Patient charter on genome sequencing is a call to arms to the NHS, charities and researchers

It is one of the boldest and most exciting initiatives in UK health research and care that I have witnessed.  It’s also happening at lightning speed.

In the eighteen months since the Prime Minister announced the 100,000 Genomes Project to coincide with the NHS’s 65th birthday in 2013, we have gone from almost a standing start to being on the eve of patients with rarer diseases and some of the commonest forms of cancer being recruited to take part.  By 2017 the aim is to have sequenced 100,000 genomes from patients which will lead to better diagnosis, insights into disease and hopefully new interventions and therapies.

For those who think that the NHS does ‘lacklustre’ all too well, they should have heard the Life Sciences Minister, George Freeman  MP, speak this morning.  Reflecting on his recent visit to the US he was adamant that the UK is stealing a march on its international competitors when it comes to genome sequencing.  Having myself been out to Canada in the last few weeks, I can vouch for this.  They might have the technology.  But not the infrastructure or people or co-ordination.

I am not sure what politicians mean when they say they want to ‘weaponise’ the NHS.  What I do know is that, in terms of embedding research in patient care and making it part of a high quality health system, the NHS IS a weapon that few if any other countries can emulate.

The focus being brought to bear on the 100k Genomes Project has meant some innovative solutions being adopted to get things off the ground, away from the clutches of the bureaucrats.  Symbolic of this is Genomics England itself which was set up as a company owned by the Department of Health to spearhead the work.  Prior to Christmas NHS England appointed 11 centres around England where patients will be recruited.  I am involved in developing the PPI strategy for one of these, the North Thames GMC. It is a daunting but thrilling challenge.

But one can only feel that this is just the beginning.  Alastair Kent, CEO of Gentic Alliance UK today talked about genomics eventually permeating and penestrating the whole of healthcare.  I think he might just be right.  It is worth adding that Scotland, Wales and Northern Ireland also have similar initiatives in the pipeline.

So what of patients and their families in this venture?

Today, Genetic Alliance UK which has been holding a week-long series of public engagement events on genome sequencing #GenomeSeqWeek, published a Patient Charter entitled ‘Genome Sequencing: what do patients think?’  Based on the views of 144 patients recruited through the members of Genetic Alliance UK, Rare Disease UK and SWAN UK, the Charter puts forward 15 recommendations grouped under four statements:

  • Patients want the option to receive as much information about health as possible from genome sequencing
  • Patients value genetic counselling and are keen for the support of genetic counsellors before and after genome sequencing
  • Patients welcome the sharing of their genomic data for research purposes
  • Patients think that the NHS needs to make more progress towards preparing for the integration of genome sequencing into clinical practice

George Freeman launched the charter today by stating that whole genome sequencing would lead to a revolution in patient empowerment leading to greater choice over how their information is used in care and research.  Listening to the discussion afterwards it was compelling to hear the sense of urgency reflected by the rare disease community – patients, clinicians and health professionals – in the room.  This is not just a charter, I thought, but a call to arms.

93% of patients who took part in the ‘Charter’ exercise said they wanted their sequenced genome to be made available for research.  The vast majority wanted to see it happen across the NHS and would be likely to give their consent for it to take place.  80% trusted the NHS with their data, but charities and private companies were trusted by only 63% and 31% respectively.  Perhaps it has something to do with how people perceive these sectors behaving toward patients.  At the very least, it suggests these sectors have a lot more to do to ‘get with the programme’ and demonstrate their trustworthiness.

As Rachel Jeffares (SWAN UK Parent representative), said at the meeting: ‘knowledge is power.’  Rachel talked eloquently about the importance of information to patients in giving them some sense of control over a situation where often they felt none.  The perception that somehow this information is being withheld or used against their permission is disempowering at the least and potentially harmful to the relationship we wish to build with users of our health service, I would add.

Before I had to leave the meeting I was struck by the ensuing conversation that about the need for more genetic counsellors in the UK.  Also for there to be better training and resourcing of these colleagues, and for them to have accreditation as professional body.  There are only 300 genetic counsellors across the nation and it would seem terribly important for us to grow and better support this important group of professionals if we are going to really facilitate patient choice as a result of genome sequencing.




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