Laboratory Strategies in Biochemical Genetics

Abstract

Over the last two decades the scope of human biochemical genetics has increased greatly: the number of individual disorders that have been identified and clinically characterised, the range of biological system affected, and the techniques available for diagnosis. Assimilating these advances into routine health care in a rational and cost-effective manner is a major challenge. It requires from clinicians a restrained, informed approach to test requesting with an appreciation of the strengths and weaknesses of investigation at the different biological levels: metabolite, protein, or gene. On the laboratory side, there is a hierarchy of investigation. Some tests should be available urgently in any hospital with an acute paediatric service. Others, perhaps also urgent, can only be effectively provided as regional specialist services. Such services are benefiting from new, high-throughput analytical techniques such as tandem mass spectrometry which may also open up new areas of metabolism to investigation. However, capital costs are high and experienced staff essential. More detailed investigations and rarely-used confirmatory tests tend to be concentrated yet further with some, perhaps only recently developed, available only in one or two academic centres in the world. There are inevitably tensions within this “system” and a collaborative networking approach throughout is essential if health gain from scientific advance is to be optimised.