Report on clinical genome sequencing

The PHG Foundation, an independent genomics think-tank, has launched a new report on next generation sequencing and its impact on health and health systems. The Report, Next steps in the sequence: the implications of whole genome sequencing for health in the UK can be freely downloaded and aims to provide a comprehensive overview of the many and varied issues relating to clinical genome sequencing.

When planning the work, we were motivated by the astonishingly rapid development of fast, affordable whole genome sequencing (WGS) technologies, which are set to change many aspects of health care. The sheer quantity and complexity of the information generated by genome sequencing, along with ever-changing understanding of the function of genomes in health and disease, presents new challenges for health systems.

The Report reviews the technologies, informatics pipeline and key clinical applications of WGS, and as well as the economic, ethical, legal and social implications and organisational challenges of offering WGS within the UK NHS. The final two policy chapters outline different scenarios for testing, storing and returning results, and contains 10 key recommendations reached with the help of several expert stakeholder workshops.

We concluded that the potential benefits of new high-throughput genome sequencing technologies are substantial, particularly for improved diagnosis and management of inherited diseases and cancer, and more personalised use of treatments and therapies. However, key strategic challenges include the need for NHS biomedical informatics expertise and databases of genomic variation, to allow targeted and evidence-based analyses, and recognising the potential cost savings associated with achieving a molecular diagnosis.

Although not the focus of the report, the impact of direct-to-consumer (DTC) genetic testing is considered briefly in the context of different service delivery models. We made no recommendations about the controversial question of regulation (though the PHG Foundation has previously taken a fairly liberal stance on this issue, calling for proportionate oversight), but concluded that it could become a major driver in the near future once WGS becomes more affordable.

Perhaps one of the most novel conclusions relates to the treatment of incidental findings (i.e. findings that are unrelated to the clinical question) – a very topical issue that will feature more in future GNZ posts. We drew a comparison between incidental findings and opportunistic screening, recommending that incidental findings should be avoided where possible in the clinic, and that more evidence is needed of the population impact of genomic variants before wider genome screening could be considered. Although this might seem controversial to those who are actively debating the ethics of returning such findings to research participants, it perhaps reflects the importance of a public health perspective in the application of genomics.

Disclaimer: I am the lead author of this report.

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2 Responses to “Report on clinical genome sequencing”


  • Caroline, thanks for this – it’s a lot of work. In the UK the infrastructure of Regional Genetics Centres already exists, and is well placed to be the (or a) major route whereby the fruits of the genomic revolution are delivered to the populace. It will require a fair amount of adjustment by clinical geneticists, and significant upskilling in areas such as interpreting genomic data and applying this to therapeutics (an area we have traditionally steered clear of, perhaps). However, it strikes me that this resource is too good to be left to one side. Many of the critical linkages and relationships have already been established.

  • A comprehensive study. I heard Prof Armand Leroi (Imperial) recently evangelising for standard genome sequencing within the NHS. Would probably save lots of money (and lives) on adverse drugs reactions.

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