Genetic testing for pheochromocytoma and paraganglioma: SDHx carriers' experiences

• Tipo: Artigo em Revista Científica Internacional
• Data: 2021

Autores

R Martins (Autor) FMUP; IP Carvalho (Autor) FMUP

Revista

Título: Journal of Genetic Counseling

Vol. 30

Páginas: 872-884

ISSN: 1059-7700

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 2 Citações

ISI Web of Science

Scopus - 2 Citações

Outras Informações

ID Authenticus: P-00T-HNA

DOI: 10.1002/jgc4.1390

Abstract (EN): Pheochromocytoma and paraganglioma are frequently hereditary tumors commonly associated with succinate dehydrogenase (SDHx) pathogenic variants (PV). Genetic testing is recommended to relatives of patients carrying SDHx PV. This study aims to explore the experiences associated with genetic testing for this hereditary condition. Semi-structured interviews with 38 SDHx PV (tumor-affected and non-affected) carriers were transcribed and content-analyzed. Four ways of living with this genetic alteration emerged from the interviews: 'living as if not knowing', 'preventing others from going through this', 'feeling privileged', and 'still suffering'. Within each, negative, neutral, and positive reactions to the actual test result emerged initially, in addition to blame and guilt. Recognition of the importance of the genetic test and of the follow-up occurred in all four, but views on fecundity were divided between having and not having children. Consideration for the four different meanings of carrying an SDHx PV can improve participants' experiences and clinical practice.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 13