The End of Disease, pt. 1
I’ve been tooling around with this idea that 1) may be brilliant in its simplicity and clarity or 2) may be totally obvious to everyone but me. It goes something like this:
We are entering a Third Phase of medicine - one that spots disease and illness based on risks rather than one that responds to symptoms (phase 1, from pre-history to the mid 19th c), or one that seeks out the causes (phase 2, from circa-1850 to just about now).
These three phases closely parallel our technological capacity to spot disease: Phase 1 was primed to spot symptoms because humans relied on our senses - and nothing more - to recognize illness. If we couldn’t see it (or smell it), it wasn’t yet evident. Phase 2 emerged with the perfection of the microscope and the discovery of the germ theory of disease: finally we could see disease in its pathogenic form - bacteria, mostly - and thus began a race to find the little buggers that were causing disease. The late 19th century saw a flurry of diagnosis, as the cause of one disease after another was identified, and the Pasteurs and Kochs went about devising antibodies or vaccines to vanquish them. So it went for a century, culminating in the eradication of smallpox in the 1970s, when it seemed possible that we could not only treat causes, but eliminate them from the face of the earth (turns out smallpox was an exception, not a harbinger, but that’s another story).
So now this third phase dovetails with the bevy of new diagnostics emerging - devices and techniques that look for certain molecules and DNA strands to not only detect the presence of disease, but predispositions towards certain conditions as well. This what’s behind announcements like this one today, that they’ve found another gene that may be linked to a certain condition (in this case, colon cancer).
This third phase contains elements of what many are calling “personalized medicine,” but I hate that term - it sounds too servicey and implies that this is simply regular medicine/clinical practice that’s been tailored for you, as if we have a computer watching our health (it’s “personalized!”). To my mind, what’s happening now is much more than simply a move to personalization; it’s an entirely new way of relating to disease and illness, one that’s as impactful and as new as the realization that germs - not bad air or bad luck - caused disease. What’s happening now makes disease/illness an optional state, one that can be opted out of (ideally) or engineered against (more likely). It’s the same sort of thing that’s going on by our treatment of high cholesterol - which is, after all, not a disease at all but a natural substance in the body, large amounts of which simply indicate a likelihood to develop heart disease sometime in the future. Or to put it another way: high cholesterol is a “risk factor” for heart disease, not a disease itself. But it’s one that we now treat to the tune of $30 billion a year.
What’s significant, then, is that with the dawn of genetics - specifically, the emergence of “biomarkers” like certain genes or antibodies that testify to the current or potential presence of disease - we’ll be dealing with illness in an entirely different way than ever before in history. For one, we’ll be treating disease before it happens, which creates all sorts of ethical issues (when to intervene? How aggressively to treat?). And secondly, we’ll be oftentimes “diseased” even when we aren’t (using current understanding of the term). This is already picking up heat as “genetic profiling,” which can be good - we’ll know what our profile holds - and bad - insurance companies, employers, and potential mates could discriminate against us for what our profile shows. It’s going to be a messy and remarkable future, to put it mildly.
I’ll be posting more about this idea in the weeks to come - but want to get it out there in case anybody has any ideas.
June 1st, 2007 at 1:00 pm
I’m more interested in what more gene profiling can do for public health initiatives than what it can do for me, personally (good or bad).
As you point out - at what point do medicine or public health initiatives intervene? When do the benefits outweigh the risks? How can we create sustainable, affordable public health efforts to identify and mitigate the effects of these fateful factors, or is that even possible with something so (supposedly) personalized as a gene?
On the personal level, too, in phase 2 medicine there is already a pervasive lack of patient empowerment in the treatment decision-making process. When faced with genetic evidence for possible future disease states, it seems like it would be harder for individuals to refuse or negotiate treatment - somehow, genes trump all other factors, in spite of the fact that we still understand so little about relationships among genes and between genetics and the environment. For that matter, is our working definition of a gene all that helpful?
How will we conceive of illness in this “messy and remarkable future” if etiology replaces outcome as defining the disease state?
Oi!
June 8th, 2007 at 10:14 am
Many people with lung cancer have a history of smoking, but many smokers never get lung cancer. And many non-smokers do get lung cancer. So clearly, we can’t define disease by etiology, it must be defined by outcome.
Although I can see where you are headed with this, it strikes me as tending too far towards the “gattaca” reality than what we really face in the world of health care in the US. Reality tells us that the high numbers of uninsured people in the US don’t have access to preventive care and those that do, don’t access it very frequently. HEDIS data shows that low numbers of insured populations get recommended screenings and treatment, so I’m a bit skeptical that we will start “personalizing” medicine anytime soon. I think we would be lucky to adopt a lower tech system as seen in the UK or Canada, and reduce our mortality and morbidity rates to those of other industrialized nations before we get too carried away with genetic disease profiles.
Perhaps you have more of a birds eye view, but I think genetic information may be useful in seeing how different profiles react to different treatments, but I don’t see it as the revolution that we need in healthcare at the moment. It would be a revolution if my friends in their twenties and early thirties would stop calling me to ask where they can get a PAP because they don’t have insurance…
August 28th, 2007 at 7:40 am
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