Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study.

Autor: Klatte DCF; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands., Onnekink AM; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands., Hinnen C; Department of Medical Psychology, Leiden University Medical Center, Leiden, The Netherlands., van Doorn R; Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands., Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Leerdam ME; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Gastrointestinal Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Bleiker EMA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.; Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Journal of genetic counseling [J Genet Couns] 2024 Oct; Vol. 33 (5), pp. 1059-1069. Date of Electronic Publication: 2023 Oct 25.
DOI: 10.1002/jgc4.1820
Abstrakt: Individuals with a germline CDKN2A pathogenic variant (PV) are at high risk of developing melanoma and pancreatic cancer and are therefore offered surveillance. The potential advantages and disadvantages associated with genetic testing and surveillance are discussed during medical counseling, although little is known about the associated psychosocial factors that are relevant to this population. This study sought to provide a qualitative exploration of psychosocial factors related to genetic testing and participation in skin and pancreatic surveillance in (potential) carriers of a CDKN2A PV. Fifteen individuals-both at-risk individuals and confirmed variant carriers-participated in one of the three online focus groups. Pre-defined discussion topics, including genetic testing, cancer surveillance, influence on lifestyle and family planning, were discussed. Patients reported that important reasons to engage in genetic testing included the possibility to participate in surveillance to gain control over their cancer risk and to get clarification on the potential carrier status of their children. We observed considerable differences in risk perception and experienced burden of surveillance. Knowledge of the PV has had a positive influence on lifestyle factors and altered attitudes toward life in some. Most participants were not aware of preimplantation genetic testing. This focus group study provided insight into a variety of psychosocial themes related to (potential) carriership of a CDKN2A PV. Future efforts should focus on identifying those who may benefit from additional psychosocial support, development of a centralized source of information, and assessing the knowledge, needs, and timing of counseling for family planning.
(© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)
Databáze: MEDLINE
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