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investment in the Human Genome

The Human Genome Project started in 1990 and is a continuing project
to map and sequence the entire human genome. Progress has been
dramatic. We are already in a position to diagnose, with much greater
accuracy, those who are affected by the fragile-X syndrome. Progress has
been made in the battle against cancer, the Human Genome Project
having enabled us to identify the genes involved in certain of its forms.
Clinical trials of gene therapy are underway (i.e. the augmentation of the
bad gene with a normal gene). In addition, it is now possible to identify
those who have a susceptibility to developing diabetes, arthritis,
hypertension, and heart disease. In short, over 3000 genetic disorders
have been identified.
We already have a potentially lucrative source of genetic information
about newborn babies. The blood specimen taken from each newborn
infant to test for conditions such as phenylketonuria is an obvious
source of DNA14
. We are already in a position to screen comprehensively
every newborn baby for a large number of genetic disorders. These
advances in genetics have the potential to generate much wider screening
British Medical Bulletin 1998;54(No. 4) 1019
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Screening
programmes and the ensuing ethical and legal problems are considerable.
First, the need to identify the precise meaning of the knowledge we are
acquiring. As there is a complex relationship between genetic and
environmental factors, our forecasts about potential illnesses can only be
statistical judgements. While this is also true when screening for nongenetic conditions or for medical or surgical treatments, the factors
involved in genetic analysis makes the judgement even harder. We shall be
taking life and death decisions based on predictions about a future that
cannot be certain.
Second, we have the issue of extent of screening in the light of the new
knowledge. Should we screen in utero for incurable diseases that are not
realised for at least 40 years? And if we do, should we disclose that
information to the patient or other interested parties?
Third, there is a whole host of potential liabilities15
.