Genetic testing for pheochromocytoma and paraganglioma: SDHx carriers' experiences

• Type: Article in International Scientific Journal
• Date: 2021

Authors

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

Journal

Title: Journal of Genetic Counseling

Vol. 30

Pages: 872-884

ISSN: 1059-7700

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 2 Citations

ISI Web of Science

Scopus - 2 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 13