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Beyond consent: ethical and social issues in genetic testing

Abstract

Informed consent is a vital ethical doctrine in clinical medicine and, through genetic counselling, is being applied to genetic testing. But genetic testing raises issues that transcend the traditional concept of informed consent. Genetic tests are adopted without demonstrable clinical benefit, and the consequences of testing can reach beyond the individual to their families and communities. Understanding the social and cultural context of genetic testing will lead to more informed discussion and debate on these issues.

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Acknowledgements

Bryn William Jones has assisted with the editing and referencing of this article. M.M.B.'s work is part of the Ethics and Genetics Research Group at UBC, with projects supported by the Medical Research Council of Canada, the Social Sciences and Humanities Research Council of Canada, the Law Commission of Canada, the Canadian Breast Cancer Foundation, the Huntington Society of Canada, the Lohn Foundation and the Peter Wall Institute for Advanced Studies.

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DATABASE LINKS

Huntington disease

breast cancer

Tay–Sachs disease

sickle cell anaemia

FURTHER INFORMATION

Genetics and ethics literature

Glossary

AUTONOMY

The capacity to be rational and self-directing. Autonomy creates the possibility of moral responsibility, and is therefore accorded strong ethical protection in bioethics.

COMMUNITY

Communities usually share some element of value or practice that provides cohesiveness despite considerable heterogeneity. Aggregates might be identified as having a common feature, such as a disease, but lack any social cohesiveness. Disease-related groups might move from being an aggregate to a community as they organize activities around their common features.

CULTURE

Culture is constituted by the practices and assumptions that underlie a group's everyday activities, and is typically heterogeneous and constantly evolving.

INFORMED CONSENT

A doctrine intended to assure patient participation in health-care decisions. It requires that the recommended and alternative interventions be explained, together with their harms and benefits. Authorization of treatment is based on comprehension of this information and voluntary agreement.

STANDARD OF PRACTICE

Historically rooted in clinical practice, the standard of practice is the service or intervention that is recognized by the relevant group of health professionals as appropriate care. The move to evidence-based standards of practice evaluates whether the benefits of a new intervention outweigh the possible harms.

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Burgess, M. Beyond consent: ethical and social issues in genetic testing. Nat Rev Genet 2, 147–151 (2001). https://doi.org/10.1038/35052579

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