The 100,000 Genomes Project: ensuring the public and patient voice is heard

Our Public & Patient Involvement (PPI) Manager, Hildegard Dumper recently took part in a consultation event focusing on the issue of informed consent for people signing up to the 100,000 Genomes Project. She shares her thoughts and reflections…

Genomics England in conjunction with NHS England are running a series of consultations is running series of consultations around the country on changes being considered in order to make it easier for people agreeing to take part in the project. The aim is to do so without compromising the necessarily rigorous framework for informed consent.

There are currently 13 GMCs in the UK, including one in the West of England, working with Genomics England to deliver the 100,000 Genomes Project, which is the largest national sequencing project of its kind in the world.

100,000 genomes from NHS patients with rare diseases and cancer will be sequenced and analysed, to better understand the genetic causes of these diseases.

The West of England AHSN is one of the partners in the West of England Genomic Medicine Centre, leading on public and patient involvement (PPI). I was invited to join a consultation workshop in Taunton, hosted by the South West AHSN, along with Adele Webb, a public contributor on both our AHSN board and the West of England Genomic Medicine Centre’s board.

So on a sunny Friday morning, Adele and I met at Taunton train station to share a taxi to the Musgrove Hospital Academy. There we met up with the two researchers running the evaluation from Imperial College London, as well as three more public contributors from the South West.

Markella Boudioni, a researcher from NIHR Imperial Biomedical Research Centre, Patient Experience Research Centre and West London Genomic Medicine Centre explained the background to the evaluation, taking us through the issues and key questions they were trying to address.

A considerable amount of time was spent on the issue of patients receiving information about other conditions that might be discovered unexpectedly, whether and how we should invite people to opt in or out of that. This opened up a particularly thoughtful discussion about the huge impact on families of sharing the information that an inherited condition was present in the family and its implications for the future. We were able to bring to this our personal experiences.

It clearly is in Genomics England’s interest to understand this, as one way or another there are clear resource implications. The current paperwork is considerable but it is difficult to know how they might get around some of the questions around consent that need to be asked.

We were asked to review current patient information material, including consent forms for both cancer and rare disorders and opt in and out forms.  The discussion ranged over the style of written material for patients, how to mitigate the bulk of text and the use of plain and accessible language.

We also covered different methods of presenting information in order to be inclusive – offering alternatives to online access, for example. In considering recruitment, we looked at the key points in the patient pathway and how recruitment might be more effectively embedded in the process, together with different PR approaches to encourage take-up.

Markella was very skilful at pursuing clarification, channelling our thinking on key issues and in encouraging suggestions and improvements to the patient approach.

The focus group was clearly helping to inform the moves to improve the material being given out. It felt like a very practical and positive contribution towards the patient experience and pathway, especially when we were invited to propose and explore solutions.

Both Adele and I found it extremely useful to have been part of the consultation as it helped us understand some of the challenges faced by NHS England in rolling this out and gave us a deeper appreciation of some of the ethical dilemmas associated with the project.

Going the extra mile for Genomics

Deborah Evans, Managing Director of the West of England AHSN, shares her experience of interviewing people as part of the 100,000 Genomes Project.

When I first joined the NHS, in a busy District General Hospital in the South Wales Valleys in 1982, I was inspired by the way that staff were all going the extra mile to support their hospital. They were raising money, volunteering, working extra hours and generally pouring their hearts into the NHS ethos of altruism.

I’ve always thought of my time in South Wales as more of an education than a training (!) but that impressive commitment has always remained with me.

Over the last few weeks a number of us have been doing qualitative interviews with people who have experienced rare diseases or cancer, and their carers.

The idea is that through the 100,000 Genomes Project, the NHS will be the best in the world at harvesting blood and tissue samples, so that we can learn more about the human genome and benefit from wider genetic testing to directly improve services for both current and future patients.

In our telephone survey work I have heard inspiring, first-hand stories from people who, when faced with cancer or a rare familial disease, have not only coped with extraordinary life-changing challenges for themselves or their families, but still have the commitment to contribute more for other people.  Sometimes they have lost their partner or experienced the long term illness and disability of a child or sibling. Sometimes our respondents are facing painful, distressing disability themselves.

It has been humbling, challenging and uplifting to talk to these people who are, nevertheless, fundraising, volunteering in outpatient clinics, working with Health Watch or even playing national and international roles in non-statutory organisations to help people they’ve never met.

Through our telephone interviews we have, as always, gathered very rich and useful insights that will help us plan our new services for the West of England Genomics Partnership.

But for me it has been much more than this. Every person I’ve spoken to has reminded me why I joined the NHS in the first place.