Pheochromocytoma and paraganglioma genetic testing: Psychological impact.

2020 ◽  
Vol 39 (10) ◽  
pp. 934-943
Author(s):  
Raquel Gomes Martins ◽  
Irene Palmares Carvalho
Keyword(s):  
Genetic Testing ◽  
Psychological Impact

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

2021 ◽  
Author(s):  
Chiara Lena Blomen ◽  
Aliaksandra Pott ◽  
Alexander E. Volk ◽  
Lars Budäus ◽  
Isabell Witzel
Keyword(s):  
Psychological Distress ◽  
Genetic Testing ◽  
Psychological Impact ◽  
Family Members ◽  
Focus Group Interviews ◽  
Two Phase ◽  
Mutation Carriers ◽  
Communication Processes ◽  
Phase Study ◽  
Group Interviews

Abstract 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.

Psychological impact of genetic testing for adult‐onset disorders

2000 ◽  
Vol 172 (3) ◽  
pp. 126-129 ◽  
Author(s):  
Bettina Meiser ◽  
Margaret A Glseson ◽  
Katherine M Tucker
Keyword(s):  
Genetic Testing ◽  
Psychological Impact ◽  
Adult Onset

The Trajectory of Psychological Impact in BRCA1/2 Genetic Testing: Does Time Heal?

2008 ◽  
Vol 36 (2) ◽  
pp. 107-116 ◽  
Author(s):  
Tammy M. Beran ◽  
Annette L. Stanton ◽  
Lorna Kwan ◽  
Joyce Seldon ◽  
Julienne E. Bower ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Psychological Impact

Psychosocial Issues in Genetic Testing for Hereditary Colorectal Cancer

2021 ◽  
pp. 102-109
Author(s):  
Sukh Makhnoon ◽  
Susan K. Peterson
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Interpersonal Relationships ◽  
Genetic Risk ◽  
Management Strategies ◽  
Psychological Impact ◽  
Psychosocial Outcomes ◽  
Psychosocial Aspects ◽  
Risk Management Strategies ◽  
Test Result

Psychosocial factors influence colorectal cancer (CRC) genetic testing decisions and risk management strategies. Psychosocial research on hereditary CRC has focused on understanding individuals’ motivations and decisions regarding genetic testing, the psychological impact of genetic risk notification, the effects on family and interpersonal relationships, and factors influencing the uptake of risk reduction options (e.g., screening, risk-reducing surgery, or chemoprevention). Overall, the literature on psychosocial aspects of hereditary CRC suggest that despite initial fears, negative psychological impacts of genetic testing are often absent or modest, and adverse impacts, if observed, are short-lived. Due to the shared familial nature of genetic information, patients utilizing CRC genetic testing also experience novel psychosocial challenges in terms of family communication and childbearing. Positive psychosocial benefits such as relief from uncertainty and satisfaction of curiosity have been less frequently examined. Psychosocial outcomes vary across types of genetic testing, test results, gene penetrance and associated cancer risks, and various clinical and personal factors. For example, the psychosocial outcomes in response to an uncertain test result from a moderate-penetrance CRC-related gene may be different from a negative test result in a high-penetrance gene. This suggests that generalizing psychosocial outcomes from the various areas of scholarship may be unwise. Psychosocial aspects of genetic testing deserve attention by researchers and clinicians to design and deliver tailored genetic and psychological counseling support services geared to the ongoing needs of patients and their relatives who face genetic risk for colorectal cancer.

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