Risk and prevention
Examining strategies for disease risk evaluation and prevention (e.g. newborn genome screening and polygenic risk scores).
Screening aims to identify medical conditions before symptoms emerge, allowing for early intervention or preventative measures aiming to keep people healthy. In the past, screening approaches have often applied a one-size-fits-all approach to entire populations. In contrast, ‘personalised’ screening approaches use individualised risk predictions to tailor screening recommendations for specific individuals or groups, aiming to enhance screening outcomes as well as optimising resource allocation. While a variety of data can inform risk predictions, there has been considerable recent interest in using genetic information for this purpose.
However, optimism about the possible benefits of bringing genomic technology into population screening can obscure some of the harms. For example, uncertainties about disease diagnosis, severity, or age of onset, may be amplified rather than reduced by increasingly sophisticated technology, and the clinical management of disease risk is often more problematic than the treatment of an overt disorder. Headline figures of increased relative risks often translate to modest absolute risks, and attempts to predict phenotype from genotype may create rather than remove diagnostic ‘odysseys’.
The CPM is exploring the potential benefits and challenges of personalised risk assessment and
prevention approaches.
2024/25 topic: Newborn screening
