Rare disease: final progress report

6. Recognising the Challenges

We know challenges remain for the rare disease community, some of which have been highlighted in the earlier chapters in this report. It’s important for our rare disease policy going forward that we recognise those challenges, learn from them and use those learnings to inform what we do next.

One major challenge has dominated the final year of implementation for the rare disease strategy and will likely have an effect on the rare disease community for some time.

6.1 COVID-19

One of the biggest challenges faced recently by all is the COVID-19 pandemic. The pandemic has brought unprecedented challenges for everyone and we recognise the existing challenges for the rare disease community have been even more prevalent as a result.

The safety and continued provision of the care and treatment that the rare disease community need remains a priority for both the Scottish Government and NHS Scotland during the current pandemic. On 23 October 2020 we published Coronavirus (COVID-19): Scotland’s Strategic Framework which sets out our strategic approach to suppress the virus to the lowest possible level and keep it there, while we strive to return to a more normal life for as many people as possible. The Framework is supported by a collection of documents which details Scotland’s phased approach through and out of the COVID-19 crisis.

Additionally we seen the publication of the Re-mobilise, Recover, Re-design: The Framework for NHS Scotland on 31 May, which sets out how health boards will safely and incrementally prioritise the safe resumption of some paused services, while maintaining COVID-19 capacity and resilience. We know this is particularly important for rare disease patients.

Some rare disease patients in Scotland would have been advised to shield from March 2020 as they were identified as being at an extremely high clinical risk from severe illness from COVID-19.  Although shielding was paused in July 2020, in January 2021 those on the shielding list were contacted by the Chief Medical Officer to advise that they follow additional precautions which included not attending work in person and working from home, during the phase 4 restrictions.  We know that even more rare disease patients will have been identified as being at a higher risk from severe illness from COVID-19 than the general population. In Scotland, we averted taking a blanket approach to shielding. Some rare disease patients were added automatically on to the shielding list due to the nature of their condition. However, not all rare disease patients at the highest clinical risk from COVID-19 were identified through this exercise. Clinicians were able to make a clinical decision on individual patients and add them to the shielding list should they have deemed it clinically necessary, which may have benefited many rare disease patients.

For rare disease patients however, we understand that in many cases the patient or carer may have more knowledge about their own condition than their local clinician due to the rarity and understanding of the rare condition. This would have meant that the clinical decision on whether
a rare disease patient should shield or not was more even more challenging than those with a more common disease.

We continue to learn from the COVID-19 pandemic, however the lessons learned from the identification of shielding patients has brought to the forefront the importance of our work on ‘Empowering Those Affect By Rare Disease’ in chapter 1 and we will ensure this is reflected in our future rare disease policies.

The Genetic Alliance UK published a report titled ‘The Rare Reality of COVID-19’ and describes the impact of the pandemic, and the UK’s response to it, on the lives of people with a rare condition. The report, which comprises findings from the EURORDIS Rare Barometer Survey and Genetic Alliance UK’s weekly community catch ups, highlights that the pandemic has served to amplify the levels of isolation and anxiety ordinarily felt by many people living with rare conditions.

The report explains the impact of shielding, disruption of services and interruption of access to ongoing health care for those with rare conditions. Findings from the EURORDIS Rare Barometer Survey show that around half of people with rare conditions have not attended their usual hospital appointments during the pandemic. The reasons given included fear of contracting COVID-19, and unit closure.

There has however, been a positive move to remote consultations, with more than 80% describing the experience as useful. Telemedicine was identified in the first UK Strategy for Rare Disease as a potential tool to improve care coordination for rare diseases and whilst the implementation of telemedicine during the pandemic has been welcome, it must be remembered that remote consultations do not work for everyone and we must continue to strive for equity of access for all.

‘The Rare Reality of COVID-19’ puts forward recommendations to address how best to improve matters during the pandemic for people living with rare conditions, successfully transitioning from the crisis state, and applying what has been learnt for the future. The Scottish Government will consider these recommendations for our future policies.

6.2 National and International Collaboration

The uncertainty around the UK Exit from the EU remains a challenge as highlighted in the Section on ERNs at 4.4.

Whilst we continue to work closely with colleagues in the rest of the UK on this matter, ERNs have also been facing an unprecedented challenge to help rare disease patients who are also affected by COVID-19 to receive care for their specific needs. Scotland is contributing to the efforts by the European Commission through the COVID-19 Clinical Management Support System (CMSS) which supports doctors, nurses, and other healthcare professionals in all over the EU, UK and the EEA countries. This system allows professionals to communicate easily with colleagues, exchange knowledge, discuss cases and improve training, namely via webinars. A full list of initiatives and information can be found here. We will continue to collaborate through these networks to share knowledge and best practice for the benefit of rare disease patients.

6.3 Communication

We acknowledge the need to improve our communication with the rare disease community regarding progress in our rare disease policy. Additionally we recognise that by having targeted communication channels for the rare disease community it provides an open dialogue which cannot only benefit and influence rare disease policy but allow other parts of government to tap into the network when needed. This would have been particularly useful throughout the COVID-19 pandemic.

We are grateful however for partners like Genetic Alliance UK who particularly during the COVID-19 pandemic were instrumental in communicating relevant support and guidance to the rare disease community through their Genetic Alliance UK’s COVID-19 information hub. The hub was established to support the UK’s genetic, rare and undiagnosed community during the COVID-19 pandemic. It provides quick and easy access to relevant information and will be updated regularly while COVID-19 remains a threat to health.

We will learn from the work of Genetic Alliance UK and others and use that collaboration to develop a communication plan and targeted communication channels going forward.

6.4 Genomics

We have seen great progress made genomics in Scotland particularly with the work on ‘The Bridge to a Scottish Strategy for Genomics’ as set out at 5.1 as led by our partners in NHS Services Scotland National Services Division, who have commissioning responsibility for Genetic Laboratories in Scotland.

The evaluation results from the bridge work will inform our next steps. It should be noted our work on genomics has been particularly affected by COVID-19. Both staff and equipment was deployed elsewhere in the system to support efforts on the response to the pandemic which meant progress came to a halt in some areas.

Advancements in genomics can greatly benefit the health care system however, long term planning needs to be in place to support its implementation. Much of the work up until now has very much been focused on research, a challenge for the Scottish Government will be to translate what we have learned through this research to embed it into routine healthcare.

In September 2020, the Scottish Government signalled support for the UK Governments Genome UK: the future of healthcare Strategy. The Strategy provides a useful statement of the current position of Genomics Medicine across the UK, along with potential benefits and a vision for further development over a 10 year period.

Work has begun on how the Strategy will be implemented, ensuring it accommodates the separate population needs, structures and NHS system we have here in Scotland.