Does better diagnosis lead to better treatment?
It is widely acknowledged that it can be hard to translate research findings into changes in clinical practice. How can we ensure that research makes a real impact on population health?
Institute member, the PHG Foundation, addresses this issue by providing leadership in policy and strategy development for the implementation of emerging science in healthcare. The Foundation evaluates the outputs from biomedical research and their implications for health systems, and works with policy makers and service providers in the UK and internationally to tackle some of the barriers that delay translation into clinical practice.
The Foundation’s recent work in the field of inherited cardiac conditions provides a good example of this approach. These disorders are a significant cause of preventable ill-health and sudden death amongst young people and adults, affecting more than 300,000 people in the UK. They range from relatively common conditions such as familial hypercholesterolaemia (inherited high cholesterol) and hypertrophic cardiomyopathy (the leading cause of sudden death in young athletes), to rarer diseases such as long QT syndrome (a heart rhythm disorder).
Despite genomics research presenting a burgeoning repertoire of diagnostic tests, clinicians were saying that patients with inherited cardiac conditions were not able to access the technologies which would allow much better, targeted treatment for them and their families.
The PHG Foundation convened a group of cardiologists and geneticists, NHS commissioners and managers, the British Heart Foundation and the patient support organisation SADS (Sudden Arrhythmic Death Syndromes) UK. Together they carried out a review of the state of both the science and current service provision in the UK, revealing a serious shortfall in capacity to meet existing patient needs, let alone the anticipated growth in demand resulting from improved diagnosis. They also found serious inequalities in the quality and availability of services across the country, with specialist genetics input to cardiology being in particularly short supply.