Attitudes toward genetic counseling and prenatal diagnosis among a group of individuals with physical disabilities

Few studies have been published on the attitudes of people with physical disabilities toward genetic counseling and prenatal diagnosis. Articles in the lay press and social science literature on this topic, mainly written by disability rights activists and advocates, imply opposition to prenatal diagnosis and the field of clinical genetics by the physically disabled population. In this study, 15 adults with physical disabilities were interviewed regarding their attitudes toward genetic counseling and prenatal diagnosis. Genetic counseling and prenatal diagnosis were generally viewed favorably by this sample of the disability community. Only a small percentage of the sample perceived genetics to be eugenic. Implications for genetic counseling and future research are discussed.     

Attitudes Toward Cystic Fibrosis Carrier and Prenatal Testing and Utilization of Carrier Testing Among Relatives of Individuals with Cystic Fibrosis

A questionnaire and an offer of free carrier testing was mailed to 173 relatives of individuals with CF. The questionnaire addressed their knowledge of clinical and genetic aspects of CF, as well as their attitudes toward carrier testing, prenatal diagnosis, and pregnancy termination for CF. Eighty-one individuals returned the questionnaire (47%) and 50 elected carrier testing (29%). Most respondents underestimated their carrier risk (60%), but overestimated their risk to have a child with CF (63%). Most (93%) indicated they would utilize carrier testing, and 70% would use prenatal testing; however, only 7% would consider terminating a pregnancy for CF. The intention to use prenatal testing was correlated with the perceived health of the proband and whether the respondent was planning to have (more) children. The acceptability of abortion was correlated with the respondent's perceived impact or burden of CF.     

Attitudes toward genetic testing for cystic fibrosis among college students

The knowledge and attitudes of 25 college students toward clinical and genetic aspects of cystic fibrosis (CF) were assessed before and after an 80-minute presentation about the disease. The students were asked about their plans regarding genetic testing for cystic fibrosis prior to, and during future conceptions. While their knowledge about the disease increased significantly following the lecture, there were no significant changes in their attitudes.     

Attitudes and uptake of a screening test: The moderating role of ambivalence

This study examined the extent to which ambivalence moderates the relationship between attitudes and screening behaviour in a clinical setting using an objective measure of behaviour. For this study 979 pregnant women eligible for prenatal Down syndrome screening completed questionnaire measures of attitudes, ambivalence and intentions towards undergoing the test. Screening behaviour, assessed by test uptake, was determined from medical records. Attitudes predicted intentions to undergo the test and screening behaviour. The correlations between attitudes and intentions and between attitudes and behaviour were greater in women with lower levels of ambivalence (r?=?0.85 and r?=?0.58, respectively) than in those with higher levels of ambivalence (r?=?0.50 and r?=?0.27, respectively). Regression analyses revealed that ambivalence moderated the relationships between attitudes and intention and between attitude and behaviour. In addition, a three-way interaction was found between ambivalence, attitudes and intention when predicting behaviour. Given that behaving consistently with attitudes is central to making an informed choice, ambivalence appears to undermine the making of such choices.     

Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primarily genital form of cystic fibrosis (CF). Fourteen males with CBAVD considering microsurgical sperm aspiration from the epididymis (MESA) and in vitro fertilization were seen for genetic counseling and screening for CF. To retrospectively evaluate these patients' perceptions of the counseling and screening information, we conducted structured telephone interviews to assess their recall of information about CF and its impact on their health concerns and reproductive plans. We found that, as the health implications of CF are abstract and not as important to patients as the diagnosis of CBAVD itself, patients tend to view their CF status primarily in terms of their reproductive potential. Retrospective analysis afforded us an opportunity to identify the psychosocial issues of most concern to this unique patient population.     

To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum

We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews of women/couples and 50 observations of genetic counseling sessions. Worry turned out to be the most important variable influencing decision making about prenatal genetic testing and was greater in the MSAFP3 group than in the AMA group. The women in the AMA group appeared to assign the risk of having a child with Down syndrome to their age category rather than to themselves individually, whereas, the risk perception for women with an abnormal MSAFP3 appeared to have shifted from a general population risk for pregnant women to an individual, personal risk. There was a general lack of understanding and also more misinformation about the MSAFP3 screen compared to amniocentesis. Women in both groups were torn between fear of an invasive test and worry about the health of their fetus for the rest of their pregnancy if they did not undergo amniocentesis.     

Genetic Counselors' Experiences with Paternal Involvement in Prenatal Genetic Counseling Sessions: An Exploratory Investigation

Limited research exists concerning male partners' participation in prenatal genetic counseling (R. Kenen, A. C. M. Smith, C. Watkins, & C. Zuber-Pitore, J. Genet Corns 9, 33–45, 2000). To further understand paternal participation, we interviewed 17 experienced prenatal genetic counselors to assess their perspectives on this issue. We investigated 6 research questions: 1) How do genetic counselors define paternal involvement, 2) how do they determine and address problematic involvement, 3) what factors influence involvement, 4) was paternal involvement addressed in training, 5) how might training be improved, and 6) how do participant strategies for addressing involvement compare to those of marriage/family therapists? Qualitative analysis revealed that 1) participants regard paternal involvement asimportant; 2) most address problematic involvement with strategies similar to those of marital/family therapists; 3) influential factors include male partner's characteristics, the couple's relationship (including culturalpractices), and pregnancy factors; and 4) participants received little or notraining on paternal involvement and recommended didactic and experientialactivities. Implications and research recommendations are presented.     

Psychological consequences of positive results in cervical cancer screening

Abstract

This study was carried out to assess the psychological impact of abnormal cervical smear results. Existing literature contain only uncontrolled studies or controlled studies with non-standardised measures. Subjects were recruited from women attending two general practices for routine cervical smears over a six month period. A comparison was made between women with positive results who were referred for colposcopy, with mild abnormalities who were asked to return for a repeat smear in six months, or negative smear results. Psychometric assessment by postal questionnaire was carried out one week after receiving the result. The measures used were the 28-item General Health Questionnaire (GHQ-28), Spielberger State Anxiety (STAI), and a measure designed specifically for use in the study, the Cervical Screening Questionnaire (CSQ). Results indicated that women with positive smear test results who were referred for colposcopy had significantly higher scores on GHQ (p<.01) STAI-S (p<.05) and CSQ (p<.001) than women with mild abnormalities or negative results. Significant differences between the groups with mild abnormalities and negative results were found on the CSQ (p<.05). These findings suggest that positive results on cervical screening are associated with a significant psychological impact including a range of specific concerns about gynaecological health and cancer, increased anxiety and impaired well-being. Even mildly abnormal results, which involve a recommendation for early repeat screening, cause raised concern about cancer for the recipients. The procedures for providing smear results should be organised to minimise the level of distress.     

Knowledge and Attitudes Towards Genetic Testing: A Two Year Follow-Up Study in Patients with Asthma,Diabetes Mellitus and Cardiovascular Disease

Adequate knowledge and personal attitudes towards DNA-testing are major determinants of optimal utilization of genetic testing. This study aims to (1) assess the genetic knowledge and attitude towards genetic testing of patients with asthma, diabetes mellitus type II and cardiovascular diseases, (2) determine whether their knowledge or attitude changed since 2002, and (3) investigate the predictive role of knowledge on attitude. Data were collected within the Panel of Patients with Chronic Diseases in 2002 and 2004, resulting in 398 data-pairs. Results show that factual knowledge mainly relates to associations between genes and diseases, less is known on associations between genes, chromosomes, cells and body. The perceived knowledge on DNA-testing has not increased since 2002. The attitude towards genetic testing also appeared to be rather consistent. Less perceived medical genetic knowledge and more perceived social genetic knowledge were found predictive for a more reserved attitude towards genetic testing. In conclusion, advanced developments in the field of genetics are not accompanied by increased knowledge of patients with common multi-factorial diseases. The finding that more perceived social genetic knowledge results in more reluctance can be considered an indicator for the necessity of social debates on genetic testing.     

Nondirectiveness and Its Lay Interpretations: The Effect of Counseling Style, Ethnicity and Culture on Attitudes Towards Genetic Counseling Among Jewish and Bedouin Respondents in Israel

To evaluate the effects of ethnicity, culture, and counseling style on the interpretation of nondirectiveness in genetic counseling, a questionnaire containing premarital and prenatal case vignettes in two versions (pessimistic/optimistic) was administered to 281 Jewish and 133 Bedouin respondents. The first study population was comprised of Jewish students enrolled in a university and a community college in the Negev (southern part of Israel). The second study population was comprised of Muslim-Bedouin college students from the same area. The majority of Jewish respondents interpreted the nondirective message as intended by counselors, while the majority of Bedouin respondents did not. Counseling style was found to have a statistically significant effect on the interpretation of the general role of counseling. Gender and susceptibility were not found to have a significant effect on interpretation. Group differences are analyzed through a cultural lens in which different interpretive norms can generate expectations for either nondirectiveness or directiveness.     

论遗传咨询和保健服务的科技保障与伦理优先

就遗传咨询服务及相关保健服务过程中涉及到的科技保障与伦理优先的问题进行了讨论。对在遗传咨询服务和产前诊断技术服务中的有关伦理问题提出了一些见解。认为,科技保障是遗传咨询和相关保健服务的基础,而伦理优先则是传咨询和相关保健服务的道德规范。只有在符合道德规范前提下的技术服务,才是真正科学的技术服务。     

Pre-screening education in multiple marker screening programs: The effect on patient anxiety and knowledge

Previous studies have shown that unexplained deviations in maternal serum multiple marker screening (MMS) generate considerable anxiety during the remainder of pregnancy. While the role of education in decreasing anxiety is documented, to date there has been no prospective evaluation of which educational practices might minimize this emotional stress. In a pilot study, we prospectively examined the effects on anxiety and knowledge by providing information about MMS (1) by genetic counselor, (2) by pamphlet, and (3) by primary physician. Women randomized to one of these three modalities were administered the Spielberger State- Trait Anxiety Inventory [STAI] and knowledge questionnaires at their initial obstetrics visit, at their second visit after educational intervention and 1–2 weeks after MMS results were provided to patients. Education resulted in an increase in knowledge and post-education knowledge was different between educational modalities. Anxiety declined in patients educated through genetic counseling or a pamphlet.     

Genetic counseling after abnormal prenatal diagnosis: Facilitating coping in families who continue their pregnancies

Families continuing a pregnancy after abnormal prenatal diagnosis face a unique crisis. Case examples are combined with clinical observations and a review of selected literature to define the elements of this crisis. Counseling strategies are discussed that may facilitate coping. Further research is needed to define the experience, as well as to identify effective coping strategies and successful counseling approaches.     

催产素对产后抑郁症患者母性行为的调节作用

产后抑郁症是指女性分娩后一段时间内出现的严重抑郁发作现象。研究表明, 催产素不仅参与分娩过程和正常的母性行为表达, 也在调节产后抑郁的发病及患者的母性行为中起到了重要的作用。产后抑郁症患者的情绪和认知功能受损, 这可能导致了母性行为表达质量的下降; 催产素可以通过中脑边缘多巴胺系统来调控母性行为, 作用于内侧视前区(MPOA)来激活中脑腹侧被盖区(VTA)-伏隔核(NAc)环路从而影响伏隔核内多巴胺的分泌; 催产素对产后抑郁症中母性行为的调节机制可能是通过调节五羟色胺系统的功能来发挥抗焦虑作用, 也可能是通过与其它激素的交互作用来加速母性行为的表达。未来研究进一步明确催产素在中枢神经环路中的功能差异, 以及社会支持对产后抑郁症患者催产素的使用带来的影响。     

Genetic counseling for a family with two distinct anomalies: A case report of a neural tube defect and 5p- syndrome in a fetus

A couple presented for genetic counseling because of an elevated maternal serum alpha fetoprotein. Ultrasound examination revealed the presence of a neural tube defect. The couple declined an amniocentesis, but chose serial ultrasound evaluations instead. Ultrasounds eventually identified microcephaly, but the couple continued to decline amniocentesis. After the child's birth, the diagnosis of 5p- syndrome was made. The couple's decision not to have an amniocentesis allowed the family their right to autonomy; however, prenatal chromosome analysis would have provided this couple with a great deal more prognostic information. We discuss the conflict between a counselor's duty to respect a client's freedom vs. duty to care for a client's welfare. We address issues of nondirective counseling and the need for more studies looking at the decision-making process in prenatal diagnosis.     

A test of positive and negative extended intergroup contact in a Chinese minority with perceived group norms and intergroup anxiety as mediators

This article is aimed to examine the effect of Uyghur's (minority group) positive and negative extended contact with Han (majority group) within the background of China. One affective (intergroup anxiety) and two cognitive (perceived in‐group and out‐group norms) variables were tested as potential mediators. A sample of 875 Uyghur minority college students ranging in age from 17 to 25 years completed self‐reported measures of direct contact, positive and negative extended contact, intergroup anxiety, perceptions of in‐group and out‐group norms, out‐group attitudes, and contact intentions. Results revealed that both positive and negative extended contact were associated with out‐group attitudes and contact intentions, over and above the effect of direct contact. The effects of both forms of extended contact were mediated by intergroup anxiety, perceived in‐group, and out‐group norms. Notably, positive extended contact exerted larger effects than negative extended contact. This research highlights the significance of considering both positive and negative extended contact and the potential of extended contact as a means to ameliorate intergroup relations from the perspective of minority groups.