When genetics gets personal

5 min read

Personal DNA analysis promises ethical quandaries

Just five years after the Human Genome Project announced it had decoded the first human DNA, the era of personal genetics is dawning, bringing with it not just the promise of targeted, personalized medicine and a new level of self-knowledge, but also a host of ethical, legal, and practical issues. A new project out of a Harvard Medical School genetics lab is trying to make sure we’re prepared to deal with the potential benefits and pitfalls arising from these issues.

Though just a handful of years have passed since the Human Genome Project’s scientific milestone, technology’s rapid advance has transformed the genetics landscape. While the decoding of the first human genome took 12 years and $3 billion, today companies have opened shop offering personal genome decoding for just a fraction of the cost. Within five years, experts predict, such a service could cost as little as $1,000 and take just days.

While knowing one’s genetic makeup could reveal secrets of ancestry, health, and other characteristics, the access to these secrets raises potentially troubling ethical and legal questions, ranging from control of that information, to health insurance coverage, to job discrimination, to issues of privacy within families whose members share the same genetic background.

That’s where the Personal Genetics Education Project comes in.

The project was founded two years ago by Harvard Medical School Genetics Professor Chao-Ting Wu and Jack Bateman, a former postdoctoral fellow in Wu’s lab and now assistant professor of biology at Bowdoin College. It is headed by Dana Waring, who has developed educational material about personal genetics and who presents that material to schools, colleges, private firms, and even the U.S. Senate office of Democratic Party nominee Barack Obama. Waring advised Obama’s policymakers on ethical issues in their Genomics and Personalized Medicine Act of 2006.

“It’s the old story of technology coming first and everyone else catching up,” Waring said. “We’re talking optimistically and hopefully, but there are risks, many of which are not totally clear.”

Wherever she speaks, Waring said, people are quick to pick up the implications of the sudden availability of such intimate information.

She offered the example of a child who wants to be tested for an inheritable disease even though her parents don’t want to find out. The test comes back positive and it turns out the disease is inherited through the mother. What does the child do? Does she tell her? Does she tell her siblings about her mother or even about herself, since telling people about herself would automatically tell them something about her mother?

New knowledge about a genetic susceptibility for ill health also has implications in areas such as health insurance and employment because an employer may not want to hire someone likely to develop an ailment that could increase the employer’s health insurance costs.

Waring has developed several lessons and made them available to high school and college teachers on the project’s Web site. The classes, she said, are intended to educate students about the science surrounding personal genetics and to foster discussions about its potential benefits — such as improved diagnosis and treatment, early detection of disease, and more effective medicines — as well as its potential pitfalls.

Today’s high school and college students are important audiences, said Wu and Waring, because the personal genetics revolution will be maturing as they do, and as they take the reins of society, they’ll be the ones making the ethical, moral, and legal decisions about the technology’s use.

“It’s in their hands to guide this world,” Wu said. “We’re not really telling them what to think, just posing these questions.”

Wu said the project has its roots in conversations she’s had over the years with other geneticists, including her husband, Harvard Genetics Professor George Church, who is running the Personal Genome Project, an academic effort to decode the genomes of as many as 100,000 people.

Wu and Church traveled to meet volunteers in that project and Wu said there was universal curiosity about the work. But the curiosity and enthusiasm was almost always tempered by reservations and concern about the use of the information to be derived.

Though companies already exist that will decode a person’s genome and compare it with known markers for genetic diseases and other things, Wu and Waring expect the costs to drop rapidly and the quality of the scans to increase dramatically in the next few years. Though the Personal Genetics Education Project has been up and running for two years, Wu and Waring said they feel like they’re behind, trying to catch up. They already have more requests for speaking engagements than they can fulfill and are talking about seeking new sources of funding and hiring more staff.

“It’s like many other revolutions. [How you handle it depends on] how educated you are and how prepared you are,” Wu said. “It can be fantastic if we’re prepared for it.”

Among their plans is outreach to physicians, a substantial number of whom received their M.D.s before the personal genetics revolution hit. Wu said they’d like to put together an easy-to-read booklet with the basics of what’s going on, so doctors understand what’s happening when a patient walks in with a genome scan and asks for advice. As prices come down, Wu said, it may become standard medical practice for patients to get their genome scanned and kept as part of their medical records.

“We feel it’s important to engage people before it’s pounding on your doorstep,” Waring said.