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What next for genomics? Providing answers, changing lives, transforming the NHS

10 July 2017
Appeared in BioNews 908

'What Next for Genomics? Providing Answers, Changing Lives, Transforming the NHS' – a packed public event which took place on 4 July 2017, produced by the Progress Educational Trust (the charity which publishes BioNews) in partnership with Genomics England – saw the Chief Medical Officer for England, Professor Dame Sally Davies, launch her report 'Generation Genome'.

The report details how genomic medicine stands to improve health and prevent illness, and outlines Professor Davies' 'genomic dream' of a day when genomic medicine is part of routine care. By the time we all gathered at the Wellcome Collection in London to hear Professor Davies speak, her report had already been the focus of intense media attention (summarised elsewhere on BioNews).

Genomic medicine aims to improve people's health by sequencing, analysing, and then applying information obtained from a person's whole genome – all of the genetic code that controls and regulates the way their body works.

The immense difficulties in understanding the human genome have been apparent since 2003, when the Human Genome Project was finished and the first complete human genome was sequenced. Nonetheless, our understanding of the genome has improved substantially over the past 15 years, and we are now in a position to make greater use of it in a clinical setting.

Indeed, Professor Davies explained that the 100,000 Genomes Project – which aims to sequence 100,000 genomes from patients with cancer, rare diseases and infectious diseases (and their families) – has already provided proof of principle that genomic medicine can be implemented within the NHS. Some benefits are therefore already being seen, but Professor Davies' dream is for these benefits to be 'democratised' – that is, more widely adopted in a fully equitable manner from which the wider public can benefit.

Progress in genomic research to date is an achievement to be proud of, but Professor Davies was careful to remind the audience that the true value of this progress will come from the benefits it is expected to confer to patients. One of her fellow speakers at the event argued that the benefits envisioned from genomic medicine are almost limitless, and are expected to impact on all areas of medicine – from prediction and prevention, to diagnosis, to treatment.

Professor Davies' report is long and comprehensive. It has been more than a year in the making, and its chapters – written by leading figures in various genomics-related fields – include detail on drug development, cancer diagnosis, rare diseases, personalised prevention, pathogen genomics, cancer screening, newborn screening and prenatal testing, among other subjects.

Professor Davies' presentation was followed by responses from three other panel speakers – Professor Sue Hill (the NHS Chief Scientific Officer for England), Professor Sir Stephen O'Rahilly (Head of Clinical Biochemistry at the University of Cambridge), and Professor Michael Parker (Director of the University of Oxford's Ethox Centre and Chair of Genomics England's Ethics Advisory Committee). All presentations were infectiously enthusiastic, and it was hard to not to get caught up in the excitement.

Importantly, however, both the report and the event were careful to highlight a number of logistical, ethical, and economic challenges to the wider adoption of genomic medicine. For example, the sheer amount of data that will be obtained from sequencing genomes raises important questions about consent, privacy and security, and about whether – and by whom – the data is put to commercial use.

Professor Davies sought to reassure us that such data is subject to strict safeguards, and that criminal sanctions will be applied to those who misuse it. She was also quick to reiterate that it is only with the sharing of such data that we can expect to learn even more about genomics, and therefore improve care for patients. Michael Parker suggested that we may be approaching a stage where the risks of not sharing and exploiting this wealth of genomic data are worse than the significant risks of doing so.

There was also discussion about how the genomics revolution will require changes to healthcare organisation and delivery. Professor Davies explained that more centralised centres of genomic medicine will be needed, to pool expertise and resources. This will require a move away from regional areas of expertise organised around local interests, and such a change may be met with resistance. The complexity of genomic data will also mean that the best care will only be achieved through truly multidisciplinary teams – doctors will increasingly have to work with statisticians, bioinformaticians and data scientists.

A key concern that emerged, echoed by genetic counsellors in the audience, was how healthcare professionals could be better supported to communicate complex findings to patients – especially in cases where a variant may be predictive of a disease later in life, or where the impact of a variant may not yet be fully understood.

These challenges are formidable, but there was a sense in the room – in the audience as well as on the panel – that people believe the challenges can be overcome. The 'Generation Genome' report states: 'Genomics is not tomorrow. It's here today.' I for one am excited to see just how beneficial this endeavour will be for patients' lives.

The Progress Educational Trust would like to thank Genomics England, NHS England and the Chief Medical Officer for collaborating on this event.

Generation Genome
Chief Medical Officer |  4 July 2017
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