Ethics of genetic information: Whole genome sequencing is here, and we need logistics for sharing results.

Are You Scared of What’s in Your Genome?

Are You Scared of What’s in Your Genome?

Health and medicine explained.
Jan. 7 2013 3:51 PM

It’s Time To Stop Obsessing About the Dangers of Genetic Information

People are smarter and more resilient than ethics debates give them credit for.

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Genetic screening, in other words, is getting more useful. And as it gets more accurate, yes, it is going to sometimes predict devastating diseases, and yes, cause some anxiety. And?

While bioethicists agonize over how to prevent patient distress, genetic technology is popping up outside of the protective confines of a scientific study or medical clinic. For all you garage do-it-yourselfers, $600 will get you a kit to build a rudimentary gene sequencer using nothing more than two screwdrivers and a pair of pliers. Last September, 23andMe sequenced the exome—the millions of DNA bases in the genome that code for proteins—of a pilot group of customers for $999 a pop. The company plans to eventually offer whole-genome sequences, consisting of 3 billion pairs of DNA bases.

As no-doctor-necessary consumer sequencing becomes more popular, the private genome interpretation industry will also boom. “It’s really not too long before this is no more complicated than setting up an Orange Julius franchise at the mall,” says geneticist Misha Angrist of Duke University.


Competent DNA interpretation is complicated, of course, and I’d rather consult a doctor than go to the skeevy guy at the mall kiosk. But that’s not the choice I have, not yet anyway. While wasting time debating ethical dilemmas, the medical community has neglected to talk about more pressing logistical problems: 1) How to ask people ahead of time what, precisely, they want to know (and don't want to know); and 2) How to improve the medical system so doctors can follow through on those wishes.

The first problem boils down to the concept of “informed consent,” which usually means page after page of consent forms outlining the rights of a patient or research volunteer. (Whenever I talk to researchers about informed consent, they invariably compare it to the iTunes user agreement, where everybody checks the little box without reading the text.) Genome sequencing is so new that informed consent doesn’t always happen, resulting in doctors ordering tests without asking people ahead of time about what to do with the results.

Asking people what they want to know is tricky because you don’t know what will be relevant before you look at the data, notes Amy McGuire, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. “It’s impossible at the front end to go through every possible piece of information they’d get back and ask them how they’d feel about that.”

Still, people can be informed about the general categories of concern—and new technology can guide them through the process without much cost. A website called my46, for example, allows research volunteers to set preferences about what types of information they want to know and offers pros and cons for each decision. I can easily imagine a future in which the process of finding out about your genome doesn't require extra trips to your doctor or daunting paperwork. It could be more like filling out an online dating profile.

That’s not to say that doctors shouldn’t be part of the process. A (good) doctor knows you, your habits, the drugs you’re taking, and your family medical history. And doctors are legally bound to keep your information private. I would love to discuss some of my 23andMe results about skin cancer with my dermatologist, for example.

The trouble is, the average doc isn’t likely to be of much help. A survey published in May found that 74 percent of internists from academic medical centers rate their knowledge of genetics as “very/somewhat poor.” A 2011 report of Canadian oncologists, cardiologists, and family doctors showed that 92 percent had no formal undergraduate training in genetic testing, and 89 percent had no graduate training. Only 29 percent said they are able to interpret the results of genetic tests, and just 30 percent said they are comfortable discussing test results with patients.

These studies may even underestimate the problem. “The only thing more crazy than what doctors don’t know about genetics is their lack of understanding about what they don’t know about genetics,” says Laura Hercher, a genetic counselor at Sarah Lawrence College in New York.

Medical schools are beginning to add genetics to their curricula, and some academic medical centers are offering one-off genetics courses for doctors, but they’re far from sufficient. We need to come up with better ways to keep doctors informed about the ever-changing insights of genetics. One way is by asking the advice of genetic counselors. There aren’t nearly enough of them to go around, but the supply might change if doctors were asking for them. A cheaper option is gadgetry. Just as many doctors depend on a phone app called Epocrates to look up details on drug dosing and side effects, they could consult an e-genome cheat sheet.

Even if every doctor in the country were fully educated on genetics, we’d still have the massive problem of cost and access. Although the demand will certainly be there, both for medical utility and plain old curiosity, nobody’s talking about setting up efficient and economical ways to help people understand their genomes on a wide scale. “A lot of this discussion takes place in a total fantasy realm where costs are never considered,” Hercher says. “We’ve got to try to figure out a fair, humane system that will work in the real clinical world.”

There’s no way around the fact that genomes are complicated and, at least for now, difficult to interpret. And sometimes, yes, they will lead to unpleasant information. But they’re not going to suddenly fade away. More and more people are getting their DNA sequenced and eager to find out what secrets, if any, it holds. So let’s figure out how to tell them.