Early Identification of Cancer Risk: Universities of Cambridge (UK) and Western Australia.
AP Benson has now completed a project with Dr Jon Emery, Professor Stephen Sutton and Dejana Braithwaite at the Institute of Public Health, University of Cambridge (UK). Jon and Steve's groups work from the Forvie Site, just next door to the world famous Addenbrookes teaching hospital on the outskirts of Cambridge.
Their research interests revolve around the place of genomics diagnostics in primary care, principally in the UK, although he works with research collaborators in the USA. Jon, Steve and Dejana are interested in how the benefits that are promised by genomics research can be applied where it matters - when the patient meets the clinician.
Between 5 and 10% of breast and bowel cancers can now be traced back to a family history of the disease. Some of the individual genes that predispose people to these diseases have now been identified, for example the so called "BrCa" (Breast Cancer) genes and groups of genes associated with the FAP and HNPCC bowel cancer syndromes. The clear patterns that show how these diseases "run in families" can now be explained using our underlying knowledge of the genes that contribute to the appearance of the disease.
The question is, however, "how should the medical profession use this type of information in working with their patients?" The torrent of new associations between patterns of diseases in families, the genes that contribute to the occurrence of those diseases and the tests, treatments and (often) lifestyle changes available to identify and manage disease risk is a huge challenge to the medical profession.
Jon Emery says that, "a number of companies, including FamilyGenetix, have, historically, produced software that is used by senior clinicians, such as our colleague Cyril Chapman, to help manage families with recognized genetic problems. These tools have been aimed at expert users, like Cyrillic, and can be very helpful in guiding treatment decisions in those families."
"Our interest, however," Jon said, "is in how we can extend the usefulness of tools like FamilyGenetix' Cyrillic product so that they can be used in preventative medicine by our colleagues at the General Practitioner level."
"There is great potential for an early recognition of a genetic predisposition to be picked up in Primary Care, almost as a routine part of the GP's work. The problem today is that to keep up with genetic medicine and to take the time needed to gather the detailed family histories that can help in finding genetic predisposition is beyond the scope of the busy GP."
In addition, the busy GP will often send patients whose realistic risk of having a predisposition is, in fact, pretty low. Few GPs can be confident about saying if a specific family history is a sign of an underlying problem or not.
AP Benson's Craig Livingstone worked with Dr. Emery and his colleagues to use the latest software from FamilyGenetix, a subsidiary of AP Benson, called "GRAIDS" (Genetic Risk Assessment by Internet with Decision Support). GRAIDS was used in a decision support trial with General Practitioners in the Cambridgeshire region of the UK. The aim was to see if a new system, designed to help GPs gather detailed family histories from patients, can be used to guide the GP in deciding if their patients have an increased risk for, say, breast cancer over that of the general population.
Craig said, "GRAIDS was developed for a FamilyGenetix project with Kaiser Permanente in Northern California, in which I was involved. It is capable of gathering a lot of information about a family that can be used in both identifying a potential problem and then for helping in the management of the patient's and their family's risks of developing inherited disease. The software was originally used to follow the course of disease in patients with inherited cholesterol problems, helping clinicians manage patients' overall risk of heart disease and stroke. It's great to have the opportunity of extending GRAIDS so that it can be used with people who may have an inherited problem predisposing them to cancer."
Dr Emery was a practising general practitioner in Cambridge which he combined with research into the clinical application of genetic medicine in primary care, and the use of computer decision support to aid risk assessment and communication. He has worked previously as a Cancer Research Campaign research fellow in the Department of Public Health and Primary Care, University of Oxford and as a general practitioner in Bath. He is a member of the Royal College of General Practitioners. Dr Emery has published several papers on genetic medicine, in particular cancer genetics, and the use of computer decision support in primary care. He is married with two children and has recently taken the post of Professor of General Practice at the University of Western Australia.
The GRAIDS trial involved 45 GP practices in Eastern England. The initial project ended in September 2005, but was continued with the now Professor Emery following his appointment at the University of Western Australia in Perth, with the development of the "CyrillicServer" product for remote delivery of clinical genetic services in primary care. This work has now been reported in a number of published scientific papers.
This Cambridge-based research is funded by the Cancer Research UK research charity.