To determine 1) the psychological distress and quality of life, and 2) the psychosocial impact of the pathogenic germline CDKN2A variant on lifestyle, genetic testing, skin, and pancreatic surveillance, and family planning in PV carriers and their…
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
- Anxiety disorders and symptoms
- Family issues
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
First, the questionnaire aims to explore the psychological distress and quality
of life by validated questionnaires including CWS, HADS, and SF-12. Second, the
psychosocial impact on lifestyle, genetic testing, skin and pancreatic
surveillance, and family planning is examined by both self-developed and
validated questionnaires (PAHC, DCS).
Our primary objectives are:
- To investigate the quality of life and psychological distress in CDKN2A PV
carriers and their first-degree relatives;
- To assess the psychosocial impact of the CDKN2A PV on daily life, with
regards to the following four themes: 1) lifestyle, 2) genetic testing, 3) skin
and pancreatic screening, and 4) family planning.
Secondary outcome
- To investigate whether psychosocial outcomes differ between CDKN2A PV
carriers and first-degree relatives;
- To identify individuals who may benefit from additional psychological support.
- To develop a website and decision aid to help PV carriers and first-degree
relatives with complex choices associated with the PV, such as engagement in
genetic testing and cancer screening, lifestyle, and family planning.
Background summary
Individuals with a germline CDKN2A pathogenic variant (PV) have an increased
lifetime risk of 70% to develop melanoma of the skin and 20% to develop
pancreatic cancer. While skin surveillance is offered to CDKN2A PV carriers and
their first-degree relatives, who are at a 50% risk of carrying the mutation,
pancreatic screening is reserved for those with a proven pathogenic CDKN2A
variant. Screening for cancer may be psychologically burdensome and lead to
increased cancer worries. In addition, genetic testing and knowledge about
one*s genetic risk profile may have a negative psychosocial impact on daily
life. Accordingly, PV carriers and their first-degree relatives may experience
impaired quality of life with psychological distress about their own and
relatives* cancer risk. Literature on the psychosocial impact of the CDKN2A
mutation carriership is scarce.
A recent focus group study conducted by our work group among PV carriers and
their first-degree relatives demonstrated different perceptions and attitudes
toward four themes; 1) lifestyle, 2) genetic testing, 3) skin and pancreatic
surveillance, and 4) family planning. However, a quantitative analysis of
quality of life and psychosocial distress in a large cohort of proven and
potential PV carriers has never been conducted.
Study objective
To determine 1) the psychological distress and quality of life, and 2) the
psychosocial impact of the pathogenic germline CDKN2A variant on lifestyle,
genetic testing, skin, and pancreatic surveillance, and family planning in PV
carriers and their first-degree relatives. The results will be used to develop
a website with an online decision-aid tool for PV carriers and their family
members.
Study design
Observational cross-sectional questionnaire-based study.
Study burden and risks
Individuals are asked to complete a questionnaire at home, which will take
around 45 minutes. No invasive procedures or clinical tests are required for
this study. Consequently, no risks are associated with participation.
Albinusdreef 2
Leiden 2333 ZA
NL
Albinusdreef 2
Leiden 2333 ZA
NL
Listed location countries
Age
Inclusion criteria
- 18 years or older
- Written informed consent
- Proven CDKN2A PV carrier (confirmed by positive genetic test result)
OR
- CDKN2A risk carrier (50% chance of carrying the PV; genetic status not [yet]
confirmed by genetic testing)
- Participation in the LUMC skin and/or pancreatic surveillance program
Exclusion criteria
Individuals that are not able to read or understand Dutch will be excluded from
participation in this study.
Design
Recruitment
metc-ldd@lumc.nl
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL82652.058.22 |