The first 10 PGP volunteers are unlikely to receive any shocking news in their initial analyses. According to medical records available on the PGP site, they are a largely healthy group. Narcolepsy, asthma, depression, and basal cell carcinoma are some of the more serious conditions suffered by the so-called PGP 10. And at ages ranging from 44 to 59, none have suffered serious, early-onset genetic diseases.
The participants are more likely to learn that they are at a modestly increased risk of some common diseases. John Halamka, chief information officer at Harvard Medical School, got an early peek at his genomic information and discovered that he has double the average risk of obesity. “Even with this imperfect screening tool, if someone had told me 10 years ago I was at twice the risk of obesity, I would have stopped the cheeseburger, doughnut, and two lattes a day habit much earlier,” says Halamka. (The now slim physician was inspired to make lifestyle changes several years ago for other reasons, and is now a vegan who makes his own tofu and weighs 100 pounds less than he did at his heaviest weight.)
Open access to medical information is one of the most unique aspects of the PGP. The project website carries stripped-down versions of each of the PGP 10’s medical records. “It shows my height, my weight, every drug I’m on,” says Halamka. While the records are currently anonymized, it is fairly easy to deduce from birth dates and other details the identity of each individual.
The participants will decide today whether they want to make their genetic information and complete medical records public on the PGP website. “We might be called medical exhibitionists, pioneers, or cavalier,” says Halamka. Steven Pinker’s record already includes his name. For those who are curious about the world-famous linguist, professor Pinker has a pulse rate of 51 and is prone to “occasional swelling and blistering of toes after winter walks.”
Because participants’ medical records are collected along with their DNA, scientists will be able to search the database for links between genotype and phenotype. Other whole genome sequencing projects, by contrast, such as the internationally funded 1000 Genomes Project, will collect only genetic information. That project is intended to compare different sequencing technologies and document just the baseline variation in the human genome.
Church has emphasized open access throughout the development of the PGP. He argues that it is difficult to promise research subjects anonymity when the data being collected includes genetic information–the ultimate personal identifier–and medical records, which can often be used to identify an individual.
Not everyone thinks that the PGP model is the best approach to personal-genomics research, however. “It’s interesting and thought provoking,” says Francis Collins, former director of the National Human Genome Research Institute. “It’s one thing to get people more comfortable with the idea [of having their genomic information made public], but it’s another to ask them to give up any shred of privacy.”
Still, the project seems to have captured the public’s attention. Researchers have already received thousands of letters of interest for the next phase of the project. Volunteers will have to pass an online test assessing their knowledge of genetics, of the experiment, and of its potential risks. Participants will also be asked to help with fund-raising for the project by partially subsidizing their sequencing with a $1,000 donation.