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Biomedical ethics: genetics

BMJ 2003; 327 doi: (Published 01 September 2003) Cite this as: BMJ 2003;327:0309320
  1. Pierre Mallia, family doctor and lecturer in family medicine and biomedical ethics, Faculty of Medicine and Surgery1
  1. 1University of Malta

Pierre Mallia looks at the ethics behind genetic advances and explains what all the fuss is about

Debates about the ethics of genetics often lead us to think that we are talking about something that goes on in a laboratory. The word “engineering” is subconsciously linked to people in white coats ready to engineer people with more muscle power or a better brain. Although these scenarios seem a distant possibility, research is looking at improving genes and curing genetic defects. Although most medical conditions have a genetic basis, curing diseases genetically is beyond the scope of this article. More pressing issues affect us today. The ethical issues mostly lie in the realm of genetic testing and screening.

As for any other test, we distinguish between testing and screening. You test a particular gene of a person; conversely you screen a population or a cohort of it for a particular genetic condition. So, a woman may choose to have a genetic test to see if she is at risk of developing breast cancer. Countries, on the other hand, may screen a population to try to control the penetrance of a genetic trait. Cyprus, for example, started screening couples for thalassaemia trait before they got married. The orthodox church cooperated with the government by requesting a certificate before they took their vows. In this way the number of marriages in which both were heterozygous for thalassaemia was controlled, decreasing the incidence of homozygous individuals. In addition to this, couples who did get married and who were both found to be heterozygous were counselled on how to decrease the chances of having a baby with thalassaemia major (the homozygous condition). This is where ethical problems lie.

Genetic counselling

Although the World Health Organization hailed Cyprus's methods, the counselling couples were given was directive, as …

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