Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study

Mella, Sara; Muzzatti, Barbara; Dolcetti, Riccardo; Annunziata, Maria Antonietta

doi:10.1186/s13053-017-0077-6

Cited by 24 publications

(31 citation statements)

References 38 publications

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“…In general, I-PACH scores were negligibly associated with background characteristics, except for a tendency to decrease with age. While this latter result is consistent with findings by Ballatore et al (2020), the former replicates those already reported by Mella et al (2017). Notably, all scores were significantly associated with a positive answer to the question about the wish to speak with a psychologist in addition to the clinical geneticist/ genetic counselor, albeit weakly.…”

Section: Discussionsupporting

confidence: 90%

“…However, the possible negative consequences of oncogenetic counseling on psychological wellbeing of Italian counselees and the need of a psycho-oncologist in a multidisciplinary team have been pointed out more than a decade ago (e.g., Condello et al, 2007 ; Caruso et al, 2008 ). Recent studies carried out in Italy have shown that ex-patients and affected patients, especially if females and younger, tend to report higher levels of anxiety, depression, negative mood, and genetic risk perception, and lower levels of quality of life and wellbeing than healthy counselees, and thus may be at risk of psychological discomfort during the counseling process (e.g., Cicero et al, 2017 ; Mella et al, 2017 ; Di Mattei et al, 2018 ; Ballatore et al, 2020 ). Therefore, identifying counselees’ personal and psychosocial needs before and after genetic testing could help Italian practitioners target those individuals who are most likely to seek and to use psychological service ( Maheu et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

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Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire

et al. 2021

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Individuals that attend cancer genetic counseling may experience test-related psychosocial problems that deserve clinical attention. In order to provide a reliable and valid first-line screening tool for these issues, Eijzenga and coworkers developed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire. The aim of this work was to develop an Italian adaptation of the PAHC (I-PACH). This prospective multicenter observational study included three stages: (1) development of a provisional version of the I-PAHC; (2) pilot studies aimed at testing item readability and revising the questionnaire; and (3) a main study aimed at testing the reliability and validity of the final version of the I-PAHC with the administration of a battery comprising measures of depression, anxiety, worry, stress, and life problems to 271 counselees from four cancer genetic clinics. Adapting the original PAHC to the Italian context involved adding two further domains and expanding the emotions domain to include positive emotions. While most of the items were found to be easy to understand and score, some required revision to improve comprehensibility; others were considered irrelevant or redundant and therefore deleted. The final version showed adequate reliability and validity. The I-PAHC provides comprehensive content coverage of cancer genetic-specific psychosocial problems, is well accepted by counselees, and can be considered a sound assessment tool for psychosocial issues related to cancer genetic counseling and risk assessment in Italy.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire

et al. 2021

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“…In a cross-sectional study by Walker et al, the point prevalence for depression in breast cancer patients was 9.3% (95% CI, 8.7-10.0%) (38), whereas the point prevalence for major depression in our sample of mutation carriers was 16.9% (n = 13). Mella et al observed even higher anxiety and depression levels in BRCA1 or BRCA2 mutation carriers without cancer than in diseased individuals (39). These research ndings demonstrate that the detection of a mutation can cause cancer fear and lead to psychological distress (8,36).…”

Section: Discussionmentioning

confidence: 83%

“…Nevertheless, most mutation carriers were very satis ed with the decision of undergoing genetic testing. Another limiting factor in our analysis was that men and women were included in the study population, however, middle-aged women were overrepresented, equivalent to previous studies on genetic testing (39,43). This could also have led to a potential underrepresentation of gender-based aspects.…”

Section: Discussionmentioning

confidence: 95%

Communication Processes about Predictive Genetic Testing within High-Risk Breast Cancer Families: A Two-Phase Study Design

Blomen

Pott

Volk

et al. 2021

Preprint

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Background: The detection of a pathogenic variant in the BRCA1 or BRCA2 gene has medical and psychological consequences for both, affected mutation carriers and their relatives. This study analyzed the psychological impact of genetic testing and mutation-positive test result as well as associated family communication processes from the perspective of BRCA1 or BRCA2 mutation carriers and their family members.Methods: We conducted a two-phase study with explanatory sequential mixed methods design to understand the perspective of psychological process regarding genetic testing more efficiently. First, we analyzed a survey data of 79 carriers of a BRCA1 or BRCA2 mutation. Second, we conducted focus group interviews of 10 family members to deepen understanding of communication processes in high-risk families.Results: The average age of the BRCA1 or BRCA2 mutation carriers was 48 years, 58% had a history of cancer. The majority (64.6%) had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. The main motives for undergoing genetic testing were desire for safety, prevention and risk assessment for the own children. The mutation carriers were satisfied with the decision to undergo genetic testing. Contrary to their subjective perception, the respondents' knowledge about those mutations was moderate. The familial communication was merely partially successful. In contrast to the high rate of disclosure to at-risk relatives (100%), the reported uptake of genetic testing among informed at-risk relatives was low (45.6%). In-depth focus group interviews with 10 family members revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and the own cancer risk, particulary among males.Conclusion: The detection of a BRCA1 or BRCA2 mutation has psychological impact not only on mutation carriers but also on their family members. An adequate knowledge of the genetic background is required to reduce the level of psychological distress and to support the familial communication process. Therefore, the quality of information sources for affected individuals and relatives and also the awareness of health care professionals have to be improved.

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“…Although geneticists are aware of such issues, participants’ declarations tended to show that the distress is generally much deeper than expected. The duration of this trauma has been discussed, some authors considering it to be transient [21, 22] while others report high level of distress, anxiety, depression and/or anger still 1 month after announcement [23, 24], in particular in young counselees from mutated families coming for a targeted test. This was the case of our participants.…”

Section: Discussionmentioning

confidence: 99%

BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer

Kwiatkowski

Gay‐Bellile

Dessenne

et al. 2019

Hered Cancer Clin Pract

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Background In families with high risk of hereditary breast/ovarian cancer (HBOC), women before age 30 do not yet undergo clinical screening, but they are exposed to contradictory information from diverse sources. They may be presented with surgical prevention options at a key moment of their identity construction, the start of a marital relationship and/or at the onset of procreation projects. We tested an original psychoeducational intervention to help these women better cope with these difficult issues. Methods Seven young female counselees (26.4 ± 2.9 years [23–30]) from the Oncogenetics Department at Jean Perrin Comprehensive Cancer Center were enrolled. A weekend group workshop composed of short conferences, group sharing and role playing activities was supervised by a psychotherapist. A longitudinal analysis of questionnaires over one year of follow-up was performed. The Herth Hope Inventory was evaluated, as well as self-esteem, anxiety, perceived control, coping, and quality of life. Participants’ comments were collected by a genetic counselor throughout the workshop. Results All participants were BRCA mutation carriers and six had lived with a close relative affected by breast/ovarian cancer. Hope, self-esteem and quality of life increased during the year after the workshop ( p = 0.0003). Coping by focus on the problem increased in the first 6 months ( p = 0.011) and returned to baseline values at one year, while coping by focus on emotions decreased steadily ( p = 0.021). Debriefing from the workshop highlighted the new medical opportunities proposed and the challenges these young women face, such as whether to have prophylactic surgery, and if so before or after having children, and how surgery might affect their relationship with their partner. Conclusion A tailored two-day psychoeducational workshop may be sufficient to improve the way young women with BRCA mutations deal with the implications of HBOC risk. Trial registration BRACAVENIR was registered in ClinicalTrials.gov with no NCT02705924. Electronic supplementary material The online version of this article (10.1186/s13053-019-0107-7) contains supplementary material, which is available to authorized users.

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Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study

Cited by 24 publications

References 38 publications

Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire

Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire

Communication Processes about Predictive Genetic Testing within High-Risk Breast Cancer Families: A Two-Phase Study Design

BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer

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