For some common disorders (cancer, cardiovascular disease (CVD)) monogenic subtypes exist where variants in one gene increase the risk substantially, and interventions are available to prevent mortality and morbidity. After identifying an affected index case, first-degree relatives often are still healthy but have a 50% risk of carrying the gene variant. In the last decade in theory possibilities for DNA testing to early identify high-risk relatives have increased, but few systematic cascade screening programmes have been developed. In this chapter, we will provide theoretical background for sociotechnical analysis, and elaborate the potential of increased efforts to identify people who carry an inherited predisposition to develop cancer (esp. Lynch Syndrome (LS)) or CVDs (esp. Familial Hypercholesterolaemia (FH)). The theoretical framework serves to clarify roles and responsibilities in efforts to improve aspects of healthcare. In a changing culture (especially moving from cure to prevention) structural changes may be needed (e.g. allowing non-genetic healthcare providers to order genetic tests) and practice needs to be differently organised. Silo structures tend to restrict the focus of medical specialists to the individual patient. To systematically inform relatives, the experience of clinical genetics could be used in other sectors of healthcare. The responsibility to protect the health of the public could result in a public health screening programme for healthy relatives. Responsible implementation of such a cascade screening programme does not occur without a deliberate effort.
|Name||SpringerBriefs in Public Health|