Quality statement 2: Undiagnosed conditions
Quality statement
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.
Rationale
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 measures
The following measures may be useful to support assurance and improvement. They are examples of how the statement could be measured but may require adaption depending on local, regional and national commissioning arrangements.
Process
Proportion of people with a suspected rare disease that remains undiagnosed after diagnostic investigations who have a documented plan for ongoing review and re-evaluation.
Numerator – the number in the denominator who have a documented plan for ongoing review and re-evaluation.
Denominator – the number of people with a suspected rare disease that remains undiagnosed after diagnostic investigations.
Data source: Data may need to be collected at local service, specialist service or network level depending on the commissioning arrangements.
What the quality statement means for different audiences
Service providers (such as general practices, hospitals, community services and local authorities) have care pathways in place that can support future diagnosis for people with a suspected rare disease that remains undiagnosed after diagnostic investigations.
Healthcare professionals (such as doctors and nurses) ensure people with a suspected rare disease that remains undiagnosed after diagnostic investigations are on a care pathway that can support future diagnosis.
Commissioners ensure that they commission services that have care pathways that can support future diagnosis for people with a suspected rare disease that remains undiagnosed after diagnostic investigations.
People with a suspected rare disease that has not yet been formally diagnosed understand the planned pathway to diagnosis.
Source guidance
Patient experience in adult NHS services. NICE guideline CG138 (2012, updated 2021), recommendations 1.3.1 and 1.3.4.
Babies, children and young people's experience of healthcare. NICE guideline NG204 (2021), recommendation 1.2.17.
Equality and diversity considerations
People should be supported to overcome potential difficulties in accessing services, which may result from the person having to travel a long way to attend appointments, or from them having a disability, cognitive difficulties, or financial barriers. As rare diseases can be identified during pregnancy, diagnostic pathways should include maternity services. If virtual or remote access is used, consideration should be given to minimising digital exclusion.