About
The development of SNP microarrays has led to a surge in genome-wide studies of common, complex disorders. These studies have been highly successful in identifying SNPs and haplotypes associated with disease. Nevertheless, current technologies lack sufficient resolution to further dissect disease haplotypes in order to identify genomic variation that corresponds to particular phenotypes. Full re-sequencing of candidate regions is required to understand the role of genes in disease and to develop treatments and prevention strategies. However, finding rare sequence variants by re-sequencing each of many genomes in a population is wasteful and prohibitively expensive for many laboratories. Although next-generation DNA sequencing methods reduce cost per base, cost scales as sample numbers increase.
Population Genetics Technologies was set up to commercialise a technological solution to this problem. We have developed a proprietary system that drastically reduces the amount of work involved in sequencing large numbers of samples. Our aim in initial product offerings is to increase productivity by at least an order of magnitude. The net effect is that the costs and work of genotyping a population are significantly reduced. Moreover, as our technology complements rather than replaces existing sequencing instruments, it is applicable as new sequencing technologies or platforms are launched. In addition, as high-throughput studies become more affordable, the number of laboratories able to use the technique will increase.
In 2005 we received a Strategic Translation Award from the Technology Transfer Fund at the Wellcome Trust. Having successfully demonstrated the feasibility of our key technologies, in February 2008 we raised £3.8m in venture capital funding to test the combination of these technologies in integrated workflows and to validate their use with small population samples. In May 2009 a second tranche funding was received in response to PGT achieving its scale-up and commercialisation milestones.
Our approach will make a significant impact on genetic studies, facilitating discovery of rare variants that conventional analyses have struggled to detect. Equally significant, by ‘democratising’ the ability to analyse entire genomes at reasonable cost, additional studies can focus on specific sub-populations, such as those with a subtype of a condition, in a particular geographic region, or from a particular ethnic group. The market also extends to other fields that are searching for the genetic basis of biological traits, including studies on plants, animals, micro-organisms or humans.