Upon seeing that he was not genetically predisposed to Alzheimer's, he picked up the phone to call his family with the good news.
Halamka is one of the first 10 volunteers of the Personal Genome Project to publicly release his medical record and personal genome. Spearheaded by Medical School professor George M. Church in January 2006, the PGP aims to create an extensive database of genetic information. The data will not only aid researchers finding treatments for disease, but also bring the dream of personalized medicine one step closer to reality.
Currently, it costs roughly $350,000 for a personal genomics company to sequence a person’s DNA. Complete Genomics, a human genome sequencing company, hopes to provide this service next year for only $5,000.
But Church said that even this comparative bargain is too much to ask of an average person. Instead, he envisions a future in which an individual can easily afford to use information from his or her genetic code to create a personal risk profile for common diseases.
PGP does not plan on sequencing any full human genome unless the price drops to about $1,000, Church said.
Only one percent of the human genome actually makes proteins, the building blocks of cells and tissues, and Church has sequenced roughly 20 percent of those protein-coding genes for each of the PGP-10, including himself.
Church said that the partial genome sequences—derived from skin, blood, and saliva samples—would provide valuable insight to researchers.
“We think that we’re providing a complicated but useful and low cost data set,” Church said, adding that genetic information is also available on many of the PGP-10’s traits, including everything from height to a tendency to cough often.
Although the PGP genome database currently consists of only 10 data sets, Church said that his team has already started testing hypotheses based on information from two of the sequences.
“People think 10 isn’t enough,” Church said, “but there are amazing things you can do with only two.”
The PGP currently has 6,000 volunteers in line to have their personal genome partially sequenced and made publicly available. Church said that the PGP plans to recruit a diverse group that will represent a wide age range of health conditions.
Although members of the PGP-10 were selected through a rigorous screening process, all other volunteers only need to pass an online examination to ensure that they understand the consequences of making their genetic information publicly available.
The risks of sharing one’s genome sequence are significantly lower than they were last spring, when the PGP-10 agreed to embark on this project. In May, Congress passed the first piece of legislation to protect against discrimination based on an individual’s genetic information for health insurance and employment opportunities.
Halamka said he hopes that the passage of the law will encourage more people to participate in the project.
“You recognize that the science is very young, and we need better and more data sets that relate people’s medical records to their genome sequences,” he said. “We’re going to show that it’s okay, and that we can get 100,000 volunteers who are willing to contribute their data in the interest of advancing science.”
—Staff writer June Q. Wu can be reached at firstname.lastname@example.org.