Genetic testing describes the application of laboratory methods to look at a person’s genes (the inherited DNA instructions). Genetic tests can be used to diagnose a genetic condition; screen for a risk of developing a particular health problems; for the selection of treatments; or to assess responses to treatments. Testing is via a blood or tissue sample. With best practice, counseling may be required, depending on the test outcome.
Draft European regulations governing the use of medical devices could lead to a restriction in genetic testing. This would be limiting genetic tests to a narrower range of scenarios.
The restrictions are not supported by medical research backers. A group got together to express concerns that the proposals would limit the availability of genetic testing, and this would not be to the benefit of society.
According to the U.K. Medical Research Council, genetic tests are being considered as the European Union redraws the rules governing the manufacture and sale of all medical devices, including in vitro diagnostic devices. This covers the range from blood glucose monitoring kits for diabetes and home pregnancy tests, to complex hospital assays.
The new rules carry a proposed stipulation that genetic tests should only be conducted by a qualified medical professional and after a prescription has been signed-off.
Some scientists are concerned that this will stop the practice of blood being sampled at birth, by a healthcare professional, to screen for genetic disorders. There are also concerns that these limitations will hamper disease research.
An example of such research is the 100,000 Genomes Project. This is a complex and technically challenging project, to enable the U.K. National Health Service (NHS) to offer genomic medicine to those patients who need it in the future. The project also aims to create a national resource of sequence data linked to clinical records. This would include cancer samples.
These concerns suggest that the European Union proposals need re-examining.