Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result

Adrià López-Fernández, Guillermo Villacampa, Mònica Salinas, Elia Grau, Esther Darder, Estela Carrasco, Ares Solanes, Angela Velasco, Maite Torres, Elisabet Munté, Silvia Iglesias, Sara Torres-Esquius, Noemí Tuset, Orland Diez, Conxi Lázaro, Joan Brunet, Sergi Corbella, Judith Balmaña

Research output: Indexed journal article Articlepeer-review

2 Citations (Scopus)


Clinical and familial factors predict psychological distress after genetic testing for cancer susceptibility. However, the contribution of an individual's psychological background to such distress is unclear. This study aims to analyze the psychological impact of genetic testing and to identify the profile of individuals at higher risk. This is a longitudinal multicenter study of individuals undergoing genetic testing for cancer susceptibility. Demographic, clinical, genetic, familial, and psychological (personality types, cancer worry) characteristics were assessed by validated questionnaires the day of genetic testing. Distress, uncertainty, and positive experience perception (MICRA scale) were evaluated at the results disclosure visit, and 3 and 12 months afterwards. Multivariate analysis was performed. A total of 714 individuals were included. A high neuroticism score, high baseline cancer worry, and a positive genetic test result were independently associated with higher psychological impact (p-value < 0.05). The highest risk profile (10% of the cohort) included women with high level of neuroticism and a positive result. Uncertainty was mainly associated with a high level of neuroticism, regardless of the genetic test result. A holistic approach to personalized germline genetic counseling should include the assessment of personality dimensions.

Original languageEnglish
Pages (from-to)778-787
Number of pages10
JournalJournal of Genetic Counseling
Issue number4
Publication statusPublished - Aug 2023


  • genetic counseling
  • genetic testing
  • hereditary cancer
  • neuroticism
  • personality traits
  • psychological impact


Dive into the research topics of 'Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result'. Together they form a unique fingerprint.

Cite this