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We are currently in the midst of a revolution in our understanding of human disease. The greater understanding that has been achieved of many inherited diseases is giving insights into many more common conditions not previously regarded as ‘inherited’. An individual can be identified from a DNA fingerprint obtained from the analysis of a very small DNA sample in a hair root, mouth wash or a blood spot. By the turn of the century, we will know the sequences of most, if not all, human genes. We will have the ‘recipe’ of human life. We may not be able to develop treatments for some years, but we will have the tools for identifying those predisposed to disease. Although the use of genetic tests raises many social, ethical, legal and economic issues, this potential is already with us and we cannot ignore it. Society should already openly be debating the implications of genetic knowledge so that the enormous benefits to human health can be gained without too many suffering from misuse of the technology.
Predictive genetic testing for Huntington's disease has been available in Cardiff since 1987 using linked genetic markers, and since 1993 using direct mutation testing, which can also be used as a diagnostic test. During this period there have been numerous referrals that have required liaison with psychiatric services at all stages of the testing programme.
A series of cases was selected to highlight issues from both genetic prediction and diagnosis that are relevant to psychiatric practice and have arisen during the testing programme.
Issues have been raised concerning competence to consent to testing in the context of psychotic illness; depression and suicidal ideation in test candidates; requests for testing from third parties such as psychiatrists, social services and the courts; and testing of children.
As genetic testing becomes possible for more disorders the lessons learned from Huntington's disease will provide valuable guidelines for counselling.
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