Genomic sequencing technologies are no longer purely confined to the research lab, but more and more centres across the world are using these in clinical settings. Clinical genetics services, other health care professionals, and patients in the UK are beginning to question how these can best be used within their own area, and anticipation is heightened by initiatives such as the 100,000 Genomes Project, promising to create ‘a lasting legacy for patients, the NHS and the UK economy through sequencing 100,000 genomes’.

As part of the PHG Foundation’s Realising Genomics project, we wanted to develop a practical and detailed understanding of how using these technologies through gene panels and exome sequencing might have an impact on patient experiences by changing patient pathways.

We held a workshop in February 2014 to evaluate the effect on patient pathways and analyse the ethical, legal and social challenges (ELSI) that might result. The workshop debate and our preliminary findings are summarised in a briefing note, Genomic sequencing technologies and patient pathways .

Our view so far

Our preliminary view is that what counts, in terms of ethical, legal and social issues, is how much of the genome is interpreted rather than how much is sequenced. A step-wise approach seems the most efficient and pragmatic option: this would start with targeted sequencing and interpretation of genes that are known to be linked with specific conditions, moving to sequencing all coding regions (exome sequencing) and interpreting a wider set of genes, through to sequencing the entire genome and interpreting an even wider set of genes within that sequence.

 What next?

In the final two workshops in the Realising Genomics series in July 2014, we will be evaluating different approaches, and the infrastructure and processes that are needed (particularly for interpreting variants, feeding back results, and re-analysing that data when new knowledge becomes available).

Our ultimate aim is to generate policy recommendations that support the responsible and effective implementation of these technologies into the clinic, which will be published in Autumn 2014.