A new quality standard published by NICE sets out what good care should look like for people living with rare diseases across the NHS. The standard includes eight key statements designed to improve diagnosis, support, treatment access and research opportunities for people with rare conditions.
The standards set out a clear, nationally recognised benchmark for the standard of care people with rare conditions should expect. cover key domains that matter to people with rare conditions, including timely diagnosis, coordinated care, mental health support, and access to information and specialist expertise. While the standard applies to all rare diseases, many of the issues it addresses will be familiar to people affected by primary and secondary immunodeficiencies.
The 8 statements cover:
- Referral for investigation and treatment
- Undiagnosed conditions
- Information provision
- Shared decision making
- Named healthcare professional
- Holistic needs assessment
- Access to treatment
- Clinical research
Below we look at the key recommendations and the themes that run through them.
Quality statement 1: Referral for investigation and treatment
People referred to a consultant-led service because of concerns about a rare disease undergo diagnostic investigations and have first definitive treatment or a decision on non-treatment in line with national maximum waiting times for non-urgent consultant-led treatment.
Having a measurable goal for diagnostic investigations and first definitive treatment will help reduce unwarranted variation. Under the NHS Constitution in England, people should wait no longer than 18 weeks from GP referral for consultant-led treatment for non-urgent conditions.
Quality statement 2: Undiagnosed conditions
People with a suspected rare disease that remains undiagnosed after diagnostic investigations are recognised as a distinct patient group by healthcare services and are on a care pathway that can support future diagnosis.
Definitive diagnosis is not always possible immediately after diagnostic investigations. Recognising people with a suspected, but as yet undiagnosed, rare disease as a distinct patient group will improve the safety, efficiency and effectiveness of their diagnosis process. This involves giving people opportunities to discuss their needs throughout the diagnosis process, ensuring they feel heard.
Quality statement 3: Information provision
People undergoing diagnosis for a rare disease, with a newly diagnosed rare disease or with a suspected rare disease that remains undiagnosed after diagnostic investigations are provided with clear and accurate information to aid self-management.
Clear and accurate information about rare diseases can help people self-manage these diseases, undertake activities of daily living and make informed choices. Information needs can change over time as these diseases progress. When information is unclear or inconsistent, it can increase anxiety and reduce people’s ability to participate in decisions about their care.
Find our resources for people living with immunodeficiency visit https://www.immunodeficiencyuk.org/resources/
Quality statement 4: Shared decision making
People diagnosed with a rare disease or with a suspected rare disease that remains undiagnosed after diagnostic investigations are supported to make shared decisions throughout all stages of care.
Clinical outcomes and patient satisfaction are likely to be better when decisions about care are made jointly between the person with the rare disease and their healthcare provider. A person’s preferences about treatment options and outcomes should be discussed, including the impact of travel to specialised centres. People need to have enough information to make informed choices. This should include knowing how to access trusted sources of information.
Quality statement 5: Named healthcare professional
People diagnosed with a rare disease or with a suspected rare disease that remains undiagnosed after diagnostic investigations have a named healthcare professional who coordinates their care.
Rare diseases often affect multiple parts of the body and involve multiple specialities and multidisciplinary teams. Having a named healthcare professional can help ensure care and support is coordinated and that the person can access relevant healthcare professionals, as needed.
Quality statement 6: Holistic needs assessment
People diagnosed with a rare disease or with a suspected rare disease that remains undiagnosed after diagnostic investigations have physical, psychological and emotional support needs assessed at key points of the care pathway.
The physical, psychological and emotional support needs associated with rare diseases can change over time. They should be assessed during the diagnostic process and reassessed regularly to inform care plans. They can result in signposting to relevant support and referral to additional specialist services.
Quality statement 7: Access to treatment
People with a rare disease have equitable access to treatments when recommended by each nation’s health and care guidance body.
Access to new treatments is subject to nation-specific commissioning criteria, and routing and funding mechanisms. For rare diseases, access can also be restricted because of a lack of awareness among healthcare professionals and where a person lives. People unable to access specialist centres are more likely to miss out on treatment. Monitoring uptake of treatments will ensure that people with a rare disease have equitable access to treatment.
Quality statement 8: Clinical research
People with a rare disease are offered the opportunity to take part in clinical research, if available and they are eligible.
Barriers to accessing clinical research can be greater for those people with a rare disease who do not have access to specialist centres and multidisciplinary teams. Measuring participation in clinical research will help improve equitable access. Healthcare providers, specialist centres and networks should identify relevant active research on rare diseases and help the person make an informed choice about whether or not to take part in research.
A step towards better rare disease care
Overall, the new NICE quality standard highlights several important priorities: faster diagnosis, better information and support, coordinated care, fair access to treatment and stronger links to research.
For people living with rare diseases, including immunodeficiencies, these recommendations represent an important step toward more consistent, patient-centred care across the NHS.
