical researchers today post ads on bulletinboards offering a few bucks if you’ll swallow the blue pill.
But now we have exactly the opposite problem: I’ve got 18 million data points, and
the research consists of paring that down to one confident statement. In a decade or so,we went from grasping at straws to having a haystack to sift through.
As I understand it, the technology is not quite there yet. There’s a specific protocol
for drawing blood that every nurse practitioner knows by heart, and another protocolfor breaking that blood down to every little subpart. We have protocols for gather-ing genetic data, but don’t yet have reliable and standardized schemes for extractinginformation from it.
When we do have such a protocol—and it’s plausible that we soon will—that’s
Figure 1: The tools of the data processing field known as Biology
If you remember as much high school biology as I do,
then you know that a gene is translated in human cells into a set of proteins that thengo off and do some specific something (sometimes several specific somethings).
So if you know that a certain gene is linked to a certain disorder, then you know
that there is an entire pathway linked to that disorder, and you now have several pointswhere you could potentially break the chain. [Or at least, that’s how it’d work in theory. Again,there’s no set protocol.] There are many ways to discover the mechanism of a disorder, butthe genetic root is the big fat hint that can make it all come together right quick.
Then the drug companies go off and develop a chemical that breaks that chain, and
perhaps make a few million per year in the process.
Implication three: Free will versus determinism
search for genetic causes thought it was all a conspiracy. If there’s a genetic cause formental illness, then that means that it’s not the sufferer’s fault or responsibility. Insteadof striving to improve themselves, they should just take a drug. And so, these geneticstudies are elaborate drug-company advertising.
From my casual experience talking to folks about it, I find that this sort of attitude is
especially common regarding psychological disorders. See, every organ in the humanbody is susceptible to misfiring and defects—except the brain, which is created in theimage of ’’, and is always perfect.
Annoyed sarcasm aside, psychological disorders are hard to diagnose, and there’s
a history of truly appalling abuse, such as lobotomies for ill behavior, giving womenhysterectomies to cure their hysteria, the sort of stories that made One Flew over theCuckoo’s Nest plausible, &c. Further, there are often people who have no physiologicaldefect in their brains, but still suffer depression or other mood disorders. They get somesun, do some yoga, and everything works out for them.
But none of that means that the brain can not have defects, and that those defects
The problem is that our ability to diagnose is falling behind our ability to cure. We
know that certain depressives respond positively to lithium carbonate, Prozac, Lexapro,Wellbutrin, Ritalin, Synthroid, and I don’t know today’s chemical of the month. Butwe still don’t have a system to determine which are the need-of-drugs depressives andwhich are the get-some-sun depressives.
Or to give a physical example, we don’t know which obese individuals have prob-
lems because of genetic barriers and which just need to eat less and exercise. It’s onlyharder because, like the brain, the metabolism is an adaptive system that can be con-ditioned for the better or for the worse, confounding diagnosis. Frequently, it’s bothbehavior and genetics, albeit sometimes 90% behavior and sometimes 90% genes.
A genetic cause provides genetic tests. If we have a drug based on a genetic path-
way, as opposed to a drug like Prozac that just seemed to perk people up, we can lookfor the presence or absence of that genetic configuration in a given individual. Thisain’t a silver bullet that will sort people perfectly (if that’s possible at all), but having apartial test corresponding to each treatment is already well beyond the DSM checklistswe’re stuck with now.
We can test for genetics not only among adults and
children, but even fetuses. On one small survey, five out of 76 British ethics commit-tee members (6.6%) “thought that screening for red hair and freckles (with a view totermination) was acceptable.
Fœtal gene screens to determine Down syndrome or other life-changing conditions
are common, and 92% of fetuses that return positive for the test for Down Syndromeare aborted
Biology has an embarrassing past in eugenics. And we’re not just talking about the
Nazis—the USA has a proud history of eugenics to go along with its proud history ofhating immigrants (I mean recent immigrants, not the ones from fifty years ago, whoare all swell). [My above-mentioned lead author refers me to this article on and having read itI too recommend the first 80%.]
If I may resort to a dictionary definition, the OED tells us that eugenics is the
science “pertaining or adapted to the production of fine offspring, esp. in the humanrace.” In the past, that meant killing parents who turned out badly in life or had bignoses, but hi-tech now allows us to go straight to getting rid of the offspring beforeanybody has put in too heavy an investment.
Anyway, I won’t go further with this, but to point out that what we’ll do with all this
fœtal genetic info is an open question—and a loaded one, since the only choices with afœtus are basically carry to term or abort. The consensus seems to be that aborting dueto Down syndrome is OK and aborting due to red hair is not, but there’s a whole rangein between. If you know your child has a near-certain chance of getting Alzheimer’s80 years after birth, would you abort? [This Congressional testimonapproximately asks thisquestion.]
Implication five: the ethics of information aggregation
• It is annoying and stupid that every time you show up at the doctor’s office, the
full-time paperwork person hands you a clipboard with eight papers, each of whichasks your name, full address, and Social Security Number. By the seventh page, Isometimes write my address as “See previous pp” but they don’t take kindly to that,because each page goes in a different filing cabinet.
You may recall Sebadoh’s song on data and database management: “You can never
be too pure/ or too connected.” If all of your information is in one place, either on yourmagical RF-enabled telephone or somewhere in the amorphousness of the web, thenthat’s less time everybody wastes filling in papers and then re-filling them in when thebureaucrat mis-keys everything. I have a FOAF whose immigration paperwork wasdelayed for a week or two because somebody spelled her name wrong on a form.
• Having all of your information in one place makes it easier for people to violate
your privacy and security. As advertisers put it, it makes it easier to offer you goodsand services better attuned to your lifestyle, which is the nice way of saying ‘violateyour privacy’. It means more things they can do to you on
The data consolidation=efficiency side is directly opposed to the data disaggrega-
tion=privacy side. There is no solution to this one, and both sides have their argu-ments. A prior entry discussed how information aggregation can lead to butwe should bear in mind that the same technology discussed there made the innocuousand essential U.S. Census possible. The current compromise is to consolidate more andput more locks on the data, but that doesn’t work very well in practice, as one breachanywhere can ruin the privacy side of the system.
Back to genetics, when we have a few more snips of information about what all
those genes do, your genetic info will certainly be in your medical records. This is agood thing because it means that those who need to will be able to diagnose you morequickly and efficiently; it is a bad thing because those who don’t need to know mayalso find a way to find out personal information about you.
At the moment, you can rely on the anonymity of being a needle in a haystack,
the way that some people who live at the top of high rise buildings are comfortablewalking around naked and with the curtains open—who’s gonna bother to look? Butas the tools and filters and databases become more sophisticated, the haystack mayprovide less and less cover.
So we’re going to have a haystack of data about you (and your fœtus) right soon.
Unfortunately, we don’t quite yet know how to analyze, protect, or act on that haystack.
I guess we’ll work it out eventually.
Caroline Mansfield, Suellen Hopfer, and Theresa M Marteau. Termination rates after
prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner andKlinefelter syndromes: A systematic literature review. Prenatal diagnosis, 19(9):808–812.
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