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23 and thee

From the March ACP Hospitalist, copyright © 2010 by the American College of Physicians

By Brian Pavic

In 1998, when Ricky Martin and the Backstreet Boys were tearing up the pop music charts, Craig Venter, the founder of the Genomic Research Institute (and a world famous geneticist) declared that within five years everyone would be walking around with a credit card holding all their genetic information.

Venter’s timeline may have been a bit premature; even in 2009 a genetic identification card seems like something out of a futuristic sci-fi film. However, the fulfillment of his prediction may not be far off. A company in the Silicon Valley, cleverly named 23andMe, is making inroads into the business of personal genetic mapping: You buy a kit, you spit into the provided container, you mail said spit to California, and four weeks later you can retrieve your full genetic workup online.

Currently, the type of genetic map that 23andMe provides alerts you to your possession—or lack—of 500 common inheritable genes. Some genes, such as the BRCA1 and BRCA2 regions, signal potential development of serious diseases. This advance knowledge of one’s propensity for certain diseases can be an invaluable asset in terms of preventative measures and early treatment, but it can also be a liability.

Beyond the very personal question of “how much do you really want to know,” there is the ethical issue of access. If an insurance company requires genetic information, can it charge higher premiums for “at-risk” individuals? How will this development alter the already complicated system of health insurance in America?

As hospitalists, the information patients garner from 23andMe could make us long for the simpler days of improbable WebMD diagnoses. Patients will come armed with their genetic blueprints and ask: Will I develop diabetes? Was my heart attack genetically predetermined? Are these antibiotics dosed appropriately for me? Doctors in hospitals will have to know how to answer these questions. Given that most physicians do not have extensive training in molecular biology (or divination), the scenario presents a problem.

Clearly the big questions are ones for us to ponder and to debate as a society; I suspect that the discussion will be ongoing for years to come. At the same time, in the back of my mind, I’m coming up with another list of questions—smaller ones that many would say are inconsequential in the larger scheme of things. People associated with the medical profession, myself included, are often so entrenched in the life-and-death aspects of existence that we forget to consider life’s persnickety details. So let’s take a moment to consider not the existential questions that genetic mapping can raise, but the mundane, exasperating and inexplicable ones.

Can someone do research on which genes make eating paste so appealing to some children? I’m sure parents of paste-eaters across America would be thrilled to be able to pin that trait on someone. Likewise for the inability of some children to keep their shoes tied. Surely this is due to some sort of genetic deficiency: their feet being too close together, or lack of depth perception, or poor bow-tying skills. There would be fewer skinned knees in the world if we could figure this out.

Could genetic mapping help us to isolate familial quirks and perhaps even eradicate some of the less desirable ones? When my grandmother turned 58, she suddenly developed an insatiable desire for all things wrought-iron. She had never expressed any love for wrought-iron aesthetics before, but all of a sudden she started purchasing fences, furniture, plant stands, etc. The incident was merely amusing until a few years ago when my mother turned 58 and she too developed this inexplicable love for wrought-iron. She even had professed a strong dislike of wrought iron prior (probably because my grandmother had so much of it). Am I genetically destined to have a wrought-iron spell when I hit 58? Is it preventable? Is there any cure?

All children have an intense fear and ultimately a grudging acceptance of “turning into” their parents. Would it do us any good to have a genetic basis for this process? Do my genes predetermine that I will be the person that insists that everyone “say cheese” for group photos at every family function? Will tufts of hair sprout from my ears once I hit a certain age, no matter what personal care rituals I undergo? Are my feet genetically fated to make my running shoes smell like old bacon?

Somehow I doubt that much research time, energy or funds will be expended on these aspects of the human genome. At the end of the day, though, it comes down to the same question posed by the more well-known genes: Do you really want to know? Personally, I’m going to hope for a wrought-iron-avoiding and ear-hair-less existence. Perhaps I may have mutated.

Brian Pavic is a medical student at University College Cork, Ireland.

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ACP Hospitalist provides news and information for internists about the practice of medicine and reports on the policies, products and activities of ACP. All published material, which is covered by copyright, represents the views of the contributor and does not reflect the opinion of the American College of Physicians or any other institution unless clearly stated