Genetic testing for pheochromocytoma and paraganglioma: SDHx carriers' experiences

Autores da FMUP

• Irene Maria Palmares Dias Carvalho

  Autor

Participantes de fora da FMUP

• Martins, RG

Unidades de investigação

• Laboratório Associado RISE- Rede de Investigação em Saúde

  

  Investigador

  Fernando Carlos De Landér Schmitt

• Neurociências Clínicas e Saúde Mental

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

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.

Keywords

• carrier testing; genetic testing; hereditary cancer; lived experience; paraganglioma; pheochromocytoma