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"Lynch syndrome (LS) is one of the most common inherited cancer predisposition syndromes and the most important cause of hereditary colorectal and endometrial cancers. It is inherited in an autosomal dominant pattern, caused by a pathogenic germline variant in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2), which encode proteins responsible for maintaining genome stability. A defective MMR system confers an elevated risk of developing certain types of cancer, at a younger age than in the general population and at a high rate of multiple primary neoplasia. Lynch syndrome is not just one disease, but a collection of different subtypes of underlying molecular aspects with specific clinical implications. A better understanding of these subgroup profiles could offer better care for each patient, leading to more personalized risk-reduction and surveillance strategies. Lynch syndrome is a frequent but yet underdiagnosed condition that needs multidisciplinary increased awareness for correct diagnosis and management. The aim of this review is to provide a summary of available literature data on the genetic aspects of Lynch syndrome together with geno-type-phenotype correlations and its clinical implications in the detection, genetic counseling, genetic testing, risk stratification, and management of this condition."

Genetic factors play a major role in the etiology of nearly one-half of all cases of profound prelingual deafness, with more than 100 distinct genetic forms of hearing loss now recognized. It is important for the deaf community and professionals working with the deaf to be aware of basic genetic concepts and the numerous steps involved in the genetic diagnostic and counseling process. An understanding of the genetic concepts applicable to individual cases, as well as an appreciation of the complex nature of determination of recurrence risks in families, will facilitate the referral of individuals and families for genetic evaluation and counseling.

It is estimated that egg and sperm donations account for more than 60,000 births every year in the United States. However, surprisingly, and despite common misconceptions, there are no federal requirements and barely any state requirements to screen and test sperm and egg donors for genetic diseases. The only nationwide standards for genetic screening and testing of donated reproductive tissue are guidelines created by professional organizations, but compliance with those guidelines is voluntary so they cannot be enforced effectively. Furthermore, the few reported cases involving children born from genetically-compromised reproductive tissue illustrate the court system's failure to afford such children and their families the relief they need and deserve. With a continuing rise in the number of babies born each year who are conceived with donated reproductive tissue, it is necessary to create a regulatory framework requiring the screening and testing of reproductive tissue donors for genetic diseases. This article makes the case for federal regulation of the genetic aspects of donated reproductive tissue under the authority granted to the FDA by the Public Health Service Act.

Starting with some basic distinctions, i.e. the distinction between an ethics of human self-fulfilment ,of individual and social values and of virtues on one hand, and an ethics of individual rights, of obligation and of social justice on the other, this paper explores the manifold scenario of the problems of prenatal diagnosis with respect to these different aspects of ethical analysis. This is followed by a normative evaluation of the status of the human embryo, and by an elaboration of different adressees of responsibility in the field of biomedicine and, especially, of prenatal genetic diagnosis. The author comes to the conclusion that a narrow-minded vision of person and personhood ignores the necessary connection of biological identity and biographical continuity as well as the necessity of social recognition as one of the moral roots of personhood. Thus, the author argues that, for ethical reasons, in general the protection of embryo and of fetus must be demanded. However, in situations of conflict (and prenatal diagnosis can certainly be regarded as such) the search of a balance between well-being and rights is an adequate response to the situation. With respect to this conflict of rights, the author explores the different adressees and the different levels of responsibility and shows that the responsibility of a pregnant women or of a couple must be supported by medical and political measures. These measures primarily concern access to adequate medical and psychological counselling as well as financial and social support for families, especially those who live with handicapped children.

Starting with some basic distinctions, i.e. the distinction between an ethics of human self-fulfilment ,of individual and social values and of virtues on one hand, and an ethics of individual rights, of obligation and of social justice on the other, this paper explores the manifold scenario of the problems of prenatal diagnosis with respect to these different aspects of ethical analysis. This is followed by a normative evaluation of the status of the human embryo, and by an elaboration of different adressees of responsibility in the field of biomedicine and, especially, of prenatal genetic diagnosis. The author comes to the conclusion that a narrow-minded vision of person and personhood ignores the necessary connection of biological identity and biographical continuity as well as the necessity of social recognition as one of the moral roots of personhood. Thus, the author argues that, for ethical reasons, in general the protection of embryo and of fetus must be demanded. However, in situations of conflict (and prenatal diagnosis can certainly be regarded as such) the search of a balance between well-being and rights is an adequate response to the situation. With respect to this conflict of rights, the author explores the different adressees and the different levels of responsibility and shows that the responsibility of a pregnant women or of a couple must be supported by medical and political measures. These measures primarily concern access to adequate medical and psychological counselling as well as financial and social support for families, especially those who live with handicapped children.

AbstractSince the early days of the Human Genome Project, there has been increasing social scientific research that promises to elucidate the social implications, aspects or dimensions of research on human, animal and plant genetics. This paper discusses the literature on the social aspects of different types of genetic testing technologies and their applications in the contexts of clinical medicine, biomedical research, personal and family genealogy, and criminal justice. Although there are many differences in the practices, purposes and organization of these technologies across such contexts, this paper shows that social scientists' understandings of their social aspects centers on individual and collective experiences of how genetic testing technologies operate in practice.

Psychologische Aspekte der genetischen Beratung werden erörtert. Einleitend wird darauf hingewiesen, dass genetische Beratung ein Kommunikationsprozess zwischen Berater und Klient bzw. Patient ist, in dem Probleme behandelt werden, die mit dem Auftreten oder der Befürchtung einer angeborenen und/oder genetisch bedingten Erkrankung oder Behinderung zusammenhängen. Dieser Prozess beinhaltet das Bemühen einer oder mehrerer entsprechend qualifizierter Personen, einem einzelnen oder einer Familie zum Verständnis medizinisch-genetischer Fakten zu verhelfen, Entscheidungsalternativen zu bedenken und individuell angemessene Verhaltensweisen zu wählen. Genetische Beratung erfolgt auf der Grundlage umfassender Anamneseerhebung und Befundbewertung, die deshalb als untrennbarer Bestandteil genetischer Beratung angesehen werden. Ein erstes Beratungsgespräch dauert in der Regel etwa eine Stunde, bei Bedarf werden wiederholt Gespräche angeboten. Bestandteil der genetischen Beratung ist in jedem Fall eine schriftliche Zusammenfassung für die Klienten bzw. Patienten, in der alle für die jeweilige Situation wichtigen Informationen allgemein verständnlich zusammengefasst sind. - Dem Beitrag folgen kritische Anmerkungen von R. Kollek zu Wolffs am klientenzentrierten Konzept orientierten Beratungsmodell.