The GDPR now explicitly mentions, and even defines, pseudonymisation, namely the processing of personal data so they can no longer be attributed to a specific data subject without the use of additional information (provided certain measures are in place to prevent re-identification). Coding is commonly used in health research and can, in some cases, act as a pseudonymisation technique. The question arises as to whether pseudonymised data are no longer personal data and hence no longer subject to the GDPR.

GA4GH Chair Ewan Birney participated in the creation of the first reference human genome and is now involved in the roll-out of large-scale clinical genomics. His story is illustrative of a much bigger movement of genomics into healthcare over the past decade.