Patents as Incentives for Translational and Evaluative Research: The Case of Genetic Tests and their Improved Clinical Performance

摘要

Clinical genetics has moved with extraordinary speed. Ten years ago, it was focused on a search for inherited single gene disorder mutations, but since the sequencing of the human genome, more than 10 million DNA variants between people have been characterised, and the emphasis is now on identifying genetic variants associated with common diseases. Whilst exciting developments have been made for diseases such as myocardial infarction, diabetes, asthma and several auto-immune conditions, the findings point mainly to sets of genetic variations with modest gene-disease statistical associations. This means the associations between genetic biomarkers and chronic disease are much less certain and far more difficult for clinicians to interpret than those for single gene disorders. Only formal evaluation can provide an evidence base for clinical practice, but not enough of this research is being done and genetic tests are entering routine clinical practice when there is little evidence that they assist doctors and patients.