This blog by PHG Foundation director, Dr Hilary Burton, first appeared on BMJ Blogs on 21 June 2016
Personalised medicine has become the “holy grail” of modern medical research and has been embraced by policy makers and healthcare providers as a route to more satisfied patients, more effective and efficient health services, potentially even reducing demand through more effective prediction and prevention of disease. But what do today’s health professionals make of this, beyond their belief that they already provide personalised care—choosing the best treatment according to a patient’s particular medical and social circumstances and reaching agreement jointly with the patient about the best management strategy?
Many have not yet caught up with the facts that modern molecular and other biomedical and digital technologies, together with an explosion in biological understanding have produced an extraordinary “gear change” in our ability to provide personalised care. Genomic technologies now enable an understanding of disease at a molecular level and have led to treatments tailored according to the exact mechanisms of disease—for example targeting a cell receptor that may be present in some forms of disease. It is possible now to predict disease risk by identifying individuals with familial diseases such as familial hypercholesterolaemia; to diagnose disease in detail and choose the most appropriate treatment as in cardiac arrhythmias such as long QT syndrome or various inherited cardiomyopathies; to identify the most effective drug treatment in a range of cancers based on their molecular signature and to track response to treatment or even emergence of resistant cancer cells through analysis of small amounts of circulating tumour DNA; or to distinguish between various forms of diabetes, particular in the newborn or children, where Maturity Onset Diabetes of the Young (MODY) requires treatment with sulphonylureas rather than with insulin.
Many have not yet caught up with the facts that modern molecular and other biomedical and digital technologies, together with an explosion in biological understanding have produced an extraordinary “gear change” in our ability to provide personalised care
It is not enough that these technologies may be used in centres of excellence or research facilities. The potential is so large that, for maximal effect, new practices must be adopted in every hospital, clinical specialty and health service in the country including primary care. These will require the adoption of new clinical pathways, with provision of guidance on who to test and support to interpret tests to avoid risks of overdiagnosis and overtreatment of patients. Even if clinicians are not themselves using new tests, they will most probably be supporting patients who are facing new decisions in the course of their clinical pathway or responding to concerns from family members who may have inherited the same genetic changes and so also be at risk. They must be able to provide information and support along the way.
Realising the breadth of the task if all clinical specialties are to be prepared for personalised medicine, in 2013 a Working Group was set up under the aegis of the Royal College of Physicians in London. Lead by the PHG Foundation (an independent policy organisation focused on the realization of genomic technologies for better patient care) and supported by a group of “clinical champions” from a range of specialties, its first task has been to develop brief introductory resources tailored to each specialty and each providing illustration of the potential for genomic-based personalised care across the range of rare inherited disease, common complex disease, relevant cancers or pharmacogenetic (gene-guided) choice of drug treatments in that specialty. The resources also highlight associated ethical, legal and social issues, such as consent, management of data or handling uncertain or unexpected findings from genomic tests and signpost to additional information sources.
The resources are all available on here.
These are exciting times for clinical practice as the benefits of the recent vast investments in genomic and clinical research can finally be grasped. We hope that these resources will stimulate a whole new range of clinicians, in early and late stages of their careers to get involved in this visionary new agenda.