Patient understanding of genetic principles and their expectations of genetic services within the NHS: a qualitative study

Objectives: To explore patients' accounts of their understanding of heredity and genetic risk, the information patients believe they require to understand inherited disease, and their expectations and attitudes towards the provision of genetic services in the NHS. Method: Qualitative study using semi-structured, in-depth interviews of 19 patients with a family history of colorectal cancer referred to the Wessex regional cancer genetics clinic. Results and Interpretation: Three important themes emerged from the data: (1) Understanding genetics. (2) Making sense of genetic risk. (3) The role of primary care in genetics. Patients' understanding of genetics is often disparate from the scientific explanation, but they feel it is unnecessary to understand basic principles of genetics to make sense of their family history of cancer. When presented with genetic risk in numerical terms, patients reformulate this information and reconstruct their risk according to personal and family experiences of cancer and personal understanding of inheritance. Although not scientifically accurate, patients' conceptualisation of risk provides a framework on which to plan ways to reduce their own and their family's risk of cancer. Patients perceive general practitioners predominantly as gatekeepers to secondary care with primary care currently unprepared to deal with genetic issues. Conclusions: This study has generated some important hypotheses relating to patients' attitudes towards the role of primary care in genetics, and to communicating information about genetics and risk. Further research is required to explore the acceptability of genetic advice in primary care, and the value of discussing genetic risk in relation to patients' beliefs about inheritance.