Mass Analysis of DNA from Whole Populations.

One of the world’s leading scientists, Nobel Prize winner, Dr Sydney Brenner, has devised a new method for obtaining sequence information from thousands of genomes simultaneously. Current technologies can only analyse one genome at a time.

This method, to be developed by a new company called Population Genetics Technologies, is expected to significantly reduce the cost of studying large populations of genomes. Such studies are important to the discovery of genetic variations that affect common diseases and to the development of safer, more effective drugs.

The Wellcome Trust, one of the world’s leading biomedical research charities, has granted the company a £1.1m Programme Related Investment to enable it to begin development of the technology pending receipt of additional Venture Capital investments. The Intellectual Property and related patent applications underlying the technology were licensed from Compass Genetics LLC, a partnership formed several years ago by Drs Sydney Brenner, Sam Eletr and Philip Goelet.

“In order for disease research to provide more immediate benefits for society, we do not have to know everything about every gene,” said Dr. Brenner, who was awarded the Nobel Prize in Physiology or Medicine in 2002*. “What is most important is to discover the variants in genes that contribute to human disease.

“This new technology will enable users to discover extremely quickly much information about such gene variants from studies of whole populations.

“It can be used also for a broad range of complex biological problems requiring many parallel analyses. Examples are elucidating genetic changes in expressed genes in many samples of cancer, or understanding the different responses that people have to drug treatment, so as to better adapt medications to the needs of individual patients.

“For example, the technology might enable the discovery of mutations, rare in a clinical trial population, but responsible for serious deleterious side effects that are discovered only when the drug is very broadly prescribed. Patients that are potentially subject to such side effects could be screened if these mutations are determined.”

Dr Sam Eletr, co-founder of the company that developed the first and leading DNA-sequencing machines, said : “Advances in technologies designed to obtain DNA sequence information are moving at a significant pace.

“However our new method, if successful, will be a huge leap forward as it is expected to provide a significant cost advantage over other techniques which analyse one genome at a time, no matter how efficiently.

“This is because our method will allow the mixing of thousands of samples in one test tube and the simultaneous interrogation of all of them in one experiment, instead of in as many experiments as there are genomes in a population.

“Although pooling techniques that allow simultaneous analysis of multiple genomes have been used, these only provide population-wide characteristics, such as the frequency of gene variation, and not information specific to individual genomes.

“We expect our technology to allow handling much larger numbers of genomes than pooling does and to have the further advantage of protecting the identities of individuals involved in any population study by allocating them a code that may be kept confidential. We expect it also be applicable to any collection of DNA molecules and genomes, whether from plants, animals, micro-organisms or humans.”

Dr Ted Bianco, Director of the Wellcome Trust’s Technology Transfer Division, which made the award, said: “This project, which uses information gained from the Human Genome Project, aims to take this knowledge to another level.

“The scale of its parallel, simultaneous analyses could prove invaluable to programmes such as the UK Biobank Project, which will make DNA samples from 500,000 middle-aged people throughout the UK available for medical research.”

Population Genetics Technologies will be located in Cambridge, UK. Its Board of Directors will include Drs Brenner and Eletr and will be chaired by Dr Mark Treherne. Dr Eletr will be acting Chief Executive Officer until the role is permanently filled.