Organizational profile: PHG Foundation.

The PHG Foundation is an independent, nonprofit think tank dedicated to making science work for health. Originally founded to imagine a future where genomics would underpin the practice of both medicine and public health, the Foundation's focus is now on preparing for the future of personalized medicine, including forms of personalized disease prevention and early detection. A panoply of rapidly emerging scientific applications and technologies could be used alongside genomics to enable a fundamental shift toward increasingly effective and sustainable, person-centered health and care. Developing policy to anticipate and accelerate the uptake of such innovations into clinical and public health practice is more important than ever, and supporting the work of the All Party Parliamentary Group on Personalised Medicine is part of this effort.

Familial hypercholesterolaemia: a pressing issue for European health care.

The recent European Atherosclerosis Society (EAS) guidelines for the management of familial hypercholesterolaemia (FH) succinctly reiterate the under-diagnosis and poor management of this common genetic disorder, which is associated with greatly increased mortality from coronary heart disease (CHD), especially in young people. The prevalence of FH is thought to be between 1/500 and 1/200, and thus in Europe 1.8-4.5 million individuals have FH. In most European countries including the UK, fewer than 15% of cases have been identified to date, amounting to over 100,000 undiagnosed cases in the UK alone. There are a number of issues that have impeded the implementation of FH diagnostic and management guidelines in Europe; here, we briefly review the current situation in the UK, and propose ways to start to break down implementation barriers that may be applicable across Europe. Despite guidelines by the UK National Institute of Health and Clinical Excellence (NICE) published in 2008 that recommend genetic testing of index cases and cascade screening of their family members, and the recent NICE Quality Standards for management of FH (QS41), there has been little action towards systematic diagnosis in England despite implementation of systematic screening programmes in Scotland, Wales, Northern Ireland and in other selected countries in Europe. This is surprising because early treatment with statins provides an effective and cheap treatment that reduces mortality to near that found in the normolipidaemic population. With increasing emphasis on preventive medicine and genetic diagnosis across the medical specialties, FH is a clear example of how new genome technologies can - and should - be deployed now for the benefit of patients.

Genetic screening for cystic fibrosis: an overview of the science and the economics.

The aim of this paper is to provide an overview of the current scientific and economic thinking on the use of genetic technologies for cystic fibrosis (CF) screening. The paper takes a public health genetics viewpoint and gives an overview of the genetics behind CF, then describes current practices in screening for the disease. We then discuss the current literature on the economic evaluations of screening for CF. As the "wet" science improves, there are direct implications for health service. Therefore, it is important to keep examining both clinical practice and economics behind the technologies.

Clinical management where medicine meets management. Array of hope.

Routine use of genetic profiling for managing some cancers could soon be a reality. Its wider application in cancer care will require substantial public investment in research and development, IT and setting up a service infrastructure. The first commercial test kits for breast cancer prognosis have already been launched in Europe and the US.