You’ve got to love the lead sentence of the Daily Globe and Mail story about the launch of a Canadian Genome Project:
“Jill Davies is Canuck One.”
Ms. Davies is the first of what researchers hope will be 100,000 people to join the Personal Genome Project in Canada.
Like its counterpart in the United States, which was started in 2005 by Harvard’s George Church, the Canadian effort aims to create a public, and mostly anonymous, database of sequenced individuals. (Prof. Church is also on 23andMe’s scientific advisory board.)
North Americans aren’t the only ones building databases to fuel scientific breakthroughs. A similar program is expected to launch in Britain next year, while the Beijing Genomics Institute wants to sequence a million people in China. Another effort exists to sequence 100 Arabs in Saudi Arabia as well.
The Personal Genome Project in the US has already become an important source for reference data for researchers, including scientists here at 23andMe. The reference data has become instrumental in the development genomic medicine, but the data has also helped advance our understanding of basic human biology and the origins of modern humans.
Stephen W. Scherer, the director of a $100 million genomic-medicine institute at University of Toronto, is spearheading the Personal Genome Project – Canada. And like here in the US, the hope in Canada is that over time, as the costs for full-genome sequencing continues to fall, sequencing will become more common and the growing database will fuel future discoveries.
23andMe is also working towards the era of full-genome sequencing. Right now 23andMe offers genotyping, which looks at about a million points, or single-nucleotide polymorphisms (SNPs), in a person’s genome to glean health and ancestry information, rather than the entire sequence. But in the last year or two we’ve worked on several sequencing projects, including our Exome Pilot and a project sequencing individuals with rare mutations associated with Parkinson’s disease.
In contrast to genotyping, sequencing is a method used to determine the exact sequence of a certain length of DNA. You can sequence a short piece, the whole genome, or parts of the genome – such as the “exome”, the part of the genome formed by exons, the coding portions of our genes. These provide the blueprint for the creation of proteins. Depending on the location, a given locus may include some DNA that varies between individuals, like SNPs, in addition to regions with little or no variation. Thus, sequencing can be used to genotype someone for known variants, as well as identify variants that may be unique to that person. Finally, whereas genotyping requires up front targeting of precise base pairs, sequencing only requires targeting of the locus, or the genomic region, and therefore can discover additional genetic variation.
Unfortunately, sequencing technology has not yet progressed to the point where it is feasible to sequence an entire person’s genome quickly and cheaply. It took the Human Genome Project over 10 years’ work by multiple labs to sequence the whole genomes of just a few individuals to the tune of almost three billion dollars. But it is getting cheap enough that projects like the Personal Genome Project are setting their sights on sequencing hundreds of thousands or even millions of people. Combined with information about people’s health and traits, these huge data sets are poised to transform medical research in the years to come.