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Reading the Helix
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Meredith McCormick
Meredith "Molly" McCormick is a soon-to-graduate biomedical engineer at Washington University in St. Louis. She started sneaking over to the aerospace department her junior year and is now planning to apply her biomed skills in that area, giving her a broad range of scientific expertise. She lives with a pet rat and a pet art student. They all enjoy political and scientific discussion over cookies and milk, especially the rat. 
By Meredith McCormick
Published on 11/19/2007
 
Hang on to your chromosomes, folks: the age of personal genomics is here...

Accessing your Personal Genetic Profile
Hang on to your chromosomes, folks: the age of personal genomics is here.

Long anticipated by the science-fiction crowd, we are entering a time when our constituent coding information can be obtained–and the price is getting lower every day. But this access to what may be the closest we ever come to fate has stirred up a lot of controversy. It will be up to our current society to direct the future of this powerful technology, so it would behoove us to start thinking.

Humans have unknowingly manipulated the genetic makeup of their surroundings since prehistory. Dogs, sheep, and cattle are only a few of the species whose current forms are entirely due to human meddling, as are wheat, hops, and many types of rice. All this was accomplished with only the vaguest notion of inherited traits; black goats make more black goats, except when they don't. Even Darwin's theory of natural selection relied on pangenesis, which, although a stab in the right direction, was severely flawed. It was only with the 19th-century Austrian priest Gregor Mendel (of the infamous pea experiments) that the idea of quantifiably binary–i.e. dominant/recessive–hereditary elements was ever conceptualized. Furthermore, all these postulations were simply that; postulations. Nobody knew the physical nature of the hereditary elements, except that they somehow involved the unmentionables.

Enter DNA. It was first photographed with X-ray diffraction images by Rosalind Franklin and, based on this and prior research regarding the chemical composition of cell nuclei, Dr.'s James Watson and Francis Crick were able to correctly surmise its structure. They won a Nobel for it in the 1960's. In 2003, the Human Genome Project successfully completed the first-ever mapping of the human genome, after 13 years and 2.7 billion dollars. Initiatives sprung up to identify all the little mutations, single nucleotide polymorphisms (SNPs, or "snips") that differentiate one person from another. And, most exciting of all, people started figuring out how these SNPs help define who we are and who we may become.

Today, we are technologically advanced enough to begin taking advantage of our knowledge without paying an arm and a leg. Dr. Watson had his genome sequenced last spring for less than a million dollars, and sequencing startups are currently charging just under $1,000 to sequence all your interesting bits, i.e. the codes that affect your chances of, say, getting Alzheimer's or breast cancer. Two of the frontrunners in this area are Navigenics and 23andMe, who offer spit-in-a-vial kits that they process and turn into personal statistical data you can access via their website.

So the question becomes: now what?

For nearly a century, we've come up with some very creative answers in anticipation of that very question, some of which are more gruesome than others. Aldous Huxley's Brave New World envisions a civilization that manufactures people for their role in society: astronauts are bred to be disoriented in anything other than weightlessness, menial workers are made to be imbecilic so they don't mind their lot in life, and top scientists are grown with the finest brains. Closer to today's reality is the situation in Gattaca, a 1997 film that downplays the idea of purposeful aberration–a piano player with six fingers on each hand, for example–in favor of simple gene-editing and, most importantly, genome analysis and how it will play into society. The protagonist is destined to never hold a prestigious job because his genome is riddled with imperfections that will almost certainly kill him by age 30.

As demonstrated by these two powerful stories, concerns over our dawning genomic understanding falls into two broad categories: omniscience and omnipotence. Genomic omniscience is already a concern; many of us born in the 80's, myself included, underwent some of the earliest widely available DNA checks via amniocentesis for problems like Down's Syndrome and spina bifida. Although there are few ethical concerns with the procedure itself, the sticky part comes when a test comes back positive. What do you do then? Abort? Consign yourself to a life of increased hardship for you and the child? What if the problem is so severe your child will only live for a few weeks after birth, all of which would be spent in excruciating pain?

In the past few decades, humanity has navigated these baby steps reasonably well, mostly by not fussing too much about whatever the parents opt to do. But when our entire genetic code can be read in all its subtlety, how will we respond? Will we really want to know everything about ourselves? Many of us will say yes, many will say no, and many will fall in between. Dr. Watson himself requested to know everything about his genome except whether he has the SNPs associated with increased risk for Alzheimers, so he won't agonize over losing his mind every time he loses his keys.

In a more sinister vein, how will health and life insurance policies, private or government-funded, respond? I don't foresee Medicare refusing heart-related medical coverage to individuals whose genes raise the risk of cholesterol plaques, but I can see bias sneaking in the other way: private companies will give you a discount if you can show your genes predict a robust ticker till you drop dead of something else. And who's to say that's wrong? It's certainly good business practice. Companies might wish to screen potential employees (as in Gattaca) to ensure, for example, that people with a high risk of addiction don't work at pharmacies or individuals prone to risk-taking don't work in an explosives factory. None of this would be required in an application, because of privacy laws–but like SAT scores, if you don't "voluntarily" include them, people assume the worst. Even genetic problems totally unrelated to the business might cause some hesitation in hiring because the company doesn't want to pay the health insurance.

The people who do choose to know their predispositions will find that the shifting nature of scientific conclusions leaves them in a lurch; after cutting something delicious out of their diet for the past three years because they supposedly don't have the optimal SNPs for digesting it, scientists suddenly discover it's actually good for them. Although dieting trends have always fluctuated, with the same result, the recommendations that suddenly change might deal with more important things than body weight. And a number of people, instead of using the knowledge as a way of combating the bad cards they'd been dealt, might take a more fatalistic approach: I don't have any of the genes correlated with higher intelligence, why bother trying in school?

Which bring us to another huge ethical issue. Dr. Watson managed to make the final note in an otherwise melodious career a very sour one by expressing racist views on intelligence (which, thus far, have never been supported by any genetic evidence). But what if we do discover that once race has more of the intelligence-correlated genes than another? How far do we take genomes as indicators of objective reality? Do we take them far enough to start editing them in the unborn, once we have the technology? Are we ready to take on that kind of omnipotence? Are we at risk of becoming Huxley's Brave New World if we do?

I plan on pondering this extensively while I save up my $1000.