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P Bourret

Publications and source records attributed to P Bourret.

12 recordsLinked to original sources

Cancer genetics service provision: a comparison of seven European centres.

OBJECTIVE: To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally. METHODS: A detailed survey questionnaire was adapted collaboratively to obtain the required information. Initial survey data were collected within each centre and interim results were discussed at two European Workshops. Where differences in practice existed, details were clarified to ensure accuracy and adequacy of information. Participating centres were Haifa (Israel), Hannover (Germany), Leiden (The Netherlands), Leuven (Belgium), Manchester (UK), Marseille (France) and Milan (Italy), representing countries with populations ranging from 6.5 to 80 million. RESULTS: The European countries diverged in regard to the number of cancer genetics centres nationally (from 8 in Belgium to 37 in France), and the average population served by each centre (from 0.59 million in Israel to 3.32 million in Italy). All centres offered free care at the point of access, but referral to specialist care varied according to national health care provision. At a centre level, staff roles varied due to differences in training and health care provision. The annual number of counsellees seen in each participating centre ranged from 200 to over 1,700. Access to breast surveillance or bowel screening varied between countries, again reflecting differences in medical care pathways. These countries converged in regard to the wide availability of professional bodies and published guidelines promoting aspects of service provision. Similarities between centres included provision of a multidisciplinary team, with access to psychological support, albeit with varying degrees of integration. All services were dominated (70-90%) by referrals from families with an increased risk of breast cancer despite wide variation in referral patterns. Collection of pedigree data and risk assessment strategies were broadly similar, and centres used comparable genetic testing protocols. Average consultation times ranged between 45 and 90 min. All centres had access to a laboratory offering DNA testing for breast and bowel cancer-predisposing genes, although testing rates varied, reflecting the stage of service development and the type of population. Israel offered the highest number of genetic tests for breast cancer susceptibility because of the existence of specific founder mutations, in part explaining why the cancer genetics service in Haifa differed most from the other six. CONCLUSION: Despite considerable differences in service organisation, there were broad similarities in the provision of cancer genetic services in the centres surveyed.

Breast Neoplasms↗

[Oncogenetics: a new activity between research and medicine].

The on-going development of predictive tests for common cancers--as breast and colorectal cancers--is potentially introducing fundamental changes in medical practices, and, therefore, changes in the role and meaning of medicine in society. In this context, analysing the conditions of emergence and development of cancergenetics activities, and their potential implications, appears as an issue of particular interest for sociology. The study conducted at Inserm unit 379 in Marseille, in collaboration with physicians from institut Paoli-Calmettes, led us, firstly, to identify a set of factors as decisive for the future of these activities. In addition, this analysis highlights the diversity of the conditions of introduction of genetic tests, depending on the pathologies and the context of existing clinical practices. Considering these elements, we argue for the setting of adequate modalities of regulation so as to permit a managed and responsible introduction of genetic testing in medicine and society.

Adenomatous Polyposis Coli↗

[Medical chemoprevention of cancers. From the point of view of social sciences].

The orientation of the medical activity toward preventive strategies knows currently an important development. This movement shows various logic, which are: on one hand a rational step, a strategic choice in favour of prevention, and on the other hand a choice by elimination, when the other forms of intervention establish insufficient efficiency. Prevention had to follow the path of validity to acquire pertinence. The gold-standard is randomised blinded trials and it is this kind of procedure that has been proposed in the BCPT (Breast cancer prevention trial). By comparison with a classic therapeutic trial the main differences of prevention trial lay in: criteria of inclusion, analyses of impact larger than the simple efficiency (quality of life), on the focus on the risk (especially genetic) and the legal context. One of the main points is the question of risks induced by an intervention on healthy persons. In this context, even the passage of an uncertainty to a "certainty" concerning induced risks can not always suffice to close the controversy. Physicians cannot in this case, refer to norms and to models since this type of intervention is new.

Antineoplastic Agents↗

A likelihood approach to HLA serology.

A likelihood approach to HLA serology has been developed in which the aim is not to define a recognition set for a serum but to describe the serum's ability to react with each and every antigen in the test cells, this ability being quantified in terms of the probability of a positive reaction. For a given set of probabilities, one for each antigen, it is possible to derive the probability of the observed set of reactions (the likelihood of the set of probabilities). The maximum possible value of the likelihood for any possible combination of the probability set can then be sought, but this requires a maximization of likelihood with respect to 60-100 independent parameters. Theoretical considerations of the shape of the likelihood surface prove that, in this particular case, this is a feasible proposition. This approach allows the recognition of three groups of antigens: those for which there is considerable evidence of a specificity, those for which there is either no specificity or a very weak specificity, and those for which there is insufficient evidence on which to base a conclusion. The existence of a specificity can be tested using a log likelihood ratio as a statistic, but the usual assumption of a chi 2 distribution of this statistic cannot automatically be made in this situation. Therefore, the distribution is estimated by simulation. A serologist using this approach would receive considerably more information as to the serum's reaction patterns and valid statistics for the existence, or not, of a specificity.

HLA Antigens↗

[Determination of Ag ions in water, urine and blood].

Developments in polarography techniques over the last thirty years have enabled us to register outstanding increases in sensitivity: the order of concentration studies has evolved from 10(-3) g ions/1 to 10(-10) g ions/1. Pulse polarography with anodic stripping voltammetry is therefore particulary suitable for the determination of numerous metals which are to be found in extremely low concentration in biological samples which may be of limited volume e.g. blood. Our objects has been to describe and to apply in the case of silver a determination technique which would be sufficently sensitive, precise, practical and rapid for it to be easily used by biologists and toxicologists. A fortiori, this method may be applied in hydrology to the determination of these metals in water.

Humans↗

Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network.

Due to the technical difficulties involved in identifying BRCA1/2 genetic mutations, the affected patients have to be investigated before testing can be made available to all the relatives at risk. Here, we studied the attendance rates at cancer genetic clinics (CGC) and the uptake of genetic testing in first/second degree relatives after the first BRCA1 mutated woman with cancer had been informed in the family. We carried out a survey on French cancer geneticists involved in breast/ovarian CGC, asking them to select their first three BRCA1 family records. Data collection was carried out retrospectively by telephone interview with a standardised closed item questionnaire. Considering only those families (n = 37) where the index case had been informed for at least 8 months at the time of the survey, the overall attendance at CGC of first/second degree relatives (n = 419) was 31.7% (n = 133) and the overall uptake of BRCA1 testing was 26.7% (n = 112). Among those who attended the CGC (n = 133), 84.2% (n = 112) requested genetic testing (95% confidence interval: 78-90.4%). Among the first degree relatives, the unaffected women who attended accounted for 59.8% and 51.2% requested testing after the index case had been informed. Women with cancer had a higher attendance rate (83.3%) than unaffected women (36.1%) (Odds Ratio (OR) = 8.86; p < 0.001) and first degree relatives (51.4%) than second degree relatives (17.9%) (OR = 2.87; p < 0.001); women (43%) also attended more frequently than men (16%) (OR = 3.97, p < 0.001). In French BRCA1 mutated families, female first degree relatives of the index patient show the most interest in genetic testing.

Adult↗