Suchergebnisse

ZusammenfassungIn dieser Arbeit werden die Indikationskriterien zu humangenetischen Leistungen aus evidenzbasierter fachlicher Sicht dargestellt und die Pflicht zur Kostenübernahme oder die Berechtigung zu deren Ablehnung auf der Basis der gesetzlichen Grundlagen und der Rechtsprechung beleuchtet. Sie soll als eine Handlungsempfehlung sowohl für die indikationsstellende als auch für die gutachtlich tätige ärztliche Person dienen und als ein Appell an den Gesetzgeber, die Ungleichbehandlungen bezüglich humangenetischer Leistungen zu beseitigen.

While only the speciality of clinical genetics has developed the skills and attitudes to comprehensively fulfil the requirements of a genetic service system, it is only one of several disciplines involved in genetic service provision. The future of clinical genetics will depend on its ability to maintain educative competence regarding genetics in medicine whilst becoming a partner in a multidisciplinary service team. Furthermore, the expertise of clinical geneticists will play an important role in the regulation of the genetic test market.

A NIH Consensus Development Statement recommends implementation of a cystic fibrosis carrier screening in the general pregnant and pre-pregnant population. This suggestion is discussed in the light of missing or insufficient data about the reasons for high uptake rates in pilot projects, psychological and social risks, and optimal educational and counselling settings. It is concluded that the recommendation is not defendable and, at best, premature.

In recent years scientific progress has dramatically raised the potential of genetic services, but the actual benefits of these developments are not universally shared. In countries of low and middle incomes, improvements in genetic services frequently lag behind. Since this is generally caused by lack of resources and not by the lack of political will, the question arises, how can one most easily acquire the necessary capital to improve the health care in these areas. Public–private partnerships (PPPs) offer one approach to solve this issue, aiming at the inclusion of private enterprises in the realisation of public authority services. So far PPPs have been used exclusively in other health service areas. In this paper a first attempt is being made to discuss the feasibility of transferring the concept of PPP to genetic services, and consideration is given as to where the most promising starting point might be. We start by defining a multilevel structure that needs to be considered in providing comprehensive genetic care. We continue by explaining the concept of PPPs and their current types of implementation in medical services. We then examine how the PPP model could be applied to genetic services or sections thereof. We arrive at the conclusion that a likely starting point for PPP in genetic services is at the level of the infrastructure building service.

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.

<i>Objective:</i> Evaluation of the costs of a population-based genetic hemochromatosis (HH) screening. <i>Methods:</i> We performed a decision tree analysis and subsequently quantified the screening and treatment costs and the effect on life expectancies. Assumptions were based on literature data and expert opinions. <i>Results:</i> Under the very conservative assumptions of a 10% penetrance, a carrier frequency of 10%, a mean age of onset of complications of 54 years, and a 90% compliance with treatment (phlebotomy), we calculated the cost to be 7.26 EUR per tested person versus 1.62 EUR per nontested person (1 EUR ≈ 1 USD). The life expectancies for a 25-year-old male are 48.99843 years (if not tested) versus 48.99970 years (if tested). Although increased life expectancy for the entire population as a result of screening is negligible, for the 1 in 4,000 men who could benefit from it, an average of 2,000 extra days will be gained. By dividing the difference of cost by the difference of life expectancy, we calculated the cost for one life year gained to be 4,441 EUR. Under less stringent conditions (higher penetrance, higher carrier frequency) the costs decrease substantially. <i>Conclusion:</i> Costs of population-based genetic HH screening are very acceptable compared to the costs of other health care measures. We conclude that genetic HH screening is feasible under economic aspects of health care.

Zur Beurteilung der Entwicklung der Luftqualität in Deutschland stehen Daten aus räumlich und zeitlich inhomogenen Messnetzen der 16 Bundesländer und des Umweltbundsamtes zur Verfügung. Damit ist es problematisch, sichere Trendaussagen zur kurz- und langfristigen Entwicklung der Luftqualität zu treffen, die als repräsentativ für Deutschland angesehen werden können. Im Rahmen des Projektes wurde eine Methodik entwickelt werden, mit der sichere Aussagen zu den mittleren Trends (verkehrsnah, städtischer Hintergrund, ländlicher Hintergrund, industrienah) für die Luftschadstoffe Ozon, Stickstoffdioxid und Feinstaub getroffen und objektiv beurteilt werden können.

AbstractCommentary on Cherkas et al. (2004). Genetic Influences on Female Infidelity and Number of Sexual Partners in Humans: A Linkage and Association Study on the Role of the Vasopressin Receptor Gene (AVPR1A). Twin Research, 7, 649–658.

Ziele des Vorhabens war es, geeignete Datenquellen zu identifizieren und die Voraussetzungen für eine automatisierbare Erweiterung der Datenbank "Biozide in der Umwelt" zu schaffen, damit Biozidmonitoringdaten aus dem deutschsprachigen Raum in Zukunft regelmäßig aus verschiedenen externen Datenquellen in die Datenbank "Biozide in der Umwelt" integriert werden können. Im Einzelnen umfasste das Projekt: die Recherche und Identifikation geeigneter Datenquellen, welche Umweltmonitoringdaten von bioziden Wirkstoffen und ausgewählten Transformationsprodukten aus dem deutschsprachigen Raum enthalten, frei zugänglich sind und regelmäßig aktualisiert werden, die Erstellung einer Hilfsdatenbank zur Haltung der identifizierten Umweltmonitoringdaten von bioziden Wirkstoffen bzw. die Erstellung einer aktuellen Datensammlung aus den identifizierten Datenquellen in Form einer csv- oder Exceldatei, die Bereitstellung und Anwendung von Tools (Skripte bzw. Hilfsmittel) zur Automatisierung der Aufbereitung von Monitoringdaten und ihrer Integration in die Hilfsdatenbank. Dies umfasst Tools zum Datenmapping, zur Datenmigration und zum Dublettencheck. Nach Prüfung der Eignung wurden insgesamt acht Datenquellen identifiziert, die Biozidmonitoringdaten aus dem deutschsprachigen Raum für 125 biozide Substanzen und Transformationsprodukte lieferten. Die Anzahl der insgesamt identifizierten Messwerte beträgt 791.281. 95,5 % der identifizierten Messdaten wurden in Deutschland erhoben, etwa 1,0 % in Österreich und 3,5 % in der Schweiz. Darunter befanden sich auch potenzielle Dubletten, die identifiziert und gekennzeichnet wurden. Im Ergebnis des Projektes wurden neben den Rohdaten aus den acht identifizierten Datenquellen und den in Form einer Hilfsdatenbank standardisierten Daten auch Datenexport-Anleitungen, Nutzugsbedingungen, eine CAS-Mapping Tabelle und R-Skripte zur Datenfilterung und -standardisierung für eine zukünftige automatisierbare Erweiterung der Datenbank "Biozide in der Umwelt" (BiU) geliefert.

<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.

In spite of being very commonly used, the term genetic testing is debatable and used with several meanings. The diversity of existing definitions is confusing for scientists, clinicians and other professionals, health authorities, legislators and regulating agencies and the civil society in general, particularly when genetic testing is the object of guidelines or legal documents. This work compares definitions of genetic testing found in recommendations, guidelines and reports from international institutions, policy makers and professional organizations, but also in documents from other stakeholders in the field, as the pharmaceutical industry, insurers, ethics bodies, patient organizations or human-rights associations. A systematic review of these documents confirmed the extreme variability existing in the concepts and the ambiguous or equivocal use of the term. Some definitions (narrower) focus on methodologies or the material analysed, while others (broader) are information- or context-based. Its scope may range from being synonymous of just DNA analysis, to any test that yields genetic data. Genetic testing and genetic information, which may be derived from a range of medical exams or even family history, are often used interchangeably. Genetic testing and genetic screening are sometimes confused. Human molecular genetics (a discipline) is not always distinguished from molecular biology (a tool). Professional background, geographical context and purpose of the organizations may influence scope and usage. A common consensus definition does not exist. Nevertheless, a clear set of precise definitions may help creating a common language among geneticists and other health professionals. Moreover, a clear context-dependent, operative definition should always be given.

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.

Genetic testing is a term used in different settings, often with very different meanings. There are only very few studies published about the various possible definitions of "genetic testing", and evidence is lacking from its use in professional practise. The need for precise definitions is particularly felt when producing legislation, policy recommendations or professional guidelines. EuroGentest Unit 3 (Clinical, Community and Public Health Genetics) had, as one of its objectives, to analyse definitions of "genetic testing" and propose consensus working definitions, if possible. To assess what was meant when using this term, in each individual professional context, a questionnaire was developed to evaluate if a consensus definition was desirable and achievable and what items or information should be included in the scope of such a definition. The questionnaire was sent to all EuroGentest partners and other registered users of its website; 135 answers were received, a response rate of 22%. The need for a consensus definition was acknowledged by the vast majority, although there was much less concordance about the possibility of attaining one. Clinical geneticists were the most supportive for context-dependent definitions. Conflicting perspectives arose, however, when discussing the inclusion of some type of tests, material or technology used. At issue seemed to be the distinction between the concepts of genetic material-based testing and genetic information.