Introduction

Somebody told her she’s not going to live forever and she’s been preparing to die ever since.^[1]

23.1 Genetic test information may have profound medical and psychological implications for individuals. These implications will depend on the nature and context of genetic testing—the genetic condition being tested for and the reasons for testing. The results and implications of genetic testing will often be complex and difficult to understand. Some of the factors that create this complexity and uncertainty include the interaction between genes, the interplay between genetic and environmental causes of disease, different patterns of inheritance of genes, the degree of penetrance associated with particular genetic mutations, and the varying accuracy of genetic test results.^[2] For these reasons, and to respond to the ethical implications of tests and results, it is important that individuals are provided with appropriate information about a genetic test and, in some cases, assisted in decision making through genetic counselling.

23.2 The provision of information about a genetic test and genetic counselling are not synonymous. The giving of information is primarily an educational process that utilises printed and audiovisual resources or explanation by a health professional, or both. This can be contrasted with genetic counselling, which encompasses both information giving and the discussion of the implications for the individual in a contextual framework that is unique to each person.^[3]

23.3 This chapter discusses genetic counselling, the need for genetic counselling services, and issues related to its further development as a professional discipline. The chapter then examines the education and training of medical practitioners in clinical genetics, genetic counselling and related ethical issues.