This is the third instalment of M4RD’s comments on the English Rare Diseases Action Plan. I will now discuss Action 8; Extend the remit of the Genomics Education Programme to include non-genetic rare diseases.
Inclusion of non-genetic rare diseases
I have mixed feelings about Action 8. Health Education England’s inclusion of non-genetic rare diseases is very welcome. Indeed, with 20% of rare conditions not having a genetic basis, it is essential these conditions are not neglected. However, simply including non-genetic rare diseases within the remit of the Genomics Education Programme does not feel appropriately representative of a large proportion of patients. The fear is that it will not safeguard against the marginalisation of an already marginalised group.
What’s in a name?
The name itself is ostensibly not inclusive to all people living with rare conditions. Additionally, positioning non-genetic conditions within the remit of a genomics programme may well cause confusion to time-limited healthcare professionals. If non-genetic rare conditions are to be included in education through this route, then there needs to be an active, broader marketing strategy, to counteract the mixed messaging.
Mounting evidence from surveys and events demonstrates that the majority of medical professionals cannot accurately define a rare disease. Raising awareness of rare diseases amongst healthcare professionals needs to start from the very fundamentals – what is a rare disease? There is a risk that rare disease will become synonymous with genomics if this area of medicine is not raised up as its own priority area in education. While there is overlap between the fields Genomics and Rare Disease, they are not one and the same.
Rare Disease Education Ambassador
Lucy has been working with Genomics Education Programme to start the process of broadening its remit to all rare disease (check out their new RD hub). This demonstrates that actions are already being taken as a result of the England Rare Disease Action Plan.
However the point remains that with ever-growing focus on genetics and genomics, the welfare of patients with non-genetic rare conditions needs to be carefully thought out, to prevent further diagnostic odyssey. It is crucial to ensure access to the appropriate MDT for this large patient group, as they will not fall within the remit of Clinical Genetics Services.
Therefore M4RD strongly advocates the appointment of a dedicated Rare Disease Education Ambassador for Health Education England (or something of that ilk). This individual would work closely with overlapping specialisms (including the GEP) but would also have an oversight role, addressing the unmet needs and advocating for the welfare of people with both genetic and non-genetic rare diseases. They would help drive equity of care and ensure that this marginalised group of people have a voice.
Action 9; publish high-quality epidemiological and research papers to increase the understanding of rare diseases
M4RD completely supports research to enhance our understanding of rare diseases. There is a paucity of evidence about patient experience in the medical literature. Review processes tend to place emphasis on the biomedical model of the disease. This Action Point specifies the need for epidemiological research in particular. Epidemiology “is the study of how often diseases occur in different groups of people and why” (according to the British Medical Journal), rather than the health, socio-economic and cultural consequences of living with a rarer condition.
A wealth of ‘lived experience’ data exists in the self-published reports of patient advocacy groups. These groups commonly don’t have the time or the necessary expertise to take this valuable data through the rigid peer-review process. However it is incredibly important that this data is not only citable but aggregated by the likes of NICE, in order to drive healthcare professional awareness.
The signal has to come from within the system
The signalling, that rare disease is relevant to clinical practice, has to come from within the system. Whether that’s by providing a dedicated space for healthcare professional education or including ‘rare disease’ in decision making resources such as NICE Guidelines. How can we expect the workforce to be aware of rare disease when the systems they work in and use are not leading by example?