Review of UK health screening: impending impact of genomics

29 October 2014

The Science and Technology Committee of the UK Parliament’s House of Commons has released a new report on National Health Screening - antenatal, newborn and adult screening programmes delivered free of charge by the NHS.

Screening is the offer of testing for the presence or risk of a serious disease or condition to a defined group of healthy, non-symptomatic people, based on the principle that early detection of disease can improve health outcomes. The report is the result of an inquiry launched last year; responses were received from over fifty individuals and organisations, including the PHG Foundation.

The new report, National Health Screening, notes that public perception of health screening is generally positive and expectations of screening programmes high; this was said to make it more challenging to convey the potential harms from screening. The report concludes that ‘much more’ needed to be done to ensure that risks as well as benefits were clearly communicated in a balanced fashion by both the NHS and private providers. The Committee calls for a standardised process for the production of screening information and better communications training for health professionals.

With respect to the evidence base for screening (including costs), the importance of careful review by the National Screening Committee (NSC) is emphasised. The report is critical of some screening programmes that were said to have been introduced ‘without a rigorous evidence base’ or NSC review.

Besides calling for use of a more robust and transparent evidence review process by the NSC, the report also recommends development of improved horizon-scanning capacity for relevant new technological developments; many genomic tests fall into this category. NSC Director of Programmes Dr Anne Mackie cited the example of non-invasive prenatal diagnosis as an example of previous responsiveness to emerging science by the NSC; the potential impact of this new technology on health services including antenatal screening was first highlighted by the PHG Foundation’s 2009 report, Cell-free fetal nucleic acids for non-invasive prenatal diagnosis.

The Committee also recognised the particular impact of genomic technologies and screening for rare inherited diseases, which require a special consideration with respect to evidence requirements and may raise distinct ethical, legal and social issues (ELSI). In particular, a review of the criteria for decision-making on potential genetic screening programmes is recommended.

Looking ahead, Committee chair Andrew Miller MP said: “Developments in genetic science mean that it should soon become possible to target screening programmes directly at those most of risk of certain diseases. It is imperative that the UK National Screening Committee develops its capacity for horizon scanning and ensures that proven developments in screening are supported and implemented across the NHS”.

PHG Foundation Director Dr Hilary Burton, who gave evidence to the inquiry on screening, said that she was pleased by the attention paid to the Foundation’s work on stratified screening for cancer and how this would impact on health systems, adding: “We were very clear, as were other witnesses, that risk stratification would become a reality in screening programmes and so we welcome the Committee’s  strong recommendation that the NSC and the NHS should look at how such developments would be supported and a wider commitment to achieving some formal mechanism for horizon scanning for the Committee”.

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