TR: You have also said that you hope the PGP will spur development of software to enable personalized medicine, the idea that doctors can treat people based on their individual genomes. Why is this kind of software important?
GC: Let’s say I gave you your genome tomorrow. Would you know what to do with it? Probably not, even if you’re a physician. Someone is going to have to help physicians decide what kinds of diagnostics might be desirable, what kinds of nutritional interventions might be useful, or what kind of invasive procedures might be delayed.
You need software to do that. Hopefully, the PGP will help form a consortium of software developers to develop and test this kind of software on the PGP database and get it ready for general public use.
TR: What are some of the risks associated with having an individual’s genome freely available?
GC: At the top of the list is the risk of insurance and employment discrimination [based on genetics]. Those risks are addressable by appropriate corporate or government regulations, such as mechanisms of insuring health care whether or not you have a genetic predisposition to a disease. We will start the project with people who are at low risk of this kind of discrimination, and people who know what they’re getting into. It’s like debugging a complex system.
Close behind is the risk of social stigma, which change from year to year. When we were younger, people would not talk about taking cancer drugs or antidepressants, but now it’s common to share that kind of information.
TR: Do you think the benefits outweigh the risks?
GC: I think the benefits of the project outweigh the risks. But each individual will have to decide if the benefits outweigh the risks for them. People need to have thought out different scenarios and be comfortable with them. For example, Jim Watson [best known for solving the structure of DNA] announced he wants to have his genome sequenced and possibly published, but he doesn’t want to know his APOE4 status [the gene variant that increases risk for Alzheimer’s disease]. So there may be other things he doesn’t want to know, but he doesn’t know what they are yet.
TR: Why is it so important to have the information publicly available?
GC: We and others have raised concerns about the difficulty of maintaining anonymity [in medical records]. You promise subjects you will make the information anonymous, but it’s becoming increasingly easy to re-identify an individual. This project will hopefully raise consciousness on what we need to do to encourage insurance companies and government and employers to make this safer. This has already been done in some countries, so it’s just a matter of policy.