Ten years ago, the Human Genome Project was completed. Many scientists toiled for years to complete the project, which involved determining all three billion base pairs of DNA that make up a human being. Like the great collaborative quests of the past, such as sending a man to the moon, the Human Genome Project was a testament to what can be achieved through a national will and a unifying goal. And while new revelations about the way our genes work and how they are modified are produced constantly, the sequencing of the genome still represents a milestone in the history of science and a time to reflect upon the broader issues raised by such an intimate understanding of ourselves.
Ten years later, where are we? As the New York Times pointed out in a recent article, the promised medical revolutions afforded by the Human Genome Project, so called "personalized medicine" have not materialized. While a few vocal critics doubt it will ever yield important medical knowledge, there is much hope for optimism. A project with such massive scale necessarily produces benefits only after an initial period of learning how to handle and analyze the data effectively. As Francis Collins, director of the National Institutes of Health, said, "we invariably overestimate the short-term impacts of new technologies and underestimate their longer-term effects."
A few years ago, it would have cost a million dollars to have your own personal genome sequenced. In the very near future, it will drop below $1000. It's hard to underplay the significance of this — for a little more than the price of an iPad, you will have access to essentially every single piece of DNA that gave rise to the person staring back at you in the mirror.
As sequencing becomes more accurate and cheap, and the underlying genetics of diseases become more apparent, the ethical issues of genome sequencing will intensify correspondingly. If it is found in the future that a child has all the genetic hallmarks of early-onset Alzheimer's, or an increased propensity towards Huntington's disease, should he or she be told? Living one's entire life with this knowledge would certainly be a psychological burden, one that no one should feel too keen to force upon another. At the same time, it also does not seem right that such information should be hidden.
Such information could also easily be used for good. If a young girl finds out that she is especially susceptible to breast cancer, she could make lifestyle changes (skip the tanning beds) and get frequent mammograms. One can envision a (perhaps overly idealistic) future when the genetic predispositions of people to certain diseases are known far in advance of the onset of the diseases, leading to proactive, efficient medicine, helping both patients themselves and lowering medical costs.
The most important question, however, is philosophical. What are we to make of humanity in the genomic age? Are we just AGCTTGACT, and millions of other sequences like it, interacting with the environment in different ways? Is there still room for humanism; for morality; for a sense of self-determination? Because we have an extra base here and a large deletion there, did that fate us to be left with that uncomfortably large nose? Does it make us less smart than the student next to us in class, more inclined towards religiosity? Is the very way we think, the ultimate prize of our autonomy, skewed one way or another?
In a word, yes. However, this sort of fatalism is undermined in the world. Michael Jordan obviously had the genetics necessary to be one of the greatest basketball players ever. But he was also the 15 year old who got cut from his high school basketball team. People quit smoking, lose hundreds of pounds permanently and kick drug habits.
Someone once told me that love was a myth. I inquired as to why, and he responded that it was just a release of the hormone oxytocin (a bit of a simplification itself). But no one ever claimed that love is some magical feeling that has no basis in reality, invalidated by the fact that the hormone oxytocin mediates feelings of attachment. Quite the opposite. It's the decision to sacrifice your own self-interest for someone else, to commit yourself to that person fully. If these choices are mediated by oxytocin biologically, so what? Obviously there is a biological basis for it.
The same is true with the genome. We are physically real — we've known for a long time that we have cells and genes. If we find out later that we have genes that make us confident or timid, what's the surprise? We always knew there was something inside the proverbial black box that made us who we are.
So far, the most striking fact from the entire venture is simply how complex we (and, unfortunately, our diseases) really are, and how incredibly difficult it is to make sense of our genome and its dynamic changes. However, if some of these things should eventually be figured out, that should not change the way we see ourselves. We still love, cry, help people for no reason, spread rumors, declare war and make peace. Confirmation should not be mistaken for revolution. And while that uncomfortably large nose was probably determined from the start, it stands to reason that we are still unpredictable enough to make life interesting.
Edward A. Larkin is a senior with a double major in Biological Sciences and Classical Civilization. He can be reached at elarkin1@nd.edu
The views expressed in this column are those of the author and not
necessarily those of The Observer.
