[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities].
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Chromosome Aberrations↗
Biomedical subjects
E Birnie
Publications and source records attributed to E Birnie.
Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey.
In view of the increasing demands for genetic counselling and DNA diagnostics in cardiogenetics, the roles of cardiologists and clinical geneticists in the delivery of care need to be redefined. We investigated the preferences of both groups of professionals with regard to the future allocation of six cardiogenetic responsibilities in counselling and testing, using hypertrophic cardiomyopathy (HCM) as a prevalent model disease. In this cross-sectional survey, the participants were Dutch cardiologists (n = 643) and clinical geneticists (n = 60), all members of professional societies. Response rates were 33 and 82%, respectively. In both groups, the majority preferred to perform most of the tasks described above in collaboration. Informing HCM patients about the genetics of HCM and requesting DNA testing in symptomatic patients was viewed by 43 and 35% of cardiologists, respectively, as their sole responsibility, however, and 39 and 59% of clinical geneticists did not object to these views. Both groups felt that the task of discussing the consequences of HCM for offspring and that of discussing the results of DNA diagnostics should be shared or performed by clinical geneticists. Both groups considered co-ordination of family screening the sole responsibility of clinical geneticists. Opinions on who should request DNA diagnostics in asymptomatic relatives were divided: 86% of clinical geneticists considered it their exclusive responsibility, 10% of cardiologists believed that this task could be performed individually by either group and 30% preferred to collaborate. Most professionals said that they would appreciate education programmes and clinical guidelines. Both cardiologists and clinical geneticists prefer to share rather than divide most cardiogenetic responsibilities in caring for HCM patients. Consequently, capacity problems in both groups are to be expected. To safeguard current professional standards in genetic counselling and testing, deployment of non-medical personnel might be essential.
Attitude of Health Personnel↗
Cost-effectiveness of stereotactic large-core needle biopsy for nonpalpable breast lesions compared to open-breast biopsy.
This paper demonstrates that the introduction of large-core needle biopsy (LCNB) replacing needle-localised breast biopsy (NLBB) for nonpalpable (screen-detected) breast lesions could result in substantial cost savings at the expense of a possible slight increase in breast cancer mortality. The cost-effectiveness of LCNB and NLBB was estimated using a microsimulation model. The sensitivity of LCNB (0.97) and resource use and costs of LCNB and NLBB were derived from a multicentre consecutive cohort study among 973 women who consented in getting LCNB and NLBB, if LCNB was negative. Sensitivity analyses were performed. Replacing NLBB with LCNB would result in approximately six more breast cancer deaths per year (in a target population of 2.1 million women), or in 1000 extra life-years lost from breast cancer (effect over 100 years). The total costs of management of breast cancer (3% discounted) are estimated at pound 4676 million with NLBB; introducing LCNB would save pound 13 million. The incremental cost-effectiveness ratio of continued NLBB vs LCNB would be pound 12 482 per additional life-year gained (3% discounted); incremental costs range from pound -21 687 (low threshold for breast biopsy) to pound 74 378 (high sensitivity of LCNB).
Aged↗
Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era?
AIMS: Genetic scientific knowledge is growing rapidly but how this affects clinical practice is unclear. We investigated the levels of knowledge, practical skills and clinical genetic practices of Dutch cardiologists. METHODS AND RESULTS: A survey was designed to assess cardiologists' experience with genetic aspects of hypertrophic cardiomyopathy, self-reported genetic knowledge, and genetic skills in general and aimed at this disease. In addition, cardiologists' opinions on five possible measures for improvement were obtained. STUDY POPULATION: all Dutch cardiologists (n=643). Median number of patients suffering from hypertrophic cardiomyopathy per cardiologist is five. Forty-one percent of respondents do not give information about genetics to all their patients. Cardiologists rarely initiate DNA tests for hypertrophic cardiomyopathy. Only 38% refer patients to clinical geneticists. Self-reported knowledge levels are low (average score 3.3-5.1, 0-10 scale). Cardiologists with an established working relationship with a clinical geneticist report significantly higher levels of knowledge. Clinical guidelines, education and improved collaboration with clinical geneticists are preferred. CONCLUSION: Dutch cardiologists' genetic knowledge and clinical genetic practice levels are insufficient. As a result, clinical genetic care for patients with hypertrophic cardiomyopathy is poor. Improvements proposed include advancement of knowledge (education, professional guidelines) and structural measures (working relationships, multidisciplinary outpatient clinics). Collaboration of cardiologists and clinical geneticists is urgently needed to optimise cardiogenetic patient care.
Adult↗
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
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Cation Transport Proteins↗
Maternal health, antenatal and at 8 weeks after delivery, in home versus in-hospital fetal monitoring in high-risk pregnancies.
OBJECTIVE: To assess maternal health outcome, comparing high-risk pregnant women to either domiciliary monitoring or in-hospital monitoring, and a low risk pregnant group. DESIGN: Paper and pencil questionnaire, distributed antenatal and 8 weeks after the delivery. SETTING: A university hospital. SUBJECTS: Three groups: 130 high-risk pregnant women, who entered a randomized clinical trial and were allocated to either home (n=69) or in-hospital monitoring (n=61), and a reference cohort of low risk pregnant women (n=55). MAIN OUTCOME MEASURES: Antenatal physical and mental health (RAND36) and social experiences; mode of delivery; complications postpartum; physical health, mental health, and social experiences at 8 weeks postpartum. RESULTS: In all groups, antenatal physical health was considerably lower compared to the physical health of US women aged 18--44 years. Antenatal mental health was lower in high-risk women than in low-risk women (P<0.05). Antenatal maternal health, the mode of delivery, and maternal complications postpartum did not differ significantly between in-hospital and domiciliary monitored women. Eight weeks after delivery, physical health improved considerably in all groups; mental health was significantly lower in high-risks as compared to low-risk women (P<0.01). The allocated monitoring strategy showed a significant effect on mental health at 8 weeks after delivery; the mental health score being lower in the domiciliary monitored group (P<0.05). CONCLUSIONS: At 8 weeks after the delivery, physical health improves substantially in all groups. Mental health is higher in low-risks than in high-risks. Within the high-risk group domiciliary and in-hospital monitored women have the same physical maternal outcome at 8 weeks after delivery. However, mental maternal health in in-hospital monitored women at 8 weeks was probably biased by a medicalization effect.
Adolescent↗
The discount rate in the economic evaluation of prevention: a thought experiment.
OBJECTIVES: In the standard economic model of evaluation, constant discount rates devalue the long term health benefits of prevention strongly. This study shows that it is unlikely that this reflects societal preference. DESIGN: A thought experiment in a cause elimination life table calculates savings of eliminating cardiovascular disease from the Dutch population. A cost effectiveness analysis calculates the acceptable costs of such an intervention at a threshold of 18 000 Euro per saved life year. METHODS: Cause specific mortality (all cardiovascular causes of death and all other causes) and health care costs (all costs of cardiovascular disease and all other causes of costs) by age and male sex of 1994. RESULTS: At a 0% discount rate, an intervention eliminating cardiovascular disease may cost 71 100 Euro. At the same threshold but at discount rates of 3% or 6%, the same intervention may cost 8100 Euro (8.8 times less) or 1100 Euro (65 times less). CONCLUSIONS: The standard economic model needs more realistic duration dependent models of time preference, which reflect societal preference.
Adult↗
Comparing treatment valuations between and within subjects in clinical trials: does it make a difference?
Valuations may be sensitive to biases, especially if elicited alongside randomized clinical trials. We investigated the construction of valuations assigned by women who entered a randomized clinical trial and were allocated to in-hospital or domiciliary monitoring. Women assigned valuations (0-10 visual analogue scale) to the strategy they had been allocated to and to the alternative strategy. Valuations were expressed as a between-subject difference (assigned by the women allocated to the respective strategies) and as within-subject differences (assigned by all women). Domiciliary monitoring was valued higher by the women allocated to that strategy (P = 0.10). In-hospital monitoring was valued higher by the women allocated to that strategy (P = 0.02). The average within-subject differences differed by allocated strategy (P<0.01). The within-subject valuation differences showed large variability between and within groups. An overrepresentation of women favoring domiciliary monitoring and asymmetric treatment experience inflated the average within-subject difference in the domiciliary group but deflated that difference in the in-hospital group. Neither the average between-subject difference nor the average within-subject differences are free of bias. Other study designs probably cannot prevent bias. Comparing within-subject and between-subject differences is instructive.
Adult↗
Advanced prostate cancer: course, care, and cost implications.
BACKGROUND: If prostate cancer screening proves to be effective, some cases will be prevented from reaching the advanced stage. In order to evaluate screening programs thoroughly, it is important to quantify course, care, and accompanying costs of advanced disease. METHODS: We studied 70 files of patients in two hospitals, who had received a diagnosis of distant metastases of prostate cancer and who had died in the years 1994-1998. The total healthcare received by these patients, including symptoms and complaints, was recorded. RESULTS: The most frequently reported symptoms were pain (42%), urogenital symptoms (25%), and malaise (20%). Eighty-nine percent of all patients were hormonally treated (either by orchidectomy and/or chemical castration), and 47% received one or more series of radiation therapy. Sixty-nine percent of all patients were treated with pain medication. The average duration of advanced disease in all patients was 24 months. Average costs of advanced disease were estimated at $11,182 over the total period: $1,547 (14%) was allocated to assessment and outpatient care, and $9,635 (86%) to treatment and costs of hospital stay. Almost half of the total costs were determined by hospital stay. CONCLUSIONS: These data give a better understanding of the course, care, and costs of advanced prostate cancer. These estimates, together with the effects of advanced prostate cancer on quality of life, will be used for the evaluation of prostate cancer screening.
Adult↗
Cost-minimization analysis of domiciliary antenatal fetal monitoring in high-risk pregnancies.
OBJECTIVE: To compare safety and cost-effectiveness of domiciliary antenatal fetal monitoring (cardiotocography and obstetric surveillance) with in-hospital monitoring in high-risk pregnancies. METHODS: From September 1992 to June 1994, 150 consecutive women with high-risk pregnancies, who would otherwise be monitored in the hospital, entered a randomized controlled trial of in-hospital (n = 74) or domiciliary (n = 76) monitoring. The main outcome measures were neonatal safety (Prechtl neurologic optimality score, the proportion of non-optimals) and cost-effectiveness. To test a two-point difference in mean Prechtl scores (two-tailed o = .05. 1-beta = .80), 150 women were needed. Safety and cost-effectiveness were analyzed according to intention to treat. Conditional on the safety outcomes, a cost-minimization analysis based on actual resource use was performed. Uncertainty of results was explored by sensitivity analyses. RESULTS: Neonatal outcomes were equal. No cost-shifting between the antenatal and postpartum period occurred. Substituting domiciliary for in-hospital monitoring reduced mean (standard deviation) antenatal costs from $3558 ($2841) to $1521 ($1459) per woman (P < .001). If costs were varied by the addition of 50%, costs were still reduced. The magnitude of the reduction was sensitive to the costs of hospital care and less sensitive to the costs of domiciliary monitoring. CONCLUSION: Domiciliary monitoring is safe and reduces costs by one-half. The technique seems transferable to other settings but local circumstances may sometimes hamper its dissemination.
Adult↗
High risk pregnancy monitored antenatally at home.
OBJECTIVE: Is domiciliary antenatal fetal surveillance for selected high risk pregnancies, a feasible alternative for hospital admission? DESIGN: A randomized controlled trial conducted at the Academical Medical Centre, Amsterdam, The Netherlands. SUBJECTS: Between September 1992 and June 1994, 76 women were at random allocated to domiciliary care and 74 women to hospital care. Criteria for inclusion were hypertension (26%), fetal growth retardation (24%), post term pregnancy (23%), diabetes (24%), preterm rupture of membranes (2%) and previous recurrent antenatal death (1%). MAIN OUTCOME MEASURES: Primary outcome measure was perinatal morbidity, measured by Prechtl's neonatal neurological optimality score. Secondary outcome variables were the occurrence of complications, obstetric interventions at labour, birthweight, gestational age at delivery and maternal and neonatal admission rates. RESULTS: In both groups there was one case of perinatal mortality. In both treatment groups the median of the neurological optimality score was found at 59. Also secondary outcome variables did not show significant differences. CONCLUSION: Domiciliary antenatal care for selected women with high risk pregnancy is feasible considering obstetric outcome.
Adult↗
Cost-effectiveness of HA-1A treatment for patients with sepsis.
The cost-effectiveness of prescribing HA-1A for sepsis patients was analyzed by comparing effectiveness and direct medical costs. Effectiveness was estimated on the basis of published data from a randomized clinical trial. Costs were determined by combining data from the same trial with expectations about hospital days. Average costs per life year gained were estimated at 25,000 Dutch guilders (1 Dutch guilder is approximately 53 US cents). Sensitivity analyses were applied and showed that the effectiveness and cost-effectiveness of treating patients with HA-1A depend a great deal on the expected duration of survival after successful treatment. If the objective is to maximize the cost-effectiveness of treatment, this means that the prognosis of the patient should be considered when deciding about the appropriateness of treatment with HA-1A. As one would expect, another way to increase cost-effectiveness would be to increase the proportion of gram-negative sepsis patients amongst those receiving treatment.
Antibodies, Monoclonal↗