British doctors and scientists are to be given unprecedented access to the latest DNA technology for medical research, through a national network of centres that could improve the diagnosis and treatment of many diseases.
Three regional “genetics hubs” will allow medical researchers and clinicians to use new methods of reading the human genome to deliver better patient care, and give fresh insights into how DNA influences health.
Transplant patients could be among the first to benefit from the £7 million investment by the Medical Research Council (MRC), through a project to investigate how better genetic sequencing could match them more quickly and accurately to suitable donors.
Other studies will evaluate the technology’s potential for prenatal diagnosis of Down’s syndrome, and for identifying inherited genetic mutations that can cause breast cancer, colon cancer and kidney and eye disorders.
The three hubs, in Cambridge, Liverpool and Edinburgh, will also provide a resource for studying the genetic factors that contribute to mental illnesses, and infectious diseases such as malaria and the antibiotic-resistant bacteria Clostridium difficile.
“This initiative will engender innovative ways of working and enable new and exciting discoveries,” John Jeans, chief operating officer of the MRC, said. “We hope the hubs will allow scientists to ask increasingly precise questions about diseases, and gather answers that were undreamt of only a decade ago.”
A new generation of “high-throughput” genome sequencing machines developed over recent years now allow scientists to read large swathes of DNA quickly, cheaply and accurately, with important applications for medical research.
The hubs will add significantly to the UK’s sequencing capacity, providing a “one-stop shop” for researchers and clinicians. Teams of specialists will also be available to advise and collaborate with scientists who have not used sequencing data before.
The East of England hub in Cambridge plans to collaborate with doctors at Addenbrooke’s Hospital and with the NHS Blood and Transplant service to develop high-throughput sequencing as a diagnostic tool. “It’s not just that we have to provide a service for the research community, we also want to investigate how we might bring high-throughput sequencing to the NHS,” said Professor John Todd, of the University of Cambridge, who is principal investigator for the East of England hub.
High-throughput sequencing could be used to determine the tissue type of patients who need a bone marrow, blood stem cell or organ transplant more quickly and precisely, to find them the best possible match.
“We became excited as we began to realise the potential opportunities and the possibilities to facilitate transplantation of organs and bone marrow/stem cells,” Professor Todd said. “I’m hopeful it could replace current tissue typing, to make it much more accurate and high-resolution.”
The Cambridge hub will also evaluate fast sequencing of inherited mutations in genes such as BRCA1 and BRCA2, which can raise the lifetime risk of developing breast cancer to 80 per cent. Jo Whittaker, director of Genetics Laboratories at Addenbrooke’s, said that the technology could improve the speed and accuracy of test results, which can be critical for identifying family members of patients who carry the same mutations.
It could also be useful in diseases such as retinitis pigmentosa, an inherited eye condition that leads to blindness, which is difficult to test for as it can be caused by several different mutations. Another project at the Cambridge hub will evaluate methods of testing the blood of pregnant women for foetal DNA. This could potentially allow prenatal diagnosis of Down’s syndrome without amniocentesis, an invasive test that can cause miscarriage.
Mark Blaxter, of the University of Edinburgh, who is principal investigator of the Scotland Hub, said: “This investment from the MRC will allow us to support and underpin world-leading genetics research across Scotland and beyond, working with MRC researchers investigating issues such as familial cancers, psychiatric disease and the genomics of pathogens such as E. coli, C. difficile and malaria.”
Professor Neil Hall, of the University of Liverpool and principal investigator of the North of England Hub, said: “There is a pressing need to understand the basis of genetic variation and to use it to define the most appropriate treatment for each patient with a particular condition.