This past week, Gina Kolata of The New York Times reported on the development of a new paradigm in genetics research: the pursuit and identification of beneficial mutations. Genetics constitutes a major focus of medical research right now, and the rise of “personalized medicine” research has been well documented (as having positive and negative effects). In personalized medicine, researchers use DNA sequencing technology to discover influential mutations on human health. The fundamental undercurrent here is that much of human health is endowed by our personal genetic codes (read: imperfectly correlated).
The Times piece profiles one Doug Whitney, who has a mutation that has been demonstrated in previous research studies to cause early-onset Alzheimer’s disease. It’s a deadly alteration that, taken in isolation, has a bleak prognosis. However, Whitney has shown none of the symptoms typically presented by the disease at his age. In medicine, we would call him an outlier. In statistics, we would call him the “tail” of the curve. In religious circles, we might call him a miracle. Kolata reports that medical researchers have begun to seek out these blips at the tail of the curves in the effort to identify the core genetic origin of their good fortune. In other words, they are looking for mutants of the good variety: living, breathing, medical X-Men.
Real-life mutants have long been an interest of comic junkies everywhere, and I was no exception as a kid. I often imagined what it would be like to have superpowers. Still do. This is, though, perhaps less dramatic and sexy than shooting ice out of your hands, the realization of this fantasy in an intriguing way. So cool! And yet, as illustrated in the darker subtext of X-Men – as well as in comics like Watchmen — the exposure of mutants in society introduces a whole host of ethical issues. In the comics, these issues promote discrimination and social segregation. Similar issues have been demonstrated with the rise of personalized medicine across diverse social arenas, ranging from individual insurance costs to marriage partner selection among many others.
Accordingly, privacy rights and protection is a focal point for discussion when considering the potential proliferation of personalized medicine. It seems that the question of privacy will be the one of our time, with the ubiquitous spread of information in the Internet dimension of our lives. As personalized medicine continues to progress and advance, we will be forced to think about these ethical issues. One such question already popping up is whether or not to sequence the genomes of newborns: one camp says this provides an opportunity for prophylactic treatment and active monitoring, while the other worries that it introduces a tremendous burden of stress by providing a window into one’s fate.
Obviously, there is no single answer with regards to balancing stress and knowledge. After all, whether or not to eat from the Tree of Knowledge has always been the human question. A phenomenal, eloquent op-ed in the Times from last September addresses these questions, from the angle of “guilty pleasures.” The balance between “extension of life” and “delay of death,” as it applies to the ever-desired stretching of human longevity, is also prominently discussed by Zeke Emanuel.
The only clear takeaway is that these questions are intensely individual, and that they aren’t going away.
We will be forced to grapple with these questions in the future as patients and parents, citizens and scholars. For now, though, we ought to appreciate the profound implications of such magnificent advances in science. The “mutant” fantasy is materializing, pros and cons with it!
Eli Cahan can be reached at email@example.com.