George Church’s lab makes the gene sequencer Polonator G.007 — offered at the low price of $150,000. Church maintains that, while the Polonator isn’t up to whole-genome reads, it is clocking in at about one-third the cost of Applied Biosystems’ estimate ($60,000 for Applied Biosystems. So the Polonator is at $20,000 but needs to improve for whole genome reads).
PGP (personal genome project, sequencing the 100,000 exomes in the PGP, exomes are 1% of the genome that is the most important), the Polonator, and the fact that the rest of the world is finally starting to understand what he’s been talking about, Church’s obscurity is coming to an end. He sits on the advisory board of more than 14 biotech companies, including personal genomics startup 23andMe and genetic testing pioneer DNA Direct. He has also cofounded four companies in the past four years: Codon Devices, Knome, LS9, and Joule Biosciences, which makes biofuels from engineered algae.
If the PGP were simply an exercise in breaking down 100,000 individuals into data streams, it would be ambitious enough. But the project takes one further, truly radical step: In accordance with Church’s principle of openness, all the material will be accessible to any researcher (or lurker) who wants to plunder thousands of details from people’s lives. Even the tissue banks will be largely accessible. After Church’s lab transforms the skin into stem cells, those new cell lines — which have been in notoriously short supply despite their scientific promise — will be open to outside researchers. This is a significant divergence from most biobanks, which typically guard their materials like holy relics and severely restrict access.
For the PGP volunteers, this means they will have to sign on to a principle Church calls open consent, which acknowledges that, even though subjects’ names will be removed to make the data anonymous, there’s no promise of absolute confidentiality.
To Church, open consent isn’t just a philosophical consideration; it’s also a practical one. If the PGP were locked down, it would be far less valuable as a data source for research — and the pace of research would accordingly be much slower. By making the information open and available, Church hopes to draw curious scientists to the data to pursue their own questions and reach their own insights. The potential fields of inquiry range from medicine to genealogy, forensics, and general biology.
Church cautions, however, that keeping clinicians and patients in the dark about specific genetic information — essentially pretending the data or the technology behind it don’t exist — is a farce. Even worse, it violates the principle of openness that leads to the fastest progress. “The ground is changing right underneath them,” he says of the medical establishment. “Right now, there’s a wall between clinical research and clinical practice. The science isn’t jumping over. The PGP is what clinical practice would be like if the research actually made it to the patient.”
In the not-too-distant future, Church says, hospitals and clinics could be outfitted with a genome sequencer much the way they now have x-ray machines or microscopes.