Incorporating genomics in health screening programmes

24 April 2014

Screening is defined as a process by which something is evaluated to determine suitability for a specified role or purpose. In the medical context, screening is a unique strategy by which populations are evaluated to identify the presence of undetected or pre-symptomatic disease. Screening tests therefore differ from other forms of medical testing because they are used on people in apparent good health.

New and emerging genomic technologies offer great potential to expand and improve current screening programmes and thus improve population health. However, questions have been raised over whether current systems for evaluation of potential health screening programmes are suitable for new technologies.

The House of Commons Science and Technology Committee recently held an inquiry on the scientific merits of national health screening programmes, and whether current calls to extend existing programmes for new indications such as prostate cancer are based on robust evidence.

The PHG Foundation welcomed this review and submitted a response with three key recommendations to ensure that such screening programmes are able to take full advantage of the benefits genomic knowledge and applications can offer:

Improving the evidence base

The PHG Foundation’s response urges a review of screening criteria for rare inherited diseases and other genetic conditions, and recommends the establishment of a separate body (in addition to the current National Screening Committee) with an ongoing responsibility to review the ethical aspects of screening more generally.

Cross-disciplinary advice

The breadth of decision-makers who advise the government on new screening programmes should widen to ensure it specifically includes individuals with an understanding of genomics at the population level.

Assigned body to consider alternatives

The PHG Foundation further recommends that a specific organisation should have the responsibility to consider alternatives for effective screening tests that are not deemed appropriate for a national screening programme.

The rationale behind these recommendations is set out in full in our response to the Science and Technology Committee.

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