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Biomedical subjects

S Michie

Publications and source records attributed to S Michie.

At least 37 records · Page 2Linked to original sources

Revealed identity: a study of the process of genetic counselling.

This paper describes a qualitative study of the processes employed within a genetic counselling consultation. These processes, it is argued, can be seen to provide the patient with a genetic identity. But unlike the new identity conferred by the diagnosis of many chronic medical conditions a genetic identity is presented as an old one that is now revealed. This represents a reversal of the stigmatising process: instead of a spoiled identity replacing an actual one, the genetic consultation involves revealing an actual identity in the place of a previously presumed one. In this way, genetic counselling reconstructs identity in the past as well as in the future.

Communication↗

Objectives of genetic counselling: differing views of purchasers, providers and users.

BACKGROUND: This study aimed to compare the views of purchasers, providers and users about the objectives of genetic counselling. METHODS: A modified Delphi technique was used, incorporating two postal questionnaires that were sent to six study groups with a three-month interval: purchasers (public health doctors (n = 37) and regional advisers in general practice (n = 35)); providers (clinical geneticists (n = 33) and genetic counsellors (n = 25)); and users (out-patients (n = 36) and members of genetic support groups (n = 32)). The response rate for the first questionnaire was 115/198 (58 per cent) and for the second, 102/198 (52 per cent). The first questionnaire asked an open-ended question about what the objectives of genetic counselling should be and asked respondents to rank order them. The second questionnaire summarized the views expressed in the first questionnaire and asked respondents to rank order the most frequently cited and most highly ranked five objectives. RESULTS: The five most frequently cited and highly ranked objectives from Questionnaire One were, in descending order: provide information, give support, facilitate decision-making, assess risk and achieve understanding. In response to Questionnaire Two, purchasers differed from providers and users in rating 'facilitate decision-making' more highly than did providers and users. By contrast, providers and users rated 'give information' more highly than did purchasers. CONCLUSIONS: Purchasers hold different views from providers and users about what the objectives of genetic counselling should be. This raises two questions: (1) Which views are or should be most influential in the future development of genetic counselling? (2) By what processes can more than one view on genetic counselling be integrated?

Attitude of Health Personnel↗

Genetic counselling: the psychological impact of meeting patients' expectations.

We know little about patients' expectations of genetic counselling, the extent to which these are met, and whether meeting expectations is associated with improved patient outcome. This study describes 131 consultations of patients referred to a regional genetics centre, and documents their expectations, the extent to which these are met, and the predictors and consequences of expectations being met. The outcomes assessed were state anxiety, concern about the problem for which the patient was referred, and satisfaction with information given. Patients came to genetic counselling expecting information (79%), explanation (63%), reassurance (50%), advice (50%), and help in making decisions (30%). The majority got what they were expecting: 74% had their expectation for information met, 56% had their expectation for explanation met, 60% had their expectation for reassurance met, 61% had their expectation for advice met, and 73% had their expectation for help with making decisions met. Patient expectations, and whether or not these were met, were not predicted by any of the patient or counsellor variables measured. When patients' expectations for reassurance and advice were met, patients were less concerned and their anxiety level was more reduced than when such expectations were not met. Meeting patients' expectations for information, explanation, or help with decision making were not associated with better outcomes. Explanations for these results and implications for the practice of genetic counselling are discussed.

Adult↗

Presentation of screen negative results on serum screening for Down's syndrome: variations across Britain.

OBJECTIVES: To document current practice of communicating screen negative results to pregnant women undergoing a test for Down's syndrome. SETTING: 169 British NHS hospital antenatal clinics currently offering multiple marker serum screening for Down's syndrome and giving results directly to women. METHODS: All 169 clinics were sent a letter asking about the method and form of communicating screen negative results. RESULTS: In only 29% of programmes were specific arrangements made to inform women of screen negative results, and in 5% these results were not given at all. Screen negative results were given as a verbal phrase in 44% of programmes, as a risk figure in 16% of programmes and as both in 40% of programmes. CONCLUSIONS: These results highlight a gap between screening policy guidelines and practice in the case of Down's syndrome serum screening.

Communication↗

Nondirectiveness in genetic counseling: an empirical study.

Nondirectiveness is considered an essential part of genetic counseling, yet there is no generally accepted definition nor data documenting its impact on counselees. This study is an empirical investigation of directiveness, using ratings from transcripts of consultations and comparing these with counselor-reported and counselee-reported directiveness. Rated directiveness was defined as advice, expressed views about or selective reinforcement of counselees' behavior, thoughts, or emotions (advice, evaluation, and reinforcement). Analysis of 131 transcripts revealed a mean of 5.8 advice statements per consultation, 5.8 evaluative statements, and 1.7 reinforcing statements. When asked to describe their counseling style, none of the 11 counselors rated it as "not at all" directive. Half the counselees who faced a decision felt steered by the counselor. Items of rated directiveness showed satisfactory interrater reliability (kappa = .63). Factor analysis revealed that they formed one factor (eigenvalue 1.72). There were no associations either between counselor-reported, counselee-reported, and rated directiveness or between these measures and counselee anxiety and concern, satisfaction with information, or the meeting of counselees' expectations. Rated directiveness was the only measure to be associated with other process measures of the consultation, being associated with longer consultations, more blocks of speech, more social and emotional issues being raised, and fewer concerns being followed up. Advice was more likely to be given to counselees of lower socioeconomic status and to counselees judged by counselors to be highly concerned. Evaluative statements were more likely to be made by counselors who had received counseling training. These results show that genetic counseling was not characterized--by counselors, counselees, or a standardized rating scale--as uniformly nondirective.

Genetic Counseling↗

A developmental switch in lymphocyte homing receptor and endothelial vascular addressin expression regulates lymphocyte homing and permits CD4+ CD3- cells to colonize lymph nodes.

IN adult mice, the dominant adhesion molecules involved in homing to lymph nodes are L-selectin homing receptors on lymphocytes and the peripheral lymph node addressins on specialized high endothelial venules. Here we show that, from fetal life through the first 24 hr of life, the dominant adhesion molecules are the mucosal addressin MAdCAM-1 on lymph node high endothelial venules and its counterreceptor, the Peyer's patch homing receptor, integrin alpha 4 beta 7 on circulating cells. Before birth, 40-70% of peripheral blood leukocytes are L-selectin-positive, while only 1-2% expresses alpha 4 beta 7. However, the fetal lymph nodes preferentially attract alpha 4 beta 7-expressing cells, and this can be blocked by fetal administration of anti-MAdCAM-1 antibodies. During fetal and early neonatal life, when only MAdCAM-1 is expressed on high endothelial venules, an unusual subset of CD4 + CD3- cells, exclusively expressing alpha 4 beta 7 as homing receptors, enters the lymph nodes. Beginning 24 hr after birth a developmental switch occurs, and the peripheral node addressins are upregulated on high endothelial venules in peripheral and mesenteric lymph nodes. This switch in addressin expression facilitates tissue-selective lymphocyte migration and mediates a sequential entry of different cell populations into the lymph nodes.

Animals↗

Parents' responses to predictive genetic testing in their children: report of a single case study.

There is a widely held view among health professionals that predictive genetic testing of children for late onset diseases is not desirable clinical practice. Yet, little is known about the views of parents, or their responses, to predictive genetic testing in their children. Since such testing is being carried out in some genetic centres, the opportunity was taken to conduct a single case study of the parents of 2 and 4 year old sisters who were tested for the gene for familial adenomatous polyposis. Interviews before testing, after, and 15 months later showed a stable attitude, that parental responsibility included making decisions about such testing, and that the role of health professionals should be one of information giving rather than decision making. These parents had no regrets about having their children tested and reported no changes in their behaviour towards either the child who tested positively or the child who tested negatively. Using standardised scales, mood was found to be within the normal range both before and after testing in the mother and father. This case study is a first step towards systematic empirical studies determining the consequences of acquiescing to parents' requests for genetic testing in their children.

Adenomatous Polyposis Coli↗

Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant.

The two major intermediate filament proteins in glandular epithelia are keratin polypeptides 8 and 18 (K8/18). To evaluate the function and potential disease association of K18, we examined the effects of mutating a highly conserved arginine (arg89) of K18. Expression of K18 arg89-->his/cys and its normal K8 partner in cultured cells resulted in punctate staining as compared with the typical filaments obtained after expression of wild-type K8/18. Generation of transgenic mice expressing human K18 arg89-->cys resulted in marked disruption of liver and pancreas keratin filament networks. The most prominent histologic abnormalities were liver inflammation and necrosis that appeared at a young age in association with hepatocyte fragility and serum transaminase elevation. These effects were caused by the mutation since transgenic mice expressing wild-type human K18 showed a normal phenotype. A relative increase in the phosphorylation and glycosylation of detergent solubilized K8/18 was also noted in vitro and in transgenic animals that express mutant K18. Our results indicate that the highly conserved arg plays an important role in glandular keratin organization and tissue fragility as already described for epidermal keratins. Phosphorylation and glycosylation alterations in the arg mutant keratins may account for some of the potential changes in the cellular function of these proteins. Mice expressing mutant K18 provide a novel animal model for human chronic hepatitis, and for studying the tissue specific function(s) of K8/18.

3T3 Cells↗

Happy ever after.

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Data Collection↗

Evaluation of a programme of health measurements and advice among hospital staff.

This paper reports the evaluation of a pilot health promotion initiative among hospital staff. Health screening and advice were available during one week. Staff who attended completed a questionnaire about diet, alcohol, exercise, smoking, stress and health perceptions. They were randomly assigned to receive advice and set targets for changing their lifestyle or simply to be given their results. A sample of non-attending staff was sent the same questionnaire. Attenders were invited to return after six months. Of the 297 staff who attended the first session, 83 returned after six months. Of the non-attending staff, 192 returned a questionnaire. Attenders were older, more concerned and more knowledgeable about their health and under-represented by clinical and manual staff. Weight, exercise frequency and perceptions of health were related to the likelihood of re-attending. Those in the 'advice' group were more likely to lose weight and increase their exercise. It is difficult to achieve wide participation in health promotion activities but a simple intervention can have useful effects.

Evaluation Studies as Topic↗

Stress management for clinical medical students.

This study evaluates a new stress management course for medical students offered through the Occupational Health Unit, Royal Free Hospital, London. It was offered to students in their first clinical year, which has been shown to be a highly stressful time. The course took place over 3 weeks, with one 2-hour session each week. Students completed questionnaires about mood, attitudes and causes of stress at the beginning of the year, and again one year later. The uptake of this optional course was 17%. Attendees, compared with non-attendees, were more anxious, less satisfied with themselves and their life, and perceived both work and outside functioning to be poorer. Over this first clinical year, non-attendees became significantly more dissatisfied at work and increasingly perceived their functioning at work and outside to be poorer whilst attendees showed no such deterioration over the year. Attendees completed the questionnaires before and after the course, and at two time points prior to starting the course when on the waiting list. Improvements in reported work functioning were found after the course, and this change was significant compared with the waiting list controls. These results are consistent with the attendees' own reports that they found the course helpful. These results show that stress management provides long-term protective effects as well as short-term benefits.

Anxiety↗

Anxiety, knowledge and satisfaction in women receiving false positive results on routine prenatal screening: a randomized controlled trial.

The majority of women receiving an abnormal result on routine prenatal screening subsequently give birth to unaffected children. Previous studies have documented high levels of anxiety in women receiving such false positive results. In an attempt to reduce this anxiety, two methods of preparing women for undergoing such testing were compared: provision of detailed written information about maternal-serum alpha-fetoprotein testing; and anxiety management training. Eligible women were randomly allocated to one of five groups. Eighty-five women subsequently received false positive results on routine alpha-fetoprotein testing. There was some evidence that completing the study questionnaires had an anxiety-reducing effect. In contrast with the results of previous studies, there was no evidence that receipt of an abnormal alpha-fetoprotein result resulted in raised anxiety. Neither of the interventions, alone or in combination, had an effect upon anxiety following an abnormal alpha-fetoprotein result. Receipt of detailed written information however, led to women having more knowledge and being more satisfied with the amount of information that they had. One in three of the class groups reported that the classes had influenced the way they had dealt with worries. Although the interventions did not reduce anxiety in this study, there are other reasons for considering their incorporation into routine clinical practice.

Anxiety↗