Whole Genome Sequencing

From time to time a technology comes along that revolutionises a whole sector. There is little doubt that the ability to quickly and cheaply sequence whole genomes is one such technology, and this was the topic of workshop organised by the PHG Foundation with CSaP on 16 June.

It is easy to overestimate the impact of new technologies, but just as easy to underestimate their impact in the medium to long term. We will find out whether predictions about the next few years come to fruition soon enough, but the full implications of whole genome sequencing over the longer term are further from view and harder to predict. It is certain, however, that being able to read entire genomes will throw up a whole new set of issues that require regulatory consideration. That is why we need to start looking at the implications now.

The PHG Foundation has taking on this challenge and is in the process of writing a report summarising progress in whole genome sequencing to date and making recommendations to government, health providers and researchers. The report will cover sequencing technologies, informatics, and what whole genome sequencing means for inherited diseases, cancer and other applications.

Whole genome sequencing will throw up ethical and legal issues and new regulatory challenges. There will also be practical issues to consider, such as how whole genome sequencing services will be delivered for the NHS and other users.

The workshop tackled these issues and more, with expert participants from academia, medicine and government providing valuable advice on the content of the report and, in particular, the content of the recommendations to be included in its final chapter. The resulting report is eagerly anticipated by all, and will undoubtedly play an important role in helping policy to keep pace with the rapid and profound changes that whole genome sequencing beckons.

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