RESUMO
OBJECTIVE: We report on the uptake and psychological impact of p16-Leiden genetic testing to contribute to a greater understanding of counseling melanoma families. METHODS: Within a defined research setting, genetic counseling and testing were offered to members of p16-Leiden-positive melanoma pedigrees, at risk of carrying a gene defect associated with an increased risk of melanoma and pancreatic cancer. RESULTS: One hundred and eighty-four individuals sought counseling, of which 141 (77%) opted for genetic testing. Uptake of genetic counseling and testing, and psychological motivation was evaluated in 94 (57%) individuals. Higher pre-test risk of carrying the mutation and older age proved significantly predictive for counseling uptake. Age was predictive for test acceptance, whereas fearful test expectancies predicted test decline. Counselees had lower distress levels than those reported in other oncogenetic testing settings. CONCLUSION: We are the first to report on genetic testing for familial melanoma. Following the first counseling session, we found a relatively high uptake rate for p16-Leiden testing and no clinically worrisome levels of distress.
Assuntos
Genes p16 , Testes Genéticos/métodos , Melanoma/epidemiologia , Melanoma/genética , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/genética , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Atitude , Depressão/diagnóstico , Depressão/etiologia , Medo , Feminino , Aconselhamento Genético , Humanos , Masculino , Melanoma/psicologia , Pessoa de Meia-Idade , Motivação , Linhagem , Adulto JovemRESUMO
This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N=271) rated the prevalence and nature of changes in family relationships, familial difficulties and conflicts due to genetic testing 6 months after receiving the test result. The level of family functioning, differentiation from parents, support and familial communication style regarding hereditary cancer were assessed before receiving the test result. Genetic testing affected some family relationships in a positive way (37%), i.e. by feeling closer, improved communication and support, more appreciation of the relative and relief of negative test result. A minority reported unwanted changes in relationships (19%), problematic situations (13%) or conflicts (4%). Adverse effects comprised feelings of guilt towards children and carrier siblings, imposed secrecy and communication problems. Predictors of adverse consequences on family relationships were reluctance to communicate about hereditary cancer with relatives and disengaged-rigid or enmeshed-chaotic family functioning. Open communication between relatives should be stimulated because a lack of open communication may be an important determinant of familial adverse effects.
Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama , Neoplasias Colorretais , Família/psicologia , Neoplasias Ovarianas , Adulto , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Neoplasias da Mama/psicologia , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/psicologia , Comunicação , Demografia , Relações Familiares , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/psicologia , Mutação Puntual/genética , Estudos Prospectivos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Behavioural changes are a key factor in distinguishing frontotemporal dementia (FTD) from Alzheimer's disease (AD), however, little is known about the impact of these changes on caregivers. The aim of this study was to compare caregivers' distress related to behavioural symptoms of AD and FTD. METHODS: 47 spouse caregivers of consecutively referred patients with AD and 27 spouse caregivers of patients with FTD participated in this study. Behavioural disturbances in the patient and caregivers' emotional reactions were measured with the Neuropsychiatric Inventory. RESULTS: Patients with FTD had significantly higher levels of agitation, apathy, disinhibition and aberrant motor behaviour than did patients with AD. High distress scores were found for disinhibition, depression and apathy in caregivers of FTD patients whereas caregivers of AD patients reported patient apathy, depression and anxiety as being severely distressing. Higher mean distress scores were found for disinhibition in the FTD group. Furthermore, caregivers of FTD patients reported higher levels of general burden, and felt less competent than AD caregivers. CONCLUSIONS: Caregivers of FTD patients were overall more distressed by the behaviour of their partners than were the caregivers of AD patients. Findings from this study underscore the importance of differentiating between diagnostic groups and specific behavioural domains when focusing on caregiver reactions to problem behaviour.