Personal genomics

In recent years an increasing number of companies have started to offer genotyping services via direct to consumer (DTC) testing.  Such companies will analyse a sample of a person’s DNA, provide a report analysing the results, and set up an account where customers can compare their genome data with a regularly-maintained database of sequences and their associated traits.  The traits tested for vary from one company to another.  A typical analysis might include information about ancestry, whether a person carries genes that are known to cause disease if inherited by future generations, and a probabilistic assessment of whether the customer is at increased risk of a range of inherited diseases. The US Food and Drug Administration (FDA) recently launched a review of Direct to Consumer (DTC) testing, in view of .the proliferation of such tests. Within the European context, similar efforts are being made in order to clarify what the market scenario has to offer now, the projections for the near future, and whether the current regulatory frame (or absence off) will be able to protect the consumer.

This POST note will look at the accuracy of the tests, and the strength of the evidence linking specific gene sequences to an increased risk of developing certain conditions (i.e. clinical validity).  It will also examine current guidelines and regulations governing the sale of genetics tests direct to the consumer, both within the EU as well as globally, the control and access to data, the clinical validity and utility of the results, the requirements for informed interpretation, access to counselling, and the potential burden that this emerging market may exert on NHS personnel. For further information, please contact Dr Ana Padilla.