Society and ethics – the genetics of disease

Abstract

Established guidance for the protection of human subjects in research has provided the framework for research and clinical practice in genetics. Three key principles to emerge are the requirements for consent, privacy and confidentiality. However, recent research on genetic susceptibility to common diseases indicates that it may be more difficult to decide if and when genetic testing will be appropriate. Risks of disease may be low and interventions may not be available. Today, debate is primarily focussed on ethical issues raised by the use and storage of genetic information. One of the earliest experiences of genetic testing for some people is likely to be in the area of pharmacogenetics. Debate about ethical issues has been focused on the implications of patient stratification, particularly with regard to the availability of medicines for small groups and the significance of racial variation in response to medicines. The possible use of personal genetic information by insurance companies and employers has also been an issue that legislators have taken seriously.

Introduction

Public debate about the ethics of developments in human genetics research has a complex history. Prior to the advent of the Human Genome Project, knowledge and understanding of human genetics attracted relatively little interest from members of the public or the media. Diseases that were known to have a genetic basis were rare, and most people were unfamiliar with the principles of heredity. However, during the first half of the twentieth century, eugenics had been a feature of several government policies that were widely debated at the time [1^••]. One legacy of eugenics was the establishment of an international framework of ethical guidance to protect human subjects participating in research. The most important of these is the Declaration of Helsinki (1964), which established a set of basic principles on which much other guidance is based 2.••, 3.••, 4.•, 5.••, 6., 7.••. The current revision of the Declaration (2000) [2^••] recognises that the purpose of biomedical research involving human participants must be to “improve diagnostic, therapeutic and prophylactic procedures and the understanding of the aetiology and pathogenesis of disease”. These documents 2.••, 3.••, 4.•, 5.••, 6., 7.•• and others like them, together form the ethical framework for research and practice in clinical genetics.

Over the past 15 years, advances in molecular biology and the establishment of the Human Genome Project in the late 1980s have led to the identification of hundreds of genes, the deletion or mutation of which cause diseases that in most cases are rare. As a result, much greater attention began to be paid to ethical, social and legal issues associated with these advances [8^•]. In particular, the prospect of pre-implantation genetic diagnosis, the increasing use of selective termination following pre-natal diagnosis, and the use of predictive testing for late-onset diseases have been widely debated. Research to develop cell-based therapies that use fetal or embryonic cells has proved especially controversial. In this review, I outline the main principles that have been used to guide the formulation of codes of practice and regulation to address ethical issues raised by genetic testing. I consider how this experience might be applied to developments in the identification of susceptibility genes, pharmacogenetics and in the wider use and storage of genetic information.