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Biomedical subjects

B M Knoppers

Publications and source records attributed to B M Knoppers.

14 recordsLinked to original sources
PubMed1996

Genetic predisposition to cancer--issues to consider.

The importance of molecular genetic events in the development of inherited cancers has evolved from the clinical study, molecular and genetic epidemiology and molecular biology of affected families. As our understanding of the mechanisms of carcinogenesis improves, numerous concerns revolving around the potential impact of laboratory-based predictive genetic testing arise. Through mult-disciplinary approaches supported in part by the Human Genome Project and other research efforts, information is being gathered that may lay the foundation for legislative, scientific and clinical guidelines and recommendations throughout the international community.

Ethics, Medical↗
PubMed1994

Ethical issues involved in establishing a registry for familial Alzheimer's disease.

In January 1992, the IMAGE Project extended the establishment of its registry of familial Alzheimer cases to all areas of the province of Quebec, for collection of epidemiological and clinical data, as well as biological samples. The aim is to study genetic transmission patterns of Alzheimer's disease (AD) and to provide a sampling framework for further etiologic and risk factor studies. The IMAGE registry already includes data of a population-based study in the Saguenay-Lac-St-Jean area; the project to collect data on familial AD (FAD) cases across the province of Quebec is known as the ALGENE Initiative. The registry is thus a collection of "AD families" for both familial and sporadic cases. The establishment of the registry involves several steps in the field work: recruitment and selection of families; collection of information on family medical history; selection of informative families and genetic testing for AD/FAD by linkage analysis. As AD is not homogeneous in its etiology and since we do not know if, in the event that genetics is involved in AD whether or not penetrance of the gene(s) is high, we must be aware of the "genetic horizons" of AD in collecting and conserving data on families of cases, and in the genetic testing for AD/FAD by linkage analysis. Families who choose genetic testing must be aware of the implications of our undertaking, assured of the confidentiality of the test and, at the same time, they must understand its limitations. The experimental nature of our research project raises ethical dilemmas. This article examines these initial considerations of the field work involved in developing a registry pertaining to genetic testing for AD/FAD by linkage analysis and offers some preliminary observations on the experience of the first year of this project.

Aged↗
PubMed1993

Confidentiality in genetic testing: legal and ethical issues in an international context.

This comparative legal study on confidentiality in genetic testing examines three levels of communication of genetic information: the personal; the familial; and the institutional third parties. At the first two levels, it is argued that the approach is one that recognizes genetic individuality and reciprocity within the physician-patient relationship without legislative interference. This stands in contrast to the possible use of genetic information by economic third parties or, even, that of the state with respect to the DNA profiling of the genetic identity of criminals, the approach for both areas being the promulgation of 'genetic-specific' or human rights legislation with the hope of preventing discrimination. This rush to constrain the impact of genetic information through legislation is criticized since it may well lead to further stigmatization. The author proposes the promotion of the concept of genetic privacy within the broader rubric of informational self-determination.

Confidentiality↗
PubMed1993

Ethical and legal concerns: reproductive technologies 1990-1993.

After the rapid increase in reports, bills, and regulations on assisted reproductive technologies (ART) in the 1980s, the first 3 years of the 1990s reveal a continuation of this trend notably in three major aspects. First, a certain consistency has developed in terms of the conditions of accessibility to ART, the definition of infertility, the terms of donation, and the primacy of social filiation, so that anonymity remains controversial. Second, the importance of protection of genetic material has been reaffirmed with regard to gamete and embryo conservation, embryo research, and, in particular, the acceptability of preimplantation diagnosis. Finally, the framework of practices concerning accreditation and control, organization of national data, and management of nominative information has been increasingly refined.

Accreditation↗
PubMed1991

Recent advances in medically assisted conception: legal, ethical and social issues.

A review of reports, bills and legislation from around the world, during the period from 1987 to 1991, reveals certain areas of consensus on the possible or actual, ethical and legal regulation of medically assisted conception. Other areas remain controversial, due not only to cultural and religious differences but also to the social significance of the very implementation of these new technologies. Irrespective of these differences, the reformulation of certain shared international principles of human rights permits a greater specificity both in their translation and in their application to medically assisted conception. Areas discussed include the dignity of the person, the security of human genetic material, the quality of services, the inviolability of the person and the inalienability of the person.

Beginning of Human Life↗
PubMed1989

DNA sampling and informed consent.

Standard consent forms for blood and tissue sampling are inadequate for DNA sampling. However, creating new and separate forms for each type of activity associated with DNA analysis (banking, linkage analysis and genetic diagnosis) tends to dissociate the participant from what is essentially a medical continuum. Furthermore, DNA sampling involves the sharing of samples and data among centres. To ensure patient control throughout this multifaceted process, we have developed an integrated approach to obtaining consent for DNA sampling at each level of participation. Movement from one level to another is reflected in the choices offered to participants. This inclusive approach is based on the underlying principle of informed consent, namely the respect for individuality, confidentiality and freedom of choice. This approach should help practitioners of medical genetics recognize the medical context of DNA sampling.

Canada↗