Diagnostics; making a difference

Pharmacogenomics - 21st Century IVDs

In the USA alone, one hundred billion dollars, or around ten percent of the health care budget, is spent on drugs. The drug failure rate is variously estimated to be between ten and forty percent, and the death-toll from adverse side effects is over one hundred thousand patients in a year. By understanding which genetic factors are responsible for whether or not a patient will benefit from a drug, or will be at risk of a particular side effect, it is possible to develop tests to predict these responses before exposure to the drug. This is the science of Pharmacogenomics.

The benefits promised by this approach fall into three areas. Firstly, the patient gets well sooner, as the optimal drug is prescribed at the outset of therapy, and there is no need for experimentation, also reducing risk. Secondly, a reduction in medical costs due to reduction in waste, improved compliance and increased patient satisfaction is predicted. Finally, identification of genetic variability, improved knowledge of the nature of disease, and the increased likelihood of discovery of new cures will all improve medical knowledge.

Who, then, will carry out these new tests as they become available? Generally accredited to a quality standard, experienced in analytical techniques and quality assurance, well versed in I.T., the pathology laboratory seems the obvious candidate, with pharmacogenomics as an extension of, or perhaps a precursor to, therapeutic drug monitoring.

To properly appreciate the cost utility of the pharmacogenomic approach, however, the way the pathology department is costed will need to change. If the cost of testing is just lumped into the 'pathology overhead', there is a significant risk that the recognition of the value, or even the actual use, of pharmacogenomics might be thwarted.

In the USA, Francis Collins, Director of the Washington-based National Human Genome Research Institute heralds pharmacogenomics as part 'of the next revolution in medicine'. The sooner the service the laboratory delivers is costed to each medical discipline, the more likely that it's true value and cost utility will be recognised, and the sooner the way will be prepared for the optimal use of this revolution on these shores.