Genetic screening: a conceptual framework for programmes and policy-making

Policy-makers are faced with increasing pressures from a range of different stakeholders to introduce or expand genetic screening programmes. A shared understanding is therefore needed of the many factors influencing these complex policy decisions. Our aim was to develop a theoretical framework that highlights the multiple components and influences involved in genetic screening and the policy-making process.

As part of a larger research programme, existing policy frameworks relating to genetic screening were identified through a review of the literature. Major themes were identified and synthesized into an overarching framework, which was further refined through discussions with key informants.

The framework consists of three parts. The first part conceptualizes genetic screening as an integrated public health programme. The second part describes the policy-making process at each stage in the life cycle of the programme. The third part depicts the broader context within which policy-making occurs.

This framework can support policy-makers by fostering a common understanding and facilitating dialogue with stakeholders. The framework has also been used as the conceptual foundation for the development of a more elaborate decision-guide.