RESUMEN
Scientific reports suggest that women at risk for familial breast cancer may benefit from prophylactic mastectomy. However, few data are available about how women decide upon this clinical option, and in particular, what role an objective risk assessment plays in this. The purpose of the present study is to assess whether this objective risk information provided in genetic counselling affects the intention for prophylactic mastectomy. Additionally, the (mediating) effects of breast cancer worry and perceived risk are investigated. A total of 241 women completed a questionnaire before and after receiving information about their familial lifetime breast cancer risk in a genetic counselling session. Path analysis showed that the objective risk information had a corrective effect on perceived risk (beta=0.38; P=0.0001), whereas the amount of breast cancer worry was not influenced by the counselling session. The objective risk information did not directly affect the intention for prophylactic mastectomy. The intention was influenced by perceived risk after counselling (beta=0.23; P=0.002), and by the precounselling levels of perceived risk (beta=0.27; P=0.00025) and breast cancer worry (beta=0.32; P=0.0001), that is, higher levels of perceived risk and breast cancer worry imply a stronger intention for prophylactic mastectomy. A personal history of breast cancer did not directly influence the intention for prophylactic mastectomy, but affected women who had undergone a mastectomy as surgical treatment were more positively inclined to have a prophylactic mastectomy than women who had had breast-conserving therapy. The impact of objective risk information on the intention for prophylactic mastectomy is limited and is mediated by perceived risk. Important determinants of the intention for prophylactic mastectomy were precounselling levels of breast cancer worry and perceived risk, suggesting that genetic counselling is only one event in the entire process of decision making. Therefore, interventions aimed at improving decision making on prophylactic mastectomy should explicitly address precounselling factors, such as personal beliefs and the psychological impact of the family medical history.
Asunto(s)
Neoplasias de la Mama/prevención & control , Neoplasias de la Mama/psicología , Asesoramiento Genético , Mastectomía/psicología , Adulto , Profilaxis Antibiótica , Neoplasias de la Mama/genética , Demografía , Femenino , Humanos , Persona de Mediana Edad , Percepción , Medición de Riesgo , Encuestas y CuestionariosAsunto(s)
Neoplasias de la Mama/psicología , Asesoramiento Genético , Adolescente , Adulto , Factores de Edad , Anciano , Neoplasias de la Mama/genética , Demografía , Escolaridad , Salud de la Familia , Femenino , Genes BRCA1 , Genes BRCA2 , Humanos , Persona de Mediana Edad , Motivación , Mutación , Núcleo FamiliarRESUMEN
In a comparative study on the effects of predictive DNA testing for late onset disorders, pre-test psychological distress was assessed in people at risk for Huntington's disease (HD, n = 41), cerebral haemorrhage (HCHWA-D, n = 9), breast and ovarian cancer (HBOC, n = 24), and polyposis coli (FAP, n = 45). Partners, if available, also participated in the study. Distress was measured with the subscales Intrusion and Avoidance of the Impact of Event Scale. People at risk for the neurodegenerative disorders reported more avoidance than those at risk for the cancer syndromes. People at risk for FAP and partners of those at risk for HBOC reported less intrusion than the others at risk and the other partners. Subjects who were more distressed reported more experiences with the disease in close relatives, the disease having a great impact on their lives, having considerations against predictive testing, expecting that being identified as a gene carrier would have adverse effects, and expecting relief after being identified as a non-carrier. Test candidates who expected an increase of personal problems showed higher avoidance, whereas those who could better anticipate future life as a carrier had higher intrusion levels. Generally, subjects with high distress levels are of more concern to the healthcare professional than those with low distress levels. However, high distress may reflect worrying as a mental preparation for the test result, whereas low distress may indicate denial-avoidance behaviour and poor anticipation of the test outcome. In pre-test counselling sessions, this should be acknowledged and addressed.
Asunto(s)
Encefalopatías , Aberraciones Cromosómicas/genética , ADN/análisis , Enfermedades Genéticas Congénitas/epidemiología , Estrés Psicológico/genética , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/genética , Adolescente , Adulto , Edad de Inicio , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/genética , Aberraciones Cromosómicas/fisiopatología , Trastornos de los Cromosomas , Femenino , Tamización de Portadores Genéticos , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/genética , Heterocigoto , Humanos , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/genética , Masculino , Persona de Mediana Edad , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Valor Predictivo de las Pruebas , Factores de Riesgo , Parejas Sexuales/clasificación , Parejas Sexuales/psicología , Estrés Psicológico/clasificaciónRESUMEN
Hereditary glomus tumour (MIM 168,000) or paraganglioma (PGL) is a slowly progressive disorder causing benign tumour growth predominantly in the head and neck region. Though benign in nature the tumours can lead to severe morbidity. Inheritance of PGL is autosomal dominant and is strongly modified by genomic imprinting; only a paternally transmitted PGL gene leads to symptoms. A gene for PGL has recently been mapped to 11q22.3-q23. Genetic counselling on the basis of DNA linkage diagnosis was offered in an extended Dutch pedigree. Thirty-two subjects opted for further counselling, of whom 20 applied for DNA testing and participated in a standardised protocol. Sixteen cases had presymptomatic testing (paternal allele); four of these appeared to have the at risk haplotype and in two of them a glomus tumour was subsequently detected on MRI. In one case linkage results were inconclusive (recombination) and one person did not want to learn his test result. Four cases had testing for carrier status (maternal allele) of which one appeared to be a carrier. Our data show that genetic counselling gains significant accuracy when based on parent of origin, sex of the counsellee, and DNA linkage diagnosis. Moreover, a normal DNA result may prevent unnecessary worry and investigations, while an established presymptomatic diagnosis will guide adequate clinical management. The psychological impact of counselling and predictive DNA testing is unclear as yet. Further investigations into the natural history of PGL in gene carriers and into the psychological impact of DNA testing is desirable.
Asunto(s)
Asesoramiento Genético , Tumor Glómico/genética , ADN de Neoplasias , Femenino , Ligamiento Genético , Técnicas Genéticas , Tumor Glómico/diagnóstico , Humanos , Masculino , LinajeRESUMEN
In a multicentered trial, the authors investigated 280 cardiac patients to determine the level of recovery of their social life after they had completed a physical training program. Data on work and leisure activities (sports, hobbies, social contacts, and odd jobs) were obtained immediately before and after rehabilitation and again 12 months later by means of semistructured interviews and an inventory of leisure activities. For the analysis of leisure variables, they developed a classification procedure to assign patients to one of five categories indicating an unchanged good outcome, significant recovery, nonparticipation, significant deterioration, or an unchanged poor outcome. The results after rehabilitation showed that some patients had benefited more than others. In addition, improvement or deterioration in one aspect of social recovery appeared to be independent from other aspects. Further systematic research is needed to determine which factors influence the amount of benefit derived from rehabilitation.
Asunto(s)
Cardiopatías/rehabilitación , Actividades Recreativas , Ajuste Social , Trabajo , Adaptación Psicológica , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Ocupaciones , Apoyo SocialRESUMEN
A multidisciplinary study was undertaken to determine the number of patients that recovered, deteriorated or remained unchanged during a cardiac rehabilitation programme, as assessed in medical, social and psychological terms. In addition, the relationship between the medical, social and psychological aspects of recovery were investigated. Criteria for improvement, deterioration and an unchanged condition had been developed for the different aspects of recovery. These criteria were based on the degree of change during the rehabilitation programme (expressed in an effect size index) and the outcome at completion of the programme (expressed in terms of good, moderate or poor according to external standards). Although more patients improved than deteriorated, quite a few patients remained unchanged in medical, social or psychological condition. We conclude that cardiac rehabilitation might not be necessary for some patients and is not sufficient for others. Further, the relationship between the several aspects of recovery investigated was found to be weak.