Genetic Alliance UK launch the Patient Charter at the Wellcome Trust in London.

The Patient Charter is the result of extensive work and research carried out by Genetic Alliance UK. The document makes 15 recommendations for consideration before genome sequencing becomes widely incorporated into NHS services. Those at the official launch and watching online heard from the Minister for Life Sciences, George Freeman, and representative panel of speakers discussing the charter and the work still to be done.

George Freeman MP, Minister for Life Sciences

George Freeman MP, Minister for Life Sciences

In his opening remarks, the Minister confirmed the government’s commitment to genomic medicine and establishing the UK as the world leader in the field. Relating to Genomics England, he likened it to “the NASA of biomedicine” for the ambition in what they are trying to achieve. He was keen to point out that the 100,000 Genomes Project is not just a technology project, but about successfully integrating it into the NHS, making the patient voice so important. Empowering the patient, building real patient power, and making sure that qualified professionals are there to guide them through the journey.

Alastair Kent OBE, Director of Genetic Alliance UK, then gave his opening remarks before chairing the discussion stating: “It is a hugely, hugely, exciting time to be involved in this arena…It’s like sitting on a volcano knowing its about to erupt”. He then gave a brief overview of the charter, stressing the need to implement the benefits of genomics in a sustainable fashion. While patients want to know more, the NHS need to do more to be able to make use of that same information and communicate it back to them. “Genome sequencing is going to permeate and penetrate the whole of healthcare if it’s going to fulfil its potential.” However, for this to happen, there will need to be massive investment to build the workforce and infrastructure to support it.

Following the opening remarks, the discussion was open to the panel and the floor. Georgie Hall (St Mary’s Hospital Manchester) was representing genetic counsellors on the panel, and was quick to raise the difficulties they are experiencing in becoming a regulated profession.

Rachel Jeffares kindly gave her time to give the perspective of a family affected by a rare genetic disease. She made a powerful case for letting patients and their families have as much information as they can get, so that they can make well informed decisions. 

Nick Lench (Chair of the Joint Committee on Genomics in Medicine, and COO of Congenica) made a very good point in his opening remarks: “As a profession we are very cautious..” going on to say that the patient voice will also be an important force in driving things forward.

Nicola Perin (Head of Policy at the Wellcome Trust) moved the conversation in a slightly different direction. She pointed out that we are typically dealing with a group of patients that is very well informed. Specifically in the case of rare diseases, and that this is not the case for the general public and potential future patients. She called for more empirical evidence to support ethical policy and to inform the social aspects involved.

The panel was completed by Jo Whittaker of the UK Genetic Testing Network. She shared some very valuable observations. The technology is already there to produce and gather data, but the time it takes to turn that into accurate and actionable information is lengthy. As we start to deal with whole genomes, this may become even more time consuming. She was also startled to find relatively little supporting information for patients explaining the technology itself. This is something she was keen to do something about through her own organisations.

The first point of discussion came from Anna Middleton of the Sanger Institute. Despite so much mention of genetic counsellors in the Patient Charter, she pointed out that they are struggling to be heard as a profession, echoing Georgie Hall’s remarks. She also shared her very valid concerns that there simply aren’t enough genetic counsellors to meet the demand they will be facing as a result of the 100,000 Genomes Project. 

Genetic counselling was one of the main points of discussion. From regulating the profession, increasing numbers and transfer of skills. In the case of the 100,000 Genomes Project, not every patient will require the same level of counselling. Vivienne Parry of Genomics England pointed out that rare disease patients will have already been down a long road by the time they get sequenced, and many cancer patients might not need counselling at all. Nicola Perin added that scaling up to a population level would require a more proportionate approach to genetic counselling. Sarah Wynn (Information Officer at Unique) added that genetic counsellors undoubtedly make for a much better patient experience. They help patients to understand their diagnosis as well as offer them the appropriate support they need. Alastair Kent went on to say that patients should be given the opportunity for genetic counselling rather than it being a hoop they need to jump through as part of a process.

Patient experience is an important consideration. While genetic counsellors do offer a crucial service, how patients get to that point still needs to be addressed. Front line clinicians need to have a base level of understanding to act appropriately, and have familiarity with the step process that genetic counsellors use to help patients understand difficult information. At present many patients will receive a diagnosis and then recommended to seek genetic counselling, leaving them confused and potentially feeling vulnerable. 

The Patient Charter shows how much patients value genetic counsellors. The pressure is now on to give the profession the same level of respect given to other healthcare professions and to help grow their numbers and share their expertise.

The other main point of discussion concerned how much information to share with a patient. The popular view is that only clinically actionable information should be shared, and only when it is well supported by enough data. As Sandy Starr of the Progress Education Trust pointed out, there are a lot of ‘grey areas’ at the moment. Variants that may or may not have a significant effect. When sequencing identifies one of these, should the patient be made aware? In a prenatal context, this could lead to some very serious decisions being made over inconclusive results. Conceptually, and in practise, this is a very tough question to answer. Rachel Jeffares gave the patient view on the matter, and one that is echoed in the Patient Charter “Patients want the option to receive as much information about their health as possible from genome sequencing”. She said it can be difficult to keep getting test results back telling her “it’s nothing, when it’s quite clearly something”. Even if no one quite knows what that ‘something’ might be, she’d still prefer to know that it’s there.

Genomic research is another big topic that came up in discussion. Does the pressure to publish in high impact journals, impede timely knowledge sharing? Similarly, does the pressure for commercial investment restrict what you can and can’t publish? We consistently hear about the need to not work in silos, and to share knowledge, pooling information and not waste resources working on the same things. But the reality is that, there is a significant funding tangle to navigate before that can take place quite as openly as we might like.

The Patient Charter is a very important document at a very important time. Following the disillusionment at the lack of miracle cures following Human Genome Project, we are seeing a lot of hype directed towards genomics right now. Both in the USA and in the UK it is a point of political focus, and an area that promises a lot to all of us. There is still a very long way to go, and an almost overwhelming amount of work to be done to successfully integrate genomics into healthcare systems in a sustainable fashion. 

The Patient Charter gives patients a voice that they rarely get. Both the Charter and discussions such as today’s help to break down an enormous task into more manageable goals. They are anything but easy to achieve. The good news is that all the stakeholders are pulling in the same direction. 

 Genetic Alliance UK have done a fantastic job in pulling everything together. To find out more about there work please visit their website at and find out how you can support them and get involved.