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PubMed2004

Predictive testing for Huntington's disease: relationship with partners after testing.

This study focuses on the partner relationship of tested persons, 5 years after their predictive test result for Huntington's disease (HD). We describe changes in marital status, quality of the relationship, and perceived changes in the relationship. Twenty-six carriers, 14 of their partners, 33 non-carriers, and 17 of their partners participated in the study. Qualitative and quantitative methods were used. For the majority of tested persons (about 70%), the marital status was unchanged 5 years post test. Overall, carriers rated the quality of the relationship higher than their partners did and they perceived more positive changes. Qualitative data show that a test result leading to changed roles may induce significant marital distress. Another consequence of the test may be the changes in dynamics in asymptomatic carrier couples. A pre-test discussion of the possible impact of the test result on the relationship should result in a better preparation for and more understanding of the reactions after testing. Counselling after testing should stimulate an open communication between partners with consideration of needs and anxieties of both partners.

Adult↗
PubMed1992

Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk.

Predictive testing for Huntington disease (HD) has been offered in some parts of Canada for nearly 5 years. Candidates who were expected to have a significant likelihood for psychological problems were those who received an increased risk for developing HD. Sixty-six persons have now received such an increased risk result. In this manuscript we describe in detail the experience of 4 such persons who were chosen to illustrate recurrent and common themes which have emerged during counselling, and to highlight the strategies of coping with this information. Themes include difficulties communicating about HD, defensive postures adopted in preparing for testing, ramifications of testing for the whole family, and the impact of being at high risk on the candidates' perception of the future. One candidate has had testing postponed due to active suicidal risk. Only a few candidates have expressed regret at taking the test and no person receiving an increased risk result has made a suicide attempt or required hospitalization. After receiving results, symptoms of depression and anxiety are most common in the first 2 months, but over 1 year, candidates, in general, have less depression but live with a heightened perception of the present. The potential risk of premature diagnosis of HD in an individual with an increased risk results is highlighted. The significant ramifications of testing for the relative are shown. The importance of communication as a means of establishing a social support network, as well as the hazards of open communication, are discussed. Longitudinal evaluation will provide much needed data on the long-term effects of living at increased risk for HD.

Adult↗
PubMed1992

A comparison of predictive tests of aerobic capacity.

This study examined the relationship among three predictive tests of aerobic capacity when analyzed within and across gender. Sixty-three active college students (37 males, 26 females) performed the multistage 20-metre shuttle run (SR), the Canadian Aerobic Fitness Test (ST), and the 1.5-mile run (DR). Predicted VO2max (ml.kg-1 x min-1) scores were obtained for each subject. Significant correlations were found among the VO2max results on all possible pairings of tests analyzed as a group, and by gender (p < .001) except for the females' SR and ST pairing (p > .05). One-way analysis of variance was performed for each of the three subject pools with significant F values for the grouped (F = 5.8, p < .01) and male (F = 30.7, p < .01) samples. Tukey HSD post hoc comparison identified significant differences among the SR and ST, and ST and DR VO2 max scores for both samples. However, there were no significant differences between the cell means when females were analyzed separately.

Adult↗
PubMed1989

Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia.

The discovery of DNA markers linked to the gene causing Huntington disease (HD) has allowed the development of predictive testing programs for persons at-risk. A pilot program was established in British Columbia in November 1986. Ninety-five persons are currently enrolled. The major objective of this project is to introduce and evaluate a protocol for the delivery of test results to persons at-risk for HD. The criteria for entry and details of the psychosocial assessment before and after receiving a modified risk are presented. The guidelines that are developed from this project will have major applications for predictive testing programs for other late onset autosomal dominant disorders.

British Columbia↗
PubMed1992

Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk.

By January 1, 1991, a total of 388 persons had enrolled in the Canadian collaborative study of predictive testing for Huntington disease (HD). Of these participants, 105 persons have been given a decreased risk result. Contrary to expectations, approximately 10% of persons with a decreased risk result have had psychological difficulties coping with their new status. Here, we describe the individual responses of 6 such persons and experimental themes emerging after following these persons for up to 2 years. Individuals who are more likely to suffer an adverse reaction to a decreased risk result include those persons who have made irreversible decisions based on the belief they would develop HD or those who had unrealistic overoptimistic expectations of the positive effects of a decreased risk result. In contrast to those receiving an increased risk result, the most vulnerable time for persons receiving a decreased risk result is between 2 and 12 months after learning the outcome. The need for assessment and counselling of participants in predictive testing programs, even when there is a decreased risk result, is emphasized.

Adult↗
PubMed2000

The effects of 'non-directive' questioning on an anticipated decision whether to undergo predictive testing for heart disease: an experimental study.

This study investigates how individuals can be helped to make decisions about predictive genetic testing. Participants (n = 120) rated how likely they would be to opt for predictive testing for heart disease if it were available, and other variables such as anxiety about heart disease. They received information on predictive testing for heart disease and ratings were repeated. Participants were then randomly allocated to one of three groups and focused on the personal relevance of positive issues or negative issues which had been mentioned as part of the standardised information previously given. The third group focused on issues irrelevant to testing for heart disease. The form of questioning used in this focusing manipulation was intended to model the processes involved in non-directive questioning. Results showed a significant increase in likelihood of testing in the positive group, and a significant decrease in the negative group. There was also a significant decrease in rated anxiety about heart disease and perceived severity of an increased susceptibility to heart disease of the negative group relative to the positive and control groups. The results may have implications for the ways in which pre-test counselling is carried out.

Adolescent↗
PubMed1994

Self-selection in predictive testing for Huntington's disease.

Several studies have reported favorable psychological reactions to predictive testing for Huntington's disease (HD). However, few at-risk persons have been tested, and there is evidence that some at-risk people avoid testing because they fear being unable to cope with the information. Favorable psychological reactions may result from self-selection of persons who believe they are better-equipped to handle "bad news." We surveyed 32 at-risk persons who had considered, but not chosen, testing and 66 persons who had been previously tested. Twelve persons decided not to be tested (No group); 20 persons postponed testing until some later date (Maybe group). Of the two untested groups, a significantly greater number of the No group had not been tested because they anticipated problems associated with their emotional reactions. The persons in the Tested group had less often anticipated problems with their emotional reactions; and among the minority who had anticipated some problems, most did not question their ability to cope. We conclude that the Tested persons are psychologically selected for favorable responses to genetic testing. Surveys of health professionals suggest that a sizable minority would disclose genetic disease risk whether or not people want it. Thus, people who would not choose to be tested might be persuaded to do so, or have results thrust upon them. We should be wary about assuming that the generally favorable reactions to HD testing will continue when testing becomes more widespread, as is likely to happen with simplification of the technology and acceptance of these tests by the medical community.

Adult↗
PubMed2005

Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test.

This study evaluated illness representations, distress, and health-related behavior one year after disclosure of a predictive genetic test result for hereditary nonpolyposis colorectal cancer (HNPCC) in 36 carriers and 36 noncarriers. Post-test, no significant differences between carriers and noncarriers were found in perceived risk and perceived seriousness of colorectal and endometrial cancer or in perceived control over endometrial cancer. Confidence in the controllability of colorectal cancer by means of medical examinations was higher for carriers than noncarriers post-test. Mean levels of distress (cancer-specific distress, state anxiety, psychoneuroticism) were within normal ranges and none of the participants had an overall pattern (on all scales) of clinically elevated levels of distress. Carriers had significantly higher cancer-related distress one year posttest than noncarriers. In both groups, colorectal cancer-related distress decreased. Noncarriers additionally showed decreased endometrial cancer-related distress and state anxiety. Within the year after testing, none of the noncarriers had a colonoscopy and all carriers where adherent to the recommendations regarding colorectal cancer screening. Although interview data delineated individually different problems specifically related to predictive testing (e.g., worry, difficulties in relation to other relatives, burden of regular follow-up), generally, predictive testing for HNPCC does not seem to induce major psychological problems. Moreover, the presented data are promising regarding the impact on health-related behavior.

Adolescent↗
PubMed1996

Predictive testing for respiratory sensitization in the mouse.

Attempts to develop predictive test methods for the identification of chemical respiratory allergens have to date focused almost exclusively on the guinea pig. In recent years there has, however, been a growing interest in the mouse as a model for examination of sensitization potential. In this article two alternative approaches to the toxicological investigation of respiratory sensitization are described. Both are based on an understanding of the nature of immune responses induced in mice by chemical allergens. The mouse IgE test seeks to identify chemicals capable of causing allergic sensitization of the respiratory tract as a function of induced increases in the serum concentration of IgE. The second approach, cytokine fingerprinting, makes use of the observation that chemical allergens of different types provoke in mice qualitatively divergent immune responses characterized by discrete cytokine secretion profiles.

Allergens↗
PubMed1994

Psychological costs and benefits of predictive testing for Huntington's disease.

The impact of predictive genetic testing for Huntington's disease (HD) was assessed in 68 persons at high (n = 17) or low risk (n = 51) for the disease at one to six years following disclosure of test results. There was consensus in both groups that knowledge of HD genetic status was beneficial. A majority of persons felt relief from wondering and uncertainty. High-risk persons identified greater family closeness and financial security. For low-risk persons, the knowledge that their children were spared offered great consolation. Negative effects in high-risk persons were psychological burden (worry, guilt). Even for low-risk subjects, there was a period of adjustment and, in some, disappointment that low risk had not alleviated problems unrelated to HD. Although the majority of marriages were unaffected by testing, some persons in both groups reported that their marriages sustained positive or negative impact. Despite mixed consequences, most did not regret being tested. The benefits of testing appear to outweigh its drawbacks, at least among this self-selected group of research participants. We also must conclude, however, that predictive genetic testing will result in negative as well as positive consequences, regardless of test outcome.

Adult↗
PubMed1999

The evaluation of the 'stages of change' model for use in counselling client's undergoing predictive testing for Huntington's disease.

Nurses are increasingly working in new and novel situations which may be outside the realms of traditional nursing practice. Therefore when evaluating theories and models that may be utilized in these situations it may be necessary to look beyond established nursing theories and concepts. This paper therefore attempts to evaluate Prochaska & DiClemente's (1983) stages of change model for its goodness of fit when counselling people as part of the predictive testing programme for Huntington's disease. The model demonstrates that in order to provide effective communication it is important to recognize the particular stage a client is at in his/her decision-making process concerning predictive testing. The relevance of the model to generic genetic counselling in nursing practice is discussed and the importance of stage-matched nursing interventions is emphasized. The model's non-reliance on the medical model or the concept of illness means that it may also be a useful model when applied to other nursing situations.

Adaptation, Psychological↗
PubMed2000

Predictive testing for familial adenomatous polyposis in a rural South Indian community.

During the course of genome studies in a rural community in the South Indian state of Karnataka, DNA-based investigations and counselling for familial adenomatous polyposis (FAP) were requested via the community physician. The proposita died in 1940 and FAP had been clinically diagnosed in 2 of her 5 children, both deceased. DNA samples from 2 affected individuals in the third generation were screened for mutations in the APC gene, and a frame-shift mutation was identified in exon 15 with a common deletion at codon 1061. Predictive testing for the mutation was then organized on a voluntary basis. There were 11 positive tests, including confirmatory positives on 2 persons diagnosed by colonoscopy, and to date surgery has been successfully undertaken on 3 previously undiagnosed adults. The ongoing success of the study indicates that, with appropriate access to the facilities offered by collaborating centres, predictive testing is feasible for diseases such as FAP and could be of significant benefit to communities in economically less developed countries.

Adenomatous Polyposis Coli↗
PubMed1998

Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales.

In Wales, predictive testing for Huntington's disease (HD) has not been offered proactively to families and uptake of testing is low in comparison to other centres. Little is known of those not requesting testing, particularly those not in direct contact with the genetics service. This study examined differences between a cohort of 22 test applicants and a random group of 32 'non-requesters', drawn from the South Wales HD register. Respondents were interviewed by means of a semi-structured schedule in their own homes. The study groups differed significantly on a number of variables including: knowledge of the availability of testing; perceived attitudes of family members and significant others to testing; length of knowledge and perceived stressfulness of being at risk; and perceived ability to cope with an unfavourable result. Overall, knowledge of testing procedures was poor and at-risk individuals' understanding of genetic terminology was at odds with scientific distinctions. Discussion focuses on the organisational and psychological factors associated with lack of knowledge of the availability of testing and the interpretation of reported coping capacities.

Adult↗
PubMed1998

Development of fatigue lifetime predictive test methods for hip implants: part I. Test methodology.

The fatigue failure of hip joint prostheses will be expected to assume more importance in second generation implants aimed at younger, more active patients. Furthermore, new designs and material combinations including coatings (e.g. hydroxyapatite) may introduce fatigue problems that as yet have not been considered. The current research makes an initial attempt to develop accelerated fatigue testing procedures to enhance the methodology of hip implant lifetime prediction. Tests conducted on a 'model' four point bendbar testpiece (mill-annealed Ti-6A1-4V) highlighted that the accelerated test must be conducted in a physiological solution such as Ringer's at 37 degrees C. The introduction of superimposed block overloads (50 cycles) to signify stair ascent/descent or fast walking and single overloads to signify sit/stand movements or stumbling were found to reduce fatigue life by > 50%. The findings of this fatigue study were combined with biomechanics studies to construct a variable amplitude 'in-service' load spectrum for testing hip implants. Using ambulatory trial data, a simple load sequence was designed containing 4 single (sit/stand movements) and 3 block (stair ascent/descent) overloads that repeated ten times gave one days activity; single overloads repeated every 110 base cycles (normal walking) and block overloads 80, 110 (morning/evening) and 250 (daytime) base cycles.

Alloys↗
PubMed2001

Early post-traumatic acute respiratory distress syndrome and albumin excretion rate: a prospective evaluation of a 'point-of care' predictive test.

All patients sustaining major trauma exhibit increased capillary permeability, manifested as micro-albuminuria. Urinary albumin excretion rate (AER) measured on intensive care units (ICU) can predict early post-traumatic acute respiratory distress syndrome (ARDS). This prospective study sought to evaluate AER as a practical predictive test for early ARDS. Staff at the participating centres were trained in the use of the Behring Turbitimer and the concept of AER as a predictor of early post-traumatic ARDS. AER was measured every 2 h for the first 24 h, on 54 adult blunt trauma admissions (ISS>/=18). A diagnosis of early acute lung injury (ALI) or ARDS was made using the American-European Consensus Conference criteria. Eleven patients developed ARDS, ten developed ALI, and 23 had no pulmonary dysfunction. The AER was significantly greater in those who developed ARDS 8 and 18 h after admission. The positive predictive value of the test was 64% at 8 h, the negative predictive power 73%. The test was performed most consistently in the middle 10 h of the study period. If intervention had been based on the 8 h data point result, 75% patients who had the test performed and later developed ARDS would have had intervention appropriately. In principle, testing for AER as a predictor of post-traumatic ARDS on ICU is feasible, however, this study has underlined the challenges of introducing new concepts into the ICU environment.

Albuminuria↗