The impact of multiplex genetic testing on disease risk perceptions.

This study assessed the effects of multiplex genetic testing on disease risk perceptions among 216 healthy adults. Participants, aged 25-40, were recruited through the Multiplex Initiative, which offered a genetic susceptibility test for eight common diseases. Participants completed baseline telephone and web-based surveys prior to making the testing decision. Three months after the receipt of mailed test results, participants completed a follow-up telephone survey. Risk perceptions for the eight diseases were measured at baseline and follow-up, along with beliefs about genetic causation of those diseases. The main results were: (i) mean risk perceptions were considerably stable from baseline to follow-up; (ii) the best predictors of follow-up risk perceptions were the corresponding baseline perceptions and family history; and (iii) within-individuals, most participants increased or decreased their risk perceptions for specific diseases in concordance with the number of risk markers they carry, their family history and their beliefs about genetic causality of diseases. In conclusion, participants presented a vigilant approach to the interpretation of genetic test results, which provides reassurance with regard to a potential inflation of risk perceptions in the population because of multiplex genetic testing.

The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services.

The aim of this study was to develop a patient-reported outcome measure (PROM) for clinical genetics services. Previous research was used to develop a draft 84-item questionnaire, which was completed by 527 members of patient support groups. Responses were subjected to exploratory factor analysis (EFA). Parallel analysis was used to identify the number of factors to extract using oblique rotation. Twenty-four questions were selected to form the Genetic Counseling Outcome Scale (GCOS-24). Two hundred and forty-one patients completed a questionnaire pack before and after attendance at a genetics clinic that included the GCOS-24, and validated measures of health locus of control, perceived personal control, anxiety, depression, satisfaction with life and authenticity. Concurrent validity of the GCOS-24 was assessed using bivariate correlation. Sensitivity to change of the GCOS-24 was assessed using analysis of variance. EFA identified a single overarching construct consisting of seven dimensions. Internal consistency (α = 0.87) and test-retest reliability (r = 0.86) are good. The GCOS-24 shows convergent and divergent validities, and sensitivity to change over time with a medium-to-large effect size (Cohen's d = 0.70). The GCOS-24 has potential as a clinical genetics-specific PROM.

Monitoring coping style moderates emotional reactions to genetic testing for hereditary nonpolyposis colorectal cancer: a longitudinal study.

OBJECTIVES: The emotional effects of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) provided within a counseling program were assessed among 253 individuals. METHODS: Assessments were scheduled at baseline before testing, and again after 6 and 12 months post-test. Negative emotional reactions were evaluated using the Revised Impact of Event Scale and the Center for Epidemiological Studies-Depression Scale. Monitoring coping style was assessed at baseline using the Miller Behavioral Style Scale. RESULTS: Mean reductions were indicated in distress and depression levels within the first 6 months after counseling and testing. High monitors were generally more distressed than low monitors, specifically if they had indeterminate or positive results. CONCLUSIONS: Genetic counseling and testing for HNPCC do not result in long-term distress for most people. Of the variables investigated, only time and coping style have main effects on emotional reactions, and the impacts of mutation status are moderated by coping style. Psychological interventions, aimed to alleviate adverse emotional effects, were suggested for certain participants, i.e. recipients of positive or indeterminate results who are high monitors.

Effect of framing on the perception of genetic recurrence risks.

Individuals asked to evaluate genetic recurrence risks were found to be influenced by the way the risks were framed. Presenting a single risk figure resulted in overweighting of low probabilities and underweighting of high probabilities, as compared to presenting a list of sequential risks. Differences were also found between meanings attached to verbal expressions of risks when translating from verbal to numerical expressions, and vice versa. The implications of these findings for genetic counseling are discussed.

Application of the Health Belief Model in a study on parents' intentions to utilize prenatal diagnosis of cleft lip and/or palate.

Parents of children with cleft lip and/or palate (42 women and 35 men) participated in a study on intentions to use prenatal diagnosis of cleft by ultrasound in subsequent pregnancies. Based on the Health Belief Model (HBM) [Rosenstock, 1974], parents' cognitions on 4 factors were measured by questionnaires: "susceptibility" and "severity perceptions," "benefits" and "barriers" evaluations. Most parents perceived the defect as severe. Over-estimation of recurrence risks was predominant even among parents who had received genetic counseling. Results showed that most parents intend to utilize prenatal diagnosis but do not intend to abort an affected fetus. Subjects' reported reasons represented 3 thematic categories: cognitive (the need to know), emotional, and behavioral. Parents' intentions to diagnose and to terminate were related to the factors predicted by the HBM model. Regression analyses indicated that 38% of the variance in intentions to diagnose and 56% of the variance in intentions to terminate could be explained by the studied variables. The best predictor of both intentions was the perceived benefits of the diagnosis. Implications of these findings for genetic counseling are discussed.

Satisfaction with genetic counseling: dimensions and measurement.

Patient satisfaction has become a significant issue in evaluating medical care, although it has been largely neglected in genetic counseling. A 32-item questionnaire was designed to examine patient satisfaction and was administered to 76 clients in a genetic counseling center, and 56 parents attending a pediatric outpatient clinic (the control group). Factor analysis showed 3 dimensions to satisfaction with genetic counseling: instrumental, affective, and procedural. The general level of satisfaction was found to be lower in the genetic counseling group than in the control group. This finding was interpreted as expressing basic properties of genetic counseling. The most important determinant of satisfaction in both groups was satisfaction with the content of information provided in counseling. Some affective and procedural aspects of genetic counseling were found more satisfying, and more important in determining genetic clients' general sense of satisfaction, as compared to the control subjects.

Perceived personal control (PPC): a new concept in measuring outcome of genetic counseling.

Many researchers have tried to establish criteria for the evaluation of genetic counseling and the assessment of its success. Most studies focused on counseling outcomes mainly educational and reproductive variables. In the present study we introduced the concept of "perceived personal control" (PPC), which captures a wider and more meaningful range of effects of genetic counseling. It was found to be central to coping with health threats and to adapting to a broad spectrum of health problems. This study investigated 154 counseling cases. Counselees were requested to complete pre- and post-counseling questionnaires consisting of a knowledge test, measures of PPC, expectations/evaluations of counseling, and satisfaction with the procedure. Comparisons of mean PPC scores before and after counseling showed significant increases. Higher post-counseling PPC was found among counselees who had been given a definite diagnosis, a specific recurrence risk, and been offered prenatal diagnosis. Post-counseling PPC also correlated with knowledge, satisfaction, counseling evaluations, and expectation fulfillment. The findings suggest that PPC is a valid measure for the evaluation of genetic counseling outcomes. The psychometrically reliable scales developed in this study can become helpful tools for assessing genetic counseling both in research and in clinical practice, helping the counselor evaluate the counseling session and focus on the counselees' needs.

Pre-marital genetic counselling to consanguineous couples: attitudes, beliefs and decisions among counselled, noncounselled and unrelated couples in Israel.

Semi-structured interviews were conducted with 65 Israeli subjects who received genetic counselling while considering marriage to a close relative, 40 subjects married to a close relative who did not receive pre-marital genetic counselling, and 125 controls married to a nonrelative and never having considered marrying a relative. It was found that 72% of the consanguineous couples who received pre-marital genetic counselling proceeded with their plans and married their relative; 86% of them reported that the counselling influenced their final decision to some degree. Counsellees' appraisals of genetic counselling revealed unfulfilled expectations to obtain more definitive answers, and mixed reactions to the nondirective approach applied by the counsellors. Comparisons between consanguineous and control couples revealed different views about consanguinity in general, and genetic risks in particular. Consanguineous couples, unlike controls, perceived consanguinity as an ordinary form of marriage, and had more favorable attitudes towards it. Compared to the noncounselled consanguineous group, consanguineous couples who received pre-marital genetic counselling had fewer children, estimated their genetic risk as lower but its subjective significance as higher, and perceived genetic disorders as more severe. The implications of these results are discussed from both theoretical and practical standpoints.

The development of a patient knowledge test on maternal phenylketonuria.

A short multiple-choice knowledge test on maternal phenylketonuria was developed and validated. It was administered to 49 young female patients participating in a longitudinal study. The test was analyzed for its psychometric qualities and was found to be reliable: Cronbach alpha 0.62. Its validity was indicated by a moderate correlation with IQ scores (r = 0.40) and by its significantly differentiating between subjects who participated in patient education group meetings and those who did not. Items varied in difficulty, indicating which areas of knowledge need special educational efforts. The test was recommended for use to assess patients' knowledge, to identify misconceptions that appear to be remedied by patient education, to stimulate group discussions and to help evaluate educational programs.

Attitudes of asthmatic and nonasthmatic adolescents toward cigarettes and smoking.

A comparison study was made between attitudes of asthmatic and nonasthmatic adolescents toward cigarettes and smoking. Subjects were 67 asthmatic 9th- to 12th-grade students, of whom 38 (57%) had active asthma with recurrent cough and/or dyspneic attacks and 29 (43%) had reactive airway disease and/or the least severe form of asthma expressed by recurrent cough. The control group included 62 nonasthmatic students from the same high school. All subjects completed a questionnaire to determine attitudes, beliefs, and intentions regarding smoking. Their responses suggested that the group at highest risk of becoming smokers were those who had previously had asthma. The same adolescents had a more positive attitude toward cigarettes and smoking, a stronger intention to become smokers, and a self-image more closely linked with their perceptions of smokers. Thus, these adolescents may represent a high-risk group for becoming smokers in the future.

[Psychosocial characteristics of phenylketonuric women: birth defect prevention].

Women with phenylketonuria (PKU) are at high risk for having offspring with mental retardation, microcephaly, heart defects and low birth weight. These adverse outcomes can be prevented by a low-phenylalanine diet started before conception and continued throughout pregnancy. In view of the frequency of poor dietary compliance in women with PKU, a psychosocial model was developed that delineates developmental stages with specific behavioral goals for them to follow. In the present study 15 women with PKU over the age of 16 were followed for 3 years and compared to groups of their healthy acquaintances and of diabetic women. Structured interviews and standard questionnaires were used to study factors hypothesized as being related to the subjects' adjustment and to achievement of their PKU-related behavioral goals. After 1 year most of the PKU subjects were not planning a pregnancy, making their main behavioral goal the prevention of an unplanned pregnancy. Their knowledge of the risks of maternal PKU and family planning was unsatisfactory. PKU subjects had more conservative attitudes about sex and contraception than the controls. The psychosocial profile of PKU subjects pinpointed their special needs and indicated the kinds of specific intervention that might help them adhere to the recommended treatment and prevent birth defects in their offspring.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Treatment of maternal phenylketonuria (PKU) consists of a low phenylalanine diet, begun before conception, which is believed to prevent mental retardation, microcephaly, and congenital heart disease in offspring of women with PKU. Experiences in treating these women indicate that their cooperation with medical recommendations is generally poor. We present a psychosocial model on adjustment and coping in maternal PKU. The proposed model defines four stages in the reproductive years of women with PKU, each of which has specific behavioral goals. The four stages are: (1) prevention of unplanned pregnancies; (2) reproductive decision-making; (3) diet initiation; and (4) diet continuation through pregnancy. Review of the literature on the different behaviors expected at the different stages enabled indentification of psychosocial factors that may explain success or failure in achieving the goals at each stage. Based on this theoretical framework, practical implications for treating women with PKU have been suggested.

Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies.

BACKGROUND: Women with phenylketonuria (PKU) not treated prior to conception can have a pregnancy that results in serious fetal damage. In this report, factors associated with preventing unplanned (and hence late treated) pregnancies are described. METHODS: Subjects included 60 phenylketonuric women and two comparison groups composed of female acquaintances and diabetic women. All were interviewed and administered tests of intelligence, general well-being, knowledge, and personality. RESULTS: Thirty-five percent of the sexually active women with PKU used contraception only sporadically. The variables that best predicted reported frequency of birth control use were the extent to which women felt social support to use contraception (r = .64) along with positive attitudes about birth control (r = .66) and knowledge of family planning (r = .43). For the comparison groups, a different pattern of variables predicted contraceptive use, with locus of control figuring most prominently for the diabetics (r = .39) and social support for birth control being most important for the acquaintances (r = .46). CONCLUSIONS: As more girls with PKU enter childbearing ages, there will be an increased need for specific programs that address psychosocial factors in maternal PKU.

Group work with adolescent PKU girls and their mothers.

Group therapy was the method chosen for working with PKU girls and their mothers in improving their knowledge of maternal PKU and the prevention of unplanned pregnancies. It was found effective in relieving anxiety, and the importance of including the mothers in the group was critical.

Emotional reactivity and debilitating beliefs during hospitalization predict future adjustment to first myocardial infarction in men.

Research efforts are being made to identify personality and cognitive variables predictive of poor adjustment following myocardial infarction. Sixty-two male patients were examined after a first and uncomplicated myocardial infarction to determine whether dispositional emotional reactivity and debilitating beliefs measured during hospitalization can predict work engagement, social activities involvement, and ambulation/independence six months later. A structural model with direct paths between emotional reactivity, debilitating beliefs, and the above outcomes, as well as partial mediation of emotional distress and illness preoccupation, was tested using the CALIS procedure. The model explained 33%, 48% and 82% of the variance in the three outcomes, respectively. Work engagement was indirectly related through emotional distress to earlier emotional reactivity and debilitating beliefs. Social activities involvement was both directly and indirectly related through emotional distress to debilitating beliefs; and also indirectly related through emotional distress to emotional reactivity. Ambulation/independence was directly and negatively related to debilitating beliefs. Prolonged emotional distress was predicted by emotional reactivity and debilitating beliefs. Illness preoccupation turned out to be an independent outcome that was positively related to emotional reactivity. Thus, measuring dispositional emotional reactivity and debilitating beliefs at the hospitalization stage may be helpful in detecting patients at risk of poor future adjustment.

Psychosocial factors in maternal phenylketonuria: women's adherence to medical recommendations.

OBJECTIVES: This study identified factors predicting adherence to medical recommendations in maternal phenylketonuria, which can result in severe fetal damage. METHODS: Sixty-nine women with phenylketonuria, 68 of their acquaintances, and 69 women with diabetes mellitus were interviewed annually for 5 years. A model in which each stage in the maternal phenylketonuria life cycle represented a treatment-related goal provided a means to assess adherence. RESULTS: At the stages of prevention of unplanned pregnancy, treatment initiation, and diet continuation throughout pregnancy, attitudes and social support were associated with adherence to medical recommendations. No specific variables were associated with outcome at reproductive decision making, but women with phenylketonuria were more likely to delay making a decision, resulting in unplanned and, hence, untreated or late-treated pregnancy. CONCLUSIONS: Women with phenylketonuria differed from their acquaintances and diabetic women in many respects, suggesting that special programs are needed. Greater emphasis on reproductive decision making is especially needed. Interventions that focus on improving social support networks and attitudes about treatment may increase adherence to recommendations.