Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone)

an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?

Anne L Langston, Marie Johnston, Clare Robertson, Marion K Campbell, Vikki A Entwistle, Theresa M Marteau, Marilyn McCallum, Stuart H Ralston

Research output: Contribution to journalArticle

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Abstract

Background
Paget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures.

Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB.

Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential.

Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment.

Methods/design
This study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:

1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment?

2. What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment?

Discussion
Our research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.
Original languageEnglish
Article number71
Number of pages9
JournalBMC Health Services Research
Volume6
Issue number71
DOIs
Publication statusPublished - 8 Jun 2006

Fingerprint

Osteitis Deformans
Genetic Testing
Interviews
Therapeutics
Research
Psychological Theory
Bone and Bones
Genetic Research
Behavior Control
Bone Remodeling
Bone Diseases
Deafness
Skeleton
Osteoarthritis

Keywords

  • familial aggregation
  • mutations
  • SQSTM1
  • responses
  • trial

Cite this

@article{c7baa44257a842c2b37062b700cc8fe5,
title = "Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?",
abstract = "BackgroundPaget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures.Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB.Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential.Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment.Methods/designThis study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment?2. What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment?DiscussionOur research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.",
keywords = "familial aggregation, mutations, SQSTM1, responses, trial",
author = "Langston, {Anne L} and Marie Johnston and Clare Robertson and Campbell, {Marion K} and Entwistle, {Vikki A} and Marteau, {Theresa M} and Marilyn McCallum and Ralston, {Stuart H}",
year = "2006",
month = "6",
day = "8",
doi = "10.1186/1472-6963-6-71",
language = "English",
volume = "6",
journal = "BMC Health Services Research",
issn = "1472-6963",
publisher = "BioMed Central",
number = "71",

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TY - JOUR

T1 - Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone)

T2 - an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?

AU - Langston, Anne L

AU - Johnston, Marie

AU - Robertson, Clare

AU - Campbell, Marion K

AU - Entwistle, Vikki A

AU - Marteau, Theresa M

AU - McCallum, Marilyn

AU - Ralston, Stuart H

PY - 2006/6/8

Y1 - 2006/6/8

N2 - BackgroundPaget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures.Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB.Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential.Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment.Methods/designThis study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment?2. What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment?DiscussionOur research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.

AB - BackgroundPaget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures.Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB.Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential.Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment.Methods/designThis study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment?2. What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment?DiscussionOur research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.

KW - familial aggregation

KW - mutations

KW - SQSTM1

KW - responses

KW - trial

U2 - 10.1186/1472-6963-6-71

DO - 10.1186/1472-6963-6-71

M3 - Article

VL - 6

JO - BMC Health Services Research

JF - BMC Health Services Research

SN - 1472-6963

IS - 71

M1 - 71

ER -