London-based charity Genetic Alliance UK has launched a new Patient Charter setting out the concerns of rare disease patients and families on clinical genome sequencing.
Rare diseases, the majority of which have a heritable, genetic basis, form a key pillar of the English 100,000 Genomes Project, along with cancer. The fast-moving initiative is intended to herald a new era of genomic medicine embedded throughout the National Health Service (NHS), whilst simultaneously creating a unique research resource linking patient medical records and genomic data. The hope is that this will lead to new understanding of disease, new treatments and better diagnostics, and also generate financial returns to further support the UK economy and the NHS in particular.
Genetic Alliance UK brings together more than 160 individual genetic disease-related patient organisations and also established the multi-stakeholder alliance Rare Disease UK .
The new Patient Charter on rare disease treatment evaluation
Launched at a meeting at the Wellcome Trust hosted by the Association of the British Pharmaceutical Industry (ABPI) and Bioindustry Association (BIA), and with an opening address by Life Sciences minister George Freeman, the new charter sets out fifteen recommendations based on patient views in four categories:
- Patients want the option to receive as much information about their health as possible from genome sequencing
- Patients value genetic counselling 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
The charter follows two similar publications released last year that set out rare disease patient perspectives and priorities for the National Institute for Health and Care Excellence (NICE)’s Highly Specialised Technology evaluation framework for rare disease treatments, and for the commissioning of medicines for rare diseases by NHS England. These focused on the need to update evaluation and commissioning processes for medicines intended for use in small populations, typified by very rare disease treatments, including the rapidly evolving understanding of the genetic and molecular basis of disease, and the ‘frequent variation in clinical presentation common in rare diseases’.
What the NHS can learn from rare diseases – and patient advocates
Whilst rare diseases may seem very much a niche area within medicine, this is not necessarily correct. For one thing, whilst individual rare diseases may be incredibly rare, even unique to the best of current knowledge, collectively they are a significant; over 6,000 have been recognised and over three million people in the UK have a rare disease. Moreover, rapid expansion of clinical whole genome sequencing is likely to create a parallel rapid expansion in characterised rare genetic disorders, as recently demonstrated by the Deciphering Developmental Disorders project.
However, moving beyond ‘classic’ genetic disorders, genomics is also opening up exciting new prospects for better understanding and identification of other conditions, including (but not limited to) cancers. In the future it seems likely that rather than being lumped together as one indistinguishable disease entity such as breast cancer, many different sub-categories of condition will be recognised, with distinct prognoses and treatments. Improved knowledge about individual responses to treatments themselves offers increasing scope to stratify patient populations into sub-groups in whom different types and doses of treatment may be appropriate. Broadly speaking, a given illness in a given patient may become increasingly ‘rare’ in terms of optimal medical care. At the same time, patient voices are carrying considerably more clout in recent years.
According to NIHR National Director for Public Participation and Engagement in Research Simon Denegri, the urgency of united patient and health professional voices behind the new Genetic Alliance UK’s recommendations made it not so much a charter as a ‘call to arms’, in line with George Freeman’s comments that the 100,000 Genomes Project would create a revolution in patient empowerment. The role of patients in the project is, of course, central, and few groups of patients could be more eager to see their genomic data put to good research use in the hope of better medical care than rare disease and cancer patients.
One of the earlier patient charters specifically says that: ‘Patients should make the ultimate decision on whether the benefits of a new drug outweigh its risks, in partnership with their doctor’. This would certainly herald a massive shift in approach. However, since the UK government is clear that patient empowerment is crucial in driving innovation and addressing current financial challenges to the NHS, perhaps that shift is underway.