Harvard Medical School
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Harvard Medical School Office of Public Affairs
Oct. 20, 2008, Press Conference (18.8 MB MP3, 41:07)
10 Pioneers receive genome data in phase-one of Personal Genome Project
Dr. George Church
BOSTON, Mass. (Oct. 20, 2008) —Ten individuals, many of them world renowned researchers, reviewed—and in most cases released—partial coding region data of their genomes in the first phase of a major initiative to make personal genome sequencing more affordable and accessible. The Personal Genome Project (PGP), led by Harvard Medical School geneticist George Church, will serve as a test-bed for new DNA sequencing technologies and a resource for researchers probing the genetic basis of diseases and other traits.
The ten pioneers, termed the PGP-10, include language and cognition researcher Steven Pinker, IT and health care startup investor Esther Dyson, HMS chief information officer John Halamka, and Church himself. The group received part of the protein-coding regions of their genomes from PGP staff on Oct. 20. After reviewing the information with a physician, they had the option of sharing it with the research community and/or the general public through the PGP website.
Volunteers announced their decisions during a press conference at 4:30 pm on Oct. 20. Nine of the volunteers said they would release their data. Due to technical problems, Misha Angrist, an assistant professor at Duke University, did not receive a full dataset. He will decide whether or not to release that genomic information after reviewing it.
“It’s not the personal genome project that’s releasing the data, it’s the individuals releasing their own data, which is perfectly within their rights,” explains Church. “We just want to make sure they’re well informed before making this decision.”
When Church first proposed sequencing the genomes of 100,000 individuals, Harvard University’s Institutional Review Board, which oversees research on human subjects, asked him to identify potential pitfalls by sequencing and publishing his own genome.
Church subsequently asked nine colleagues with genetics expertise to join him in the first phase of the project, forming the PGP-10. (For a complete list of the PGP-10, visit http://www.personalgenomes.org/pgp10.html)
The PGP website now displays the DNA sequences, cell-lines, and medical and non-medical traits of volunteers who agreed to disclose their personal information. Anyone with Internet access can mine these data for patterns.
“It’s truly an open source model,” says Church. “We’re not forcing other labs to collaborate with us or coauthor papers with us to gain access to the data.” It also provides teachers, students, and researchers from all walks of life access to the information.
Esther Dyson hopes that she can inspire other individuals to share their personal information for the greater good. If enough people publish their genomes along with detailed information about their personal traits, researchers will uncover associations between particular DNA sequences and diseases. She had already decided to share her genome, regardless of what she learned during the Oct. 20 consultation.
“The message isn’t that everyone should publish their genome and health records on the Internet, but that some people can, you can watch them do it, and it’s probably not going to harm them,” says Dyson. “Plus, it may even be useful.”
“I have accepted the fact that being a scientist, being involved in electronic health records, standards and genes, I am willing to be an early test subject in the interest of protecting others in the future,” adds John Halamka. “When I signed up for the Personal Genome Project, we didn’t have the Genetic Information NonDiscrimination Act, so this was a leap of faith in some ways.”
Signed into law May 21, 2008, the Genetic Information Nondiscrimination Act (GINA) protects Americans from discrimination based on their genetic information in health insurance and employment.
A genome is like a 6-billion-letter social security number, unique to each individual, so PGP participants are not guaranteed anonymity or privacy. Potential volunteers receive detailed information about the risks of participating before enrolling.
In exchange for assuming risks, PGP participants are treated as research collaborators, essentially analyzing their own DNA sequences alongside professional scientists.
“In the same way that you have amateur astronomers who help track celestial events, we hope to inspire a whole generation of ‘amateur geneticists’ to mine DNA sequences,” says Church.
The next crop of PGP participants will likely include such amateur geneticists. Volunteers must simply pass a test to demonstrate sufficient genetic literacy. On April 15, Harvard University’s Institutional Review Board approved this approach and gave Church permission to scale his project to 100,000 people. With the cost of sequencing rapidly approaching just $1,000 per genome, Church’s goal of sequencing many genomes from many individuals seems feasible—and could change the paradigm from researchers being possessive of data obtained with large grants to a scenario where research subjects can share data that they already have.
As more information from more volunteers is gathered, researchers will increasingly be able to link particular sequences with traits. As a result, genomic data will be more medically meaningful.
The project is intended to encourage genomic methods and interpretation software to help physicians manage patient risk more effectively in such areas as diet, exercise, and pharmaceuticals. The PGP may help usher in this age of personal genomics.Conflict of Interest Disclosure: A number of DNA sequencing companies have licensed Church lab patents or software. Church also serves in scientific advisory roles for DNA sequencing companies and direct-to-consumer genomics. For a full list of Church’s technology transfer and commercial scientific advisory roles, please visit http://arep.med.harvard.edu/gmc/tech.html
Oct. 20, 2008, Press Conference (18.8 MB MP3, 41:07)
Harvard Medical School has more than 7,500 full-time faculty working in 11 academic departments located at the School's Boston campus or in one of 47 hospital-based clinical departments at 18 Harvard-affiliated teaching hospitals and research institutes. Those affiliates include Beth Israel Deaconess Medical Center, Brigham and Women's Hospital, Cambridge Health Alliance, Children's Hospital Boston, Dana-Farber Cancer Institute, Forsyth Institute, Harvard Pilgrim Health Care, Hebrew SeniorLife, Joslin Diabetes Center, Judge Baker Children's Center, Immune Disease Institute, Massachusetts Eye and Ear Infirmary, Massachusetts General Hospital, McLean Hospital, Mount Auburn Hospital, Schepens Eye Research Institute, Spaulding Rehabilitation Hospital, and VA Boston Healthcare System.