Acceptability of genetic testing and preventative treatment in Paget's disease: psychological and clinical predictors

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Paget‘s disease of bone is a common condition, affecting about 3% of individuals over the age of 55 years in the UK. Genetic factors play an important role and recent studies have shown that mutations in the SQSTM1 gene are responsible for about 50% of cases of familial Pagets disease. These mutations are highly penetrant such that more that 90% of carriers develop the disease by the age of 65 years. This knowledge might be translated into clinical practice by offering subjects who carry SQSTM1 mutations prophylactic therapy in an attempt to prevent the disease occurring, or to prevent complications developing. However, before offering such treatment, its acceptability to patients needs to be established. This project uses behavioural science models to investigate what would be acceptable and to whom. We predict that acceptability will be influenced by:
1. Individuals? beliefs about Pagets disease;
2. Their experience of Pagets disease;
3. The nature of the preventive treatment offered; and
4. Their beliefs about participating in genetic testing and preventive treatment.
Using the Self-Regulation Model (SRM), we will investigate how genetic information and preventive opportunities affect self-regulation via illness representations. Using the Theory of Planned Behaviour (TPB), we will investigate how uptake of the offer of genetic testing and treatment is predicted by the same constructs used to predict behaviour in other treatment settings. The first stage of the project involves interviews with people with Pagets disease and their families to identify optimal methods of offering genetic testing and preventive treatment. It will inform the development of questionnaires for the second stage. In the second, quantitative, stage relatives of people with Pagets disease will complete questionnaires based on the SRM and TPB. These data along with demographic information and clinical information about the person with Pagets disease, will be used to predict uptake of an offer of genetic testing and preventive treatment. The results of this project will be used to inform the design of a prospective randomised controlled trial to investigate the efficacy of prophylactic bisphosphonate therapy in people who carry SQSTM1 mutations. This project also provides added value in that it will inform the development of a template for offering genetic testing together with prophylactic treatment, which will be generalisable to other diseases. It will also contribute to ongoing work on understanding behaviour related to illness.