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PubMed1993

Normal tension glaucoma: the value of predictive tests.

Fifty-four normal tension glaucoma cases were studied to determine the value of several clinical tests for predicting the progression of the disease. Outflow facility, intraocular pressure (IOP) increase after water drinking, and diurnal changes in IOP were studied. Progression was determined on the basis of changes in visual sensitivity as measured on the Octopus 201. A minimum of four examinations of the central 30 degrees were conducted over a 3- to 7-year period. Progression of visual field defects was seen in 38.5% of eyes that had demonstrated some degree of abnormality in at least one of three clinical tests, while only 10.7% of those eyes that appeared normal on the basis of these tests showed such progression. The difference was significant (p < 0.04). These results suggest that the three clinical tests may be of value in detecting normal tension glaucoma eyes at risk for progression of visual field defects.

Adult↗
PubMed1995

Exploration of the effects of predictive testing for Huntington disease on intimate relationships.

The focus in predictive testing for Huntington disease is beginning to shift from individuals at risk to an examination of the effects on other relatives, particularly on spouses and partners. We examine the effects of participating in a predictive testing program for 25 couples. When assessed prior to testing, spouses were significantly more depressed than their at-risk partners. After pretest counseling, 6 (24%) of the couples chose not to pursue testing. At baseline, these 6 couples had significantly higher levels of psychological distress and marital dysfunction than couples who did choose to complete testing. Of the 19 couples completing testing, 5 received an increased risk result and 14 received a decreased risk result. Prior to testing, the partners of individuals who later received an increased risk result exhibited higher levels of marital distress. At 3- and 6-month follow-ups, high-risk couples were significantly more distressed than low-risk couples. These levels of distress improved somewhat at 9 months after testing, but began to climb again at 12 months. Individuals at increased risk were significantly more distressed at all points during follow-up as compared to individuals at low risk. No significant differences were found between the partners of high- and low-risk individuals at 3, 6, 9, and 12 months after disclosure.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2003

Predictive testing for BRCA1 and 2 mutations: a male contribution.

BACKGROUND: Management strategies for women carrying BRCA1 and 2 mutations are becoming clearer and predictive testing for a known family mutation is commonly undertaken. Implications for men are not as clear and they participate less frequently. PATIENTS AND METHODS: Twenty-six men from 10 extended families underwent predictive testing. Their motivation, reaction and outcome were studied. Subjects had appropriate pre- and post-test counselling. Informed consent was obtained before predictive testing for known deleterious mutations. DNA analysis followed standard procedures. RESULTS: Eighteen tested positive and eight negative. Four had adverse psychological reactions and three reneged on their commitments to impart results. The spouse of another man had an adverse psychological reaction to the disclosure of his positive result. Two, already suffering from prostate cancer, were phenocopies and paternal lineage transmission was unexpectedly determined in another. Risk was removed from 33 offspring and confirmed for 56. CONCLUSIONS: Complex themes associated with genetic testing are confirmed and the spectrum extended. Men appear to understand the importance of participating in this process. Methods of avoiding adverse reactions merit further study along with other aspects of the process.

Adult↗
PubMed1998

Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals.

About a decade ago the introduction of predictive testing for Huntington's disease (HD) was an important milestone in medical history. The aim of the present paper concerning predictive DNA-testing for HD is fourfold. First of all it describes the professional challenge of elaborating an adequate test protocol and of permanently using a multidisciplinary approach to deal with predictive test requests. Secondly the paper is aimed at unraveling the factors that play a part in uptake and decision making regarding predictive testing. Hereby the Health Belief Model is used as a framework for understanding differences between tested and untested persons. Thirdly the impact of the test result on psychological well-being is reviewed. Finally this paper assesses the utilisation of prenatal diagnosis after predictive testing for HD and reflects on the psychological and ethical implications of different types of prenatal tests, including preimplantation genetic diagnosis.

Adult↗
PubMed2003

Ambiguous loss and disenfranchised grief: the impact of DNA predictive testing on the family as a system.

DNA predictive testing to diagnose the presence of hereditary disease in asymptomatic individuals has become increasingly available. Information provided by these tests has implications for all relatives. In an exploratory study we examined the impact, from the family's perspective, of predictive DNA testing for Huntington disease on the family as a system. Central to their stories was a sense of loss and grief that was perhaps unique to the testing situation. The description of these losses is presented in the context of ambiguous loss as defined by Boss, disenfranchised grief as presented by Doka, and anticipatory grief as addressed by Rolland. These theories suggest clinical interventions that can be used by healthcare professionals to help families adjust to the psychosocial consequences of testing.

Caregivers↗
PubMed1984

Potential impact of a predictive test on the gene frequency of Huntington disease.

Fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given in-depth structured interviews to survey attitudes toward use of a predictive test and to assess the possible impact of such a test on the number of gene carriers born. Three-quarters of the sample said they would take predictive test. Given a positive predictive or prenatal test, the number of individuals choosing to have children is reduced from 80% of the total sample to 42%, or by almost one-half. The large proportion of at risk individuals who say they would use a predictive test underscores the importance of developing guidelines for its administration prior to implementation.

Adult↗
PubMed1992

One hundred requests for predictive testing for Huntington's disease.

In Grampian region, the first 100 requests for predictive testing for Huntington's disease have been analysed. Forty-five presymptomatic predictive test results have been given, eleven families have made a decision to undergo prenatal exclusion tests, and so far eleven pregnancies have been investigated using chorion villus biopsy. This paper presents the protocol used and a descriptive analysis of those receiving results, those choosing to leave the programme, and those unable to complete it because of an unsuitable family structure or unco-operative relatives.

Adult↗
PubMedDate not supplied

Non-participation in predictive testing for Huntington's disease: individual decision-making, personality and avoidant behaviour in the family.

Subjective risk perception, perceived impact of Huntington's disease (HD), perceived benefits and barriers of predictive testing and personality characteristics of persons withdrawing from the predictive test programme for HD and of siblings of test applicants were studied in a mailed survey. The belief that important decisions do not need to depend on a test result and the anticipated inability to cope with a bad result played an important role in the decision not to be tested. Nevertheless half of the group who ever considered testing, still planned to undergo a test in the future. A comparison of tested and untested persons revealed that the first group is more likely to overestimate the risk than the second group, but that both groups did not significantly differ from each other regarding anxiety, ego strength and coping strategies. An intrafamilial analysis of tested and untested siblings confirmed these findings. The problems during data collection and the reasons for the dropout are an illustration of the avoidant behaviour regarding HD and the predictive test in many individuals and families.

Adult↗
PubMed1976

Predictive tests in Huntington's disease.

HD is a dominantly inherited disorder that affects mental and motor systems and includes a rigid form as well as the better known choreic form. Many articles have been devoted to predicting the future onset of the disease in patients who are at risk, but none of the suggested predictors is currently considered completely reliable. Members from individual families do tend to show a similar age of onset, and similar intellectual and motor abnormalities do develop within a single family; but the presence or absence of this dominant gene of high penetrance is not usually certain until the obvious physical signs appear. Predictive tests are of importance not only to decide which person may develop the disorder, but they may also offer a clue to associated or causal features of the disease. This chapter is a review of reported predictive tests in HD, emphasizing the rationale for their use. Psychological testing has often been abnormal early in the course of the disease of some patients, particularly when motor dexterity or apraxia is tested. Family members often insist that various psychological traits enable them to predict which members are affected by the gene. These opinions are summarized. Neurophysiologic tests are briefly reviewed, including new data on increased liklihood of H-reflexes in HD. Electroencephalography was once touted as a possible predictive test but, although there is frequently an association of a low voltage EEG activity with HD, this change is too variable for certainty in prediction. Pneumoencephalography with specific measurements of caudate atrophy is of clinical interest, but a pneumoencephalogram is rarely needed for diagnosis and caudate atrophy may not actually be an early sign. Metabolic changes in HD include the biochemical effects of hypothalamic dysfunction, changes in growth hormone, and reported change in GABA levels in the CSF or brain. Provocative tests have utilized numerous drugs in an attempt to predict the onset of the disease, including particularly physostigmine and L-DOPA. All of the tests elucidate peculiarities of the disease, and all are of ethical as well as neurological interest. Many of the provocative tests utilize quantification of known neurologic features of the disease, such as reduction in saccadic movements of the eye, increased reflexes, or patterns of movement. The ethical problems in predictive tests, especially tests intended to provoke features of the disease, have been a matter of quiet controversy. Should a nontreatable disease be overtly diagnosed? And if so, will it benefit the patient? Can any of the tests tend to accelerate the patient's decline, either by physical or by psychological trauma? This chapter reviews the various predictive tests and their rationale and concludes that none of the tests are totally reliable. Many offer interesting insights into the effects of HD and do broaden the overall significance of this fascinating disorder of basal ganglion function.

Age Factors↗
PubMed1985

Prognostic relevance of ploidy, proliferation, and resistance-predictive tests in ovarian carcinoma.

In a cooperative study specimens of 37 patients with stage III and IV ovarian carcinomas who had been treated with chemotherapy were investigated utilizing flow cytometry and an in vitro short-term test for predicting resistance. Patients with aneuploid tumors had significantly shorter survival rates than did those with diploid tumors. Patients whose tumors showed a low G0/G1 cell proportion or a high proliferation pool (S- and G2/M cell-proportion) seemed to die earlier. There was also a tendency for patients with in vitro resistant tumors to die earlier under chemotherapy than those with sensitive tumors.

Adult↗
PubMed1993

In vitro antiproliferative effect of interferon alpha in solid tumors: a potential predictive test.

An in vitro test for the antiproliferative effect of human leukocyte interferon (IFN-alpha) was performed in primary cultures of tumor cells obtained from 32 patients with either malignant melanoma (13), renal carcinoma (4) or bladder carcinoma (15). Our results demonstrated activity of IFN in all three groups of solid tumors. However, appreciable differences in sensitivity to antiproliferative effect of IFN between individual tumors of the same type were found. The potential of this antiproliferative test for prediction of treatment response in IFN-therapy is discussed.

Adult↗
PubMed2004

Prevalence of major depression one year after predictive testing for Huntington's disease.

Psychiatric hospitalizations, completed suicides, and suicide attempts are rare after predictive testing for Huntington's disease (HD). Case studies have shown that major depression can be a consequence of being tested, although no studies have shown how common this is. The present study evaluated the prevalence of major depression during the first year after disclosure. We conducted retrospective data and chart reviews of 153 persons (50 testing positive, 103 testing negative) evaluated every 3 months for depression. There was no significant baseline difference in the percentage of "positives" and "negatives" who had pre-testing major depressive episodes (14% vs. 12%, respectively). A senior psychiatrist reviewed data from the Schedule for Affective Disorders and Schizophrenia-Change Version, from the Beck Depression Inventory, and from clinical notes for every follow-up contact completed. The 1-year prevalence of major depression among positives was 6.0%, compared to 3.0% among negatives (p = 0.30), and an estimated 3% population prevalence. One-year prevalence of clinically significant depressive symptoms, whether or not major depression was diagnosed, was 20.0% in positives and 12.6% in negatives (p = 0.17). Although not statistically significant, depressive symptoms and major depression occurred more frequently among those who tested positive. Despite some evidence to the contrary, including our own studies, a positive predictive test for HD is not psychologically benign. Clinical testing programs should assess patients for depressive symptoms after testing, and patients with clinically significant complaints should be referred to a mental health professional.

Adult↗
PubMed2004

Predictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impact.

This paper describes the motivation, recall of cancer risks, and illness representations of 40 individuals who had a predictive test for hereditary non-polyposis colorectal cancer (HNPCC) as well as the short-term impact of predictive testing by means of a semi-structured interview and self-report questionnaires. The main motives for predictive testing were early detection of cancer, knowledge of the children's risk and reduction of uncertainty. Overall, recall of cancer risks was good. Measurements of illness representations revealed low perceptions of "threat" of cancer and high confidence in the controllability of the disease. Distress was within normal ranges. Distress decreased significantly from pre- to post-test in non-carriers and did not in carriers. It also decreased in individuals for whom "reducing uncertainty" was a very important motive for the test, not in the others. Although part of the carriers did not have colonoscopies, all carriers intended to have regular colonoscopies in the future.

Adaptation, Psychological↗
PubMed2001

Primacy Effects in Justice Judgments: Testing Predictions from Fairness Heuristic Theory.

We tested predictions from fairness heuristic theory that justice judgments are more sensitive to early fairness-relevant information than to later fairness-relevant information and that this primacy effect is more evident when group identification is higher. Participants working on a series of three tasks experienced resource failures that interfered with their productivity and always had the possibility of explaining problems to a supervisor. In a manipulation of the timing of fairness-relevant experiences, the supervisor refused to consider explanations on the first, second, or third of three work trials (but did consider explanations on the other two trials) or the supervisor never refused to hear the explanations. Prior to the work periods, the participants either had or had not undergone a manipulation designed to induce greater identification with the work group. As predicted, the timing of fairness-relevant experiences showed a primacy effect on fairness judgments and acceptance of authority in the high identification conditions and no evidence of such an effect in the low identification conditions. The implications of the findings for understanding the psychology of justice and for real-world justice phenomena are discussed. Copyright 2001 Academic Press.

Journal Article↗
PubMed2005

An exploratory comparison of genetic counselling protocols for HNPCC predictive testing.

Most UK genetics centres offering predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) use an extended counselling protocol originally developed for Huntington's disease. Shortened counselling may be more appropriate in the context of treatable genetic conditions such as HNPCC. Twenty-six high-risk individuals were randomized to extended genetic counselling (two sessions of education and reflection held 1 month apart) or shortened genetic counselling (a single educational session) prior to HNPCC testing. Prospective questionnaires, interviews and transcripts of counselling sessions were analysed. Participants were unsure what to expect prior to genetic counselling and had already decided to undergo genetic testing. There was no evidence of psychological harm caused by shortened genetic counselling, with a high level of satisfaction with the counselling received in both groups. Reflective counselling occurred in both groups but was framed in terms of practical action and information. Participants expressed differing preferences for the level of information received. This exploratory study indicates that shortened genetic counselling may be an appropriate means of supporting decisions already made by individuals about HNPCC testing. However, participants would benefit from preparatory information to help them reflect on issues not previously considered, which can then be explored more fully as part of a tailored counselling approach.

Adult↗
PubMed1986

Long-term bromocriptine therapy and predictive tests in acromegaly.

The value of predictive tests in bromocriptine therapy and the effects of long-term bromocriptine therapy were investigated in acromegalic patients. In 72 acromegalic patients, there was a tendency for patients with a plasma GH response to TRH or with an elevated basal plasma PRL level, but without a plasma GH response to LHRH, to have a plasma GH response to bromocriptine, though statistical analysis did not reveal a significant difference. Acute and chronic effects of bromocriptine were significantly interrelated, while the chronic effect of bromocriptine and abnormal plasma GH response to TRH or elevated plasma PRL levels were not, in 18 acromegalic patients. These results suggest that the acute bromocriptine test is a better predictor than the TRH test and plasma PRL levels for evaluating the effects of chronic bromocriptine therapy. To maintain the low plasma GH levels, increasing doses of bromocriptine were needed in most patients, and failure to control the elevated GH level despite increasing doses was observed in 2 of 18 patients.

Acromegaly↗
PubMed1987

Attitudes of persons at risk for Huntington disease toward predictive testing.

Attitudes of 69 persons at risk for Huntington disease (HD) were obtained by means of semistructured interviews and questionnaires. About 79% of the individuals said that they would use a presymptomatic predictive test if it were available. All believed that the test should be made available even though there was no cure for HD. Nearly 2/3 of subjects would use the test for prenatal diagnosis, and of these 71% would terminate a pregnancy if the fetus was found to carry the HD gene. Most subjects believed that pretest counseling should be mandatory and many said that testing should be withheld from persons who were psychologically unstable or were threatening self-harm. The data suggest that about 2-6% of persons at risk for HD may have severe psychiatric or suicidal responses to a positive outcome of predictive testing. This underscores the need for adequate pretest counseling and the availability of professional and community resources to deal with the impact of predictive testing on individuals and their relatives.

Adult↗
PubMed2005

Psychodynamic theory and counseling in predictive testing for Huntington's disease.

This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington's Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent-child experiences. The nature of these relationships, or attachments are reflected in adult expectations and relationships. Two significant concepts, identification and fear of abandonment, have been developed and expounded by the psychodynamic theorist, Melanie Klein. The processes of identification and fear of abandonment can become evident in predictive testing counseling and are colored by the client's experience of growing up with a parent affected by Huntington's Disease. In reflecting on family-of-origin experiences, clients can also express implied expectations of the future, and future relationships. Case examples are given to illustrate the dynamic processes of identification and fear of abandonment which may present in the clinical setting. Counselor recognition of these processes can illuminate and inform counseling practice.

Adult↗