Die Geburt eines behinderten Kindes: Belastung und Bewältigung aus der Sicht betroffener Mütter und ihrer Familien
In: Enke-Copythek
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In: Enke-Copythek
In: Biopolitik, S. 201-233
In: Schriftenreihe des Bundesministers für Jugend, Familie, Frauen und Gesundheit 250
In: Public Health Genomics, Band 6, Heft 4, S. 249-258
ISSN: 1662-8063
<i>Background:</i> In order to promote safe and effective testing for BRCA1 and BRCA2 mutations in clinical practice, a network of expert centres in hereditary breast and ovarian cancer ('Verbundprojekt familiärer Brust- und Eierstockkrebs'; German Consortium on Hereditary Breast and Ovarian Cancer) has been established by the Deutsche Krebshilfe (German Cancer Aid). To improve practice, evaluations based upon the views of patients who have undergone testing concerning the impact of the genetic diagnosis and the quality of the services they receive and require are undertaken. <i>Methods:</i> Herein, we first describe the protocols for interdisciplinary pre- and post-test counselling and for molecular diagnostics, then the feedback from the patients undergoing testing. Women and men who had obtained their test results at least 6 months earlier were interviewed using a questionnaire including open and standardised questions at 11 participating centres in 2002–2003. Reported here are the survey protocol and preliminary data from interviews with women conducted by the centre based at the University of Münster's Medical School in 2002 (n = 46). <i>Results:</i> Compared to international guidelines, the Consortium's protocols provide more specifically outlined indications based on the mutation frequencies observed in the German population for families that should be offered interdisciplinary counselling and genetic testing. The data from the Münster survey suggest that there is little regret regarding the decision to undergo testing and that the vast majority of women would undergo the test again. However, women with positive findings experienced more problems than women with negative results. They were less prone to recommend the test and to communicate the tests results in their family compared to women with negative test results. Communication of test results within the family was characterised by preferential information of female family members. <i>Conclusion:</i> BRCA1/2 testing should be provided within a framework that ensures harmonisation and standardisation of services and that protects users. Women and men with positive test results may need special support from counsellors on how to handle test results in their families. Strategies need to be developed and evaluated on how to help stimulate and facilitate the dissemination of information within families without potentially 'overstraining' the 'messenger patient', at least when a mutation has been identified.
In: Public Health Genomics, Band 9, Heft 4, S. 235-239
ISSN: 1662-8063
We have assessed the relative amount of genetics education at each of the 3 levels of medical training in Germany, namely the undergraduate, postgraduate and continuous medical education stages. Our data show that genetics is ill represented at all levels. Written examinations at the end of the relevant section at the undergraduate level include very few questions related to medical genetics, and particularly few in subjects such as pathology, internal medicine and gynaecology and obstetrics. At the postgraduate level, only 4 specialties require knowledge in medical genetics that may be subject to examination. At the continuous medical education level, medical genetics plays a very minor role. All 3 levels have been subject to reform in recent years, but effects that might ensue from these reforms cannot be expected before 2008.
In: Public Health Genomics, Band 5, Heft 4, S. 209-216
ISSN: 1662-8063
<i>Objectives:</i> 40 years ago, the sudden increase of births of babies with a range of severe deformities shocked the world. It was caused by the tranquilizer thalidomide. Women who took the drug in the first trimester of pregnancy gave birth to children with a wide but distinctive range of malformations. Thalidomide claimed more than 10,000 victims worldwide. Those who survived are now reaching middle age. Especially women affected by thalidomide may be at special disadvantage because of combined discrimination based on gender and disability. So far, no study has been published that has investigated their quality of life in health and in health care. <i>Methods:</i> A questionnaire using the WHO QOL-BREF instrument for measuring health-related quality of life was distributed among 166 females impaired by thalidomide. A randomized control group matched by age, sex and area of residence filled out a corresponding questionnaire. <i>Results:</i> Women impaired by thalidomide reported significantly lower quality of life in health and health care as compared to their control group. Over a third reported steadily deteriorating conditions, and a statistically significant higher proportion as compared to the controls has already retired from the workforce. They were significantly less frequently married, had fewer children, had less household incomes and were less mobile. However, women impaired by thalidomide are more likely to be satisfied with their safety in daily life, with their physical environment, with their living conditions and with the support they get from their friends. <i>Conclusions:</i> Although there is increasing clinical research on how to use thalidomide as a drug in new therapies, the specific health needs of women impaired by thalidomide are at risk of being neglected.
In: Kultur und Gesellschaft: gemeinsamer Kongreß der Deutschen, der Österreichischen und der Schweizerischen Gesellschaft für Soziologie, Zürich 1988 ; Beiträge der Forschungskomitees, Sektionen und Ad-hoc-Gruppen, S. 258-259
In: Public Health Genomics, Band 11, Heft 2, S. 75-120
ISSN: 1662-8063
<i>Objectives:</i> Regarding the recent attention to develop policies regarding the provision of clinical genetic testing services, access to, acceptance, utilisation and regulation of genetic services was investigated in selected European countries as well as one non-European country. <i>Methods:</i> Data were collected on the basis of relevant international reports and sources accessible via the internet, from self- designed, internationally administered surveys and with the help of a panel of experts from European countries participating in several workshops as well as from National European Societies of Human Genetics. <i>Results:</i> A selection of divergent health care systems was reviewed and compared (e.g. Finland, Germany, Portugal, Sweden, UK, France, Italy, Spain, Czech Republic, Lithuania and Serbia/Montenegro). For the evaluation of clinical validity and utility of genetic testing, background information was provided focussing on DNA-based testing for heritable disorders with a strong genetic component (usually due to the action of a single gene). <i>Conclusions: </i>There is great heterogeneity in genetic testing services among the countries surveyed. It is premature to mandate that genetic testing provided by clinical services meets professional standards regarding clinical validity and utility, because there is to date no consensus within the scientific community and among health care providers to what extent clinical validity and utility can and need to be assessed. Points to consider in the process of developing such standards are proposed.
The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic testing, to scrutinise the definitions of genetic testing therewith contained the following: 60 legal documents were identified and examined—55 national and five international ones. Documents were analysed for the type (context) of testing and the material tested and compared by legal fields (privacy and confidentiality, data protection, biobanks, insurance and labour law, forensic medicine); some instruments are very complex and deal with various legal fields at the same time. There was no standard for the definitions used, and different approaches were identified (from wide general, to some very specific and technically based). Often, legal documents did not contain any definitions, and many did not distinguish between genetic testing and genetic information. Genetic testing was more often defined in non-binding legal documents than in binding ones. Definitions are core elements of legal documents, and their accuracy and harmonisation (particularly within a particular legal field) is critical, not to compromise their enforcement. We believe to have gathered now the evidence for adopting the much needed differentiation between (a) "clinical genetics testing", (b) "genetics laboratory-based genetic testing" and (c) "genetic information", as proposed before.
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