Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent.

To identify possible factors affecting the psychological impact of pre-symptomatic testing for spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP ATTRV30M), we studied (1) the effect of previous experience with the disease in the family, (2) kinship with the closest affected relative and (3) gender of affected parent, when adapting to test results; as well as (4) differences in the course of psychological wellbeing in 63 subjects ( 28 at-risk for FAP ATTRV30M, and 35 at risk for SCA2), who pursued predictive testing for these diseases, in Cuba and in Portugal. Our research shows that individuals with little or no experience with the disease in their family exhibited more anxiety; at-risk subjects for SCA2 or FAP ATTRV30M who had a first degree relative with the disease showed lower levels of anxiety and depression during pre-symptomatic testing. Also those with an affected mother had lower levels of depression, either immediately, or one year after receipt of test results. Adaptation to pre-symptomatic testing results differed for subjects at-risk for the two different conditions. Unlike the FAP ATTRV30M families, carriers for SCA2 reported pathological levels of depression immediately after-testing (3 weeks), although those levels had returned to normal levels at 6 months. Subjects at-risk for FAP ATTRV30M tended to have less anxiety than those tested for SCA2, at the one-year follow-up. Overall, depression levels improved over time, while anxiety remained more constant. A longer awareness of the disease in the family, closer kinship, and a transmitting mother all lessened the impact of pre-symptomatic testing, as expressed by the post-test levels of anxiety and depression.

Designer babies on tap? Medical students' attitudes to pre-implantation genetic screening.

This paper describes two studies about the determinants of attitudes to pre-implantation genetic screening in a multicultural sample of medical students from the United States. Sample sizes were 292 in study 1 and 1464 in study 2. Attitudes were of an undifferentiated nature, but respondents did make a major distinction between use for disease prevention and use for enhancement. No strong distinctions were made between embryo selection and germ line gene manipulations, and between somatic gene therapy and germ line gene manipulations. Religiosity was negatively associated with acceptance of "designer baby" technology for Christians and Muslims but not Hindus. However, the strongest and most consistent influence was an apparently moralistic stance against active and aggressive interference with natural processes in general. Trust in individuals and institutions was unrelated to acceptance of the technology, indicating that fear of abuse by irresponsible individuals and corporations is not an important determinant of opposition.

Attitudes and anticipated reactions to genetic testing for cancer among patients in Mexico City.

The aim of this study was to investigate the attitudes toward cancer predictive genetic testing in a group of non-high-risk women and men and to analyze the factors that may influence their intention to use these tests. We studied a sample of 859 outpatient women and men attending the four tertiary care hospitals of the ISSSTE (Institute of Social Security and Services for Government Employees) in Mexico City. Subjects between the ages of 30 and 74 years with no present or past history of cancer were asked to answer a questionnaire through face-to-face interview. Two different questionnaires were designed, one for women and the other for men, regarding genetic testing of a high-risk gene for breast and prostate cancer, respectively. Descriptive statistics and univariate comparisons were carried out using chi-square test, Wilcoxon's signed rank test, and Friedman test. Multivariate analysis was performed using logistic regression technique. Results showed that the majority of women attended clinics for regular check-ups and for performing screening tests to detect breast cancer, and men did not follow this pattern regarding prostate cancer. Women were more motivated to get genetic testing, more aware about its benefits, and more concerned about having cancer than men.

Attitudes and knowledge about genetic testing before and after finding the disease-causing mutation among individuals at high risk for familial, early-onset Alzheimer's disease.

This study was designed to investigate the influence of finding a disease-causing mutation for an early-onset form of Alzheimer's disease, with the intention of taking a presymptomatic genetic test. First-degree relatives of patients with Alzheimer's disease from a large Cuban family with a newly described mutation in presenilin 1 gene were interviewed before and after molecular studies. Significant differences were observed regarding the knowledge of the disease (p=0.0004), interest in presymptomatic testing (p=0.000), and possible reproductive behavior (p=0.0087) in the same individuals in two different periods, 1997 and 2007. Our results show that there is a marked difference in the attitudes concerning genetic testing when individuals gain more knowledge about the disease and when there is more certainty about the test.

Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.

Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies.

[Risk discourse and prenatal genetic counseling]. / O discurso do risco e o aconselhamento genético pré-natal.

Medicalization is a highly visible and widespread social phenomenon in Western societies which is expressed differently according to gender. Pregnancy is heavily medicalized, and a surveillance network surrounds pregnant women, holding them accountable for both their own health and the production of a healthy fetus. Prenatal risk control is proposed in a context where diagnostic and therapeutic possibilities overlap. This problem is aggravated by the fact that abortion is illegal in Brazil. The current article is the result of research in a genetic counseling unit that consisted of: observation of consultations, review of patient files, and interviews with health professionals. The highly medicalized context of genetic counseling is discussed, as well as physicians' perception of their own practice. The article also discusses the potential impact on women's decisions related to risks, techniques, exams, and their consequences.

Awareness and attitude toward prenatal diagnosis of chromosomal abnormalities in patients with no access to legal termination of pregnancy.

OBJECTIVE: To analyze variables affecting couples' decision making about prenatal cytogenetic diagnosis in patients with no access to legal termination of pregnancy (TOP). METHODS: Patients undergoing invasive prenatal diagnosis were anonymously surveyed after counseling and before the procedure. The questionnaire enquired about sociodemographic features, medical history, knowledge of and attitudes toward genetic testing and TOP. RESULTS: Two genetic units distributed 372 questionnaires. Mean maternal age was 36 +/- 4 years. Access to prenatal genetic counseling was mainly patient's own initiative, or 'self-referral'. Most self-referred patients (87%) considered that 'receiving accurate information' was the main issue. Eighty-one per cent of all couples knew that TOP because of fetal anomalies was not legal. In case of a serious anomaly, 68.2% of patients would contemplate TOP, in spite of the risk of being exposed to an unsafe abortion. CONCLUSIONS: In many countries, prenatal genetic testing is offered, but TOP is not available. In the present study, although most of the couples who decided to undergo prenatal genetic testing were aware of this, they still chose to perform prenatal diagnosis. The main reason given was to obtain reliable information about fetal condition. Finally, if a fetal chromosomal abnormality were detected, most of them would consider TOP.

Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease.

The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD. All 56 family members would use presymptomatic testing to know their own risk of AD. Confronted with a hypothetical reproductive choice, 50% would choose not to have children if they themselves had the mutation. A positive prenatal test would lead 48.2% of the participants to have an abortion, and 19.7% would continue the pregnancy regardless of the positive test result.

Encaminhamento genético e seus estressores segundo pais de crianças com suspeita de fibrose cística / The genetic assignment and its stressors according to the parents of the children with evidence of cystic fibrosis

A relação entre stress e doença crônica tem sido estudada geralmente a partir do diagnóstico médico. Contudo, pode ocorrer antes da identificação da doença, especialmente no encaminhamento para exames genéticos. Pretendeu-se identificar, por entrevista gravada, as dificuldades geradas por esse tipo de encaminhamento em 40 pais de crianças com suspeita de fibrose cística. Destacam-se alguns dos inúmeros estressores gerados pela possibilidade de um diagnóstico positivo. Os pais (56 por cento) já haviam passado por vários profissionais, sendo encaminhados pela rede pública de saúde (55 por cento) na busca de um diagnóstico, o que os tornou mais suscetíveis ao desenvolvimento de respostas de stress. A maioria (62, 5 por cento) relatou que não obteve do profissional qualquer informação sobre o procedimento adotado, fato que gerou ansiedade e preocupações no meio familiar (35 por cento). Conclui-se, entre outros aspectos, que a equipe profissional necessita identificar e considerar esses estressores no acompanhamento que oferece às famílias, como suporte social(AU)