Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): A questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available
2008

Acceptability of Genetic Testing for Paget's Disease

Sample size: 516 publication Evidence: moderate

Author Information

Author(s): Anne L Langston, Marie Johnston, Jill Francis, Clare Robertson, Marion K Campbell, Vikki A Entwistle, Theresa Marteau, Graeme MacLennan, John Weinman, Marilyn McCallum, Zosia Miedzybrodska, Keith Charnock, Stuart H Ralston

Primary Institution: University of Edinburgh

Hypothesis

Would relatives of people with Paget's disease accept genetic testing and preventive treatment if available?

Conclusion

The study aims to assess the acceptability of genetic testing and preventive treatment among relatives of individuals with Paget's disease.

Supporting Evidence

  • Paget's disease affects about 2% of individuals over the age of 55 in the UK.
  • Genetic factors play a significant role in Paget's disease, with mutations identified in several genes.
  • The study will use established models of social cognition to explore acceptability.

Takeaway

This study is trying to find out if family members of people with Paget's disease would be okay with getting tested for it and possibly taking medicine to prevent it.

Methodology

A postal questionnaire study targeting non-affected relatives of Paget's disease patients to assess factors influencing the acceptability of genetic testing and preventive treatment.

Potential Biases

Potential biases may arise from self-selection of participants and the subjective nature of self-reported measures.

Limitations

The study may not account for all demographic variations and relies on self-reported data.

Participant Demographics

Relatives of Paget's disease patients, including those with and without a family history of the disease.

Digital Object Identifier (DOI)

10.1186/1472-6963-8-116

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