This article starts with an ethical dilemma that illustrates the power of genetic testing, a power that may lead clinicians to initiate genetic investigation inappropriately. The interpretation of genetic tests depends on an accurate pedigree. This often involves checking pathological data from distant members of the family. Also, genetic tests may reveal information that, although interesting academically, may not be useful for the patient or the family.
An abnormal genotype does not mean that serious future problems are inevitable. The outlook of many genetic syndromes, even trisomy 21, can be extremely variable. Clinicians who perform genetic tests need to understand this and will often need help from geneticists, perhaps to restrain genetic determinism. Obstetricians and gynaecologists should be as cautious before ordering genetic tests as they would be before committing the patient to a major surgical operation.
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