Genetic testing for pheochromocytoma and paraganglioma: SDHx carriers' experiences.

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.

Pheochromocytoma and paraganglioma genetic testing: Psychological impact.

OBJECTIVE: Genetic testing is recommended for all pheochromocytoma/paraganglioma tumor-affected patients and, if positive, for their relatives, who are at risk of developing tumors. This study aims to assess the previously unexamined psychological impact of genetic testing and identify factors associated with this impact. METHOD: A nationwide sample of 103 individuals carrying succinate dehydrogenase mutations answered the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire plus two measures of general well-being (the SF-36 Health Survey and the Hospital Anxiety and Depression scale). Sociodemographic, clinical, and personality characteristics (the 5 personality factors and locus of control) were also assessed. Data were analyzed with bivariate and GLM univariate analyses. RESULTS: Genetic testing-related mean scores were 6.12 for Distress, 11.58 for Uncertainty, 10.61 for Positive experiences, and almost 30% of the sample displayed high MICRA global suffering. Tumor-affected participants whose neoplasia was identified through presymptomatic screening felt that the genetic test has made it easier to cope with their disease. Significant aspects associated with genetic-testing-related Distress and Uncertainty included higher levels of Neuroticism and Agreeableness. An interaction between having the neoplasia and having children was also associated with higher levels of Distress. Education and Conscientiousness were associated with Positive experiences. Affected mutation carriers presented lower global quality of life and higher anxiety and depression levels than healthy mutation carriers. CONCLUSIONS: Genetic testing's impact depends on individual characteristics. The identified characteristics can inform clinical practice regarding who might benefit from special care in genetic counseling. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

Psychometric Properties of the MICRA Questionnaire in Portuguese Individuals Carrying SDHx Mutations.

This study aims to present the translation and cultural adaptation, as well as the psychometric characteristics of the Portuguese version of the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire in individuals with SDHx mutations. The questionnaire was translated and culturally adapted in accordance with the process recommended by the World Health Organization. As per suggestion of the authors of the original instrument, a joint, universal European and Brazilian Portuguese version of the MICRA was created. Ninety-six (asymptomatic or affected) patients with SDHx mutations nationwide completed the adapted version of the MICRA in Portugal. Analyses consisted of confirmatory factor analysis, reliability estimation (alphas), and correlations with two other distress and quality of life instruments. The Portuguese adaptation of the MICRA was understandable to patients from various socioeconomic backgrounds. All items and factor structure of the original version were retained, yielding a good model fit. The MICRA's three subscales and total score showed good internal consistency, and the correlations found between the Portuguese version of the MICRA and the other instruments assessing similar constructs further supported its validity. The adapted version of the MICRA showed good psychometric properties with a representative population of SDHx mutation carriers. This instrument can now be used to study the multidimensional impact of taking a genetic test for these mutations. It can also be used in future studies with other Portuguese populations of patients submitted to genetic tests for cancer risk assessment.

Breaking bad news: patients' preferences and health locus of control.

OBJECTIVE: To identify patients' preferences for models of communicating bad news and to explore how such preferences, and the reasons for the preferences, relate with personality characteristics, specifically patients' health locus of control (HLC): internal/external and 'powerful others' (PO). METHODS: Seventy-two patients from an oncology clinic watched videotaped scenarios of a breaking bad news moment, selected the model they preferred, filled an HLC scale and were interviewed about their choices. Data were analyzed with Chi-square, Kruskal-Wallis and Mann-Whitney tests. Interviews were content-analyzed. RESULTS: 77.8% preferred an "empathic professional", 12.5% a "distanced expert" and 9.7% an "emotionally burdened expert". Preferences varied significantly with HLC scores (patients with higher internal locus of control (ILC) and lower PO preferred the empathic model), presence of cancer, age and education. Patients explained their preferences through aspects of Caring, Professionalism, Wording, Time and Hope. ILC registered significant differences in regards to Wording and Time, whereas PO was associated with Hope and Time. CONCLUSIONS: HLC is an important dimension that can help doctors to better know their patients. PRACTICE IMPLICATIONS: Knowing whether patients attribute their health to their own behaviors or to chance/others can help tailor the disclosure of bad news to their specific preferences.