Quality statement 1: Referral for investigation and treatment
Quality statement
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.
Rationale
The time taken to diagnose and treat rare disease varies widely across the healthcare system and delays can negatively impact quality of life. For many rare diseases, the diagnostic pathways cross multiple specialities and use regional and national referral routes. NHS England's Genomic Medicine Service and National Genomic Test Directory are relevant enablers for rare disease diagnosis.
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 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.
Structure
Evidence of processes to ensure that people referred for non-urgent consultant-led treatment because of concerns about a rare disease undergo diagnostic investigations and have first definitive treatment in line with national maximum waiting times.
Data source: Data may need to be collected at local service, specialist service or network level depending on the commissioning arrangements.
Process
a) Proportion of people diagnosed with a rare disease who had diagnostic investigations and first definitive treatment or a decision on non-treatment in line with national maximum waiting times for non-urgent consultant-led treatments.
Numerator – the number in the denominator who had diagnostic investigations and first definitive treatment or a decision on non-treatment in line with national maximum waiting times for non-urgent consultant-led treatments.
Denominator – the number of people diagnosed with a rare disease.
Data source: Data may need to be collected at local service, specialist service or network level depending on the commissioning arrangements. Specific data sources are available for individual rare diseases, for example, the British Society for Rheumatology's National Early Inflammatory Autoimmune Diseases Audit (NEIAA).
b) Proportion of people referred to a consultant-led service because of concerns about a rare disease who had diagnostic investigations and first definitive treatment or a decision on non-treatment in line with national maximum waiting times for non-urgent consultant-led treatments.
Numerator – the number in the denominator who had diagnostic investigations and first definitive treatment or a decision on non-treatment in line with national maximum waiting times for non-urgent consultant-led treatments.
Denominator – the number of people referred to a consultant-led service because of concerns about a rare disease.
Data source: Data may need to be collected at local service, specialist service or network level depending on the commissioning arrangements. Hospital trust data at speciality level is available from NHS England's consultant-led referral to treatment waiting time data. However, this data is not specific to referrals because of concerns about a rare disease.
What the quality statement means for different audiences
Service providers (secondary and tertiary care) ensure that care pathways are in place to undertake diagnostic investigations and provide first definitive treatment or a decision on non-treatment in line with national maximum waiting times for people referred for non-urgent consultant-led treatment because of concerns about a rare disease.
Healthcare professionals (such as hospital consultants) carry out investigation of symptoms and provide first definitive treatment or a decision on non-treatment in line with national maximum waiting times for non-urgent consultant-led treatments.
Commissioners ensure that they commission services with sufficient capacity to carry out diagnostic investigations and provide first definitive treatment or a decision on non-treatment in line with national maximum waiting times for referrals for non-urgent consultant-led treatment because of concerns about a rare disease.
People referred to hospital because of concerns about a rare disease have investigation and first treatment in line with national maximum waiting times. In some cases, it may be more appropriate to decide that their condition should be monitored for a period of time without treatment.
Source guidance
Guide to NHS waiting times in England. NHS Digital (2019), maximum waiting times for non-urgent referrals.
Definitions of terms used in this quality statement
First definitive treatment
First definitive treatment is an intervention intended to manage a patient's disease, condition or injury and avoid further intervention. Often, first definitive treatment will be a medical or surgical intervention. However, it may also be judged to be other elements of the patient's care – for example, the start of counselling. In all cases, what constitutes first definitive treatment is a matter for clinical judgement, in consultation with others as appropriate, including the patient. [Department of Health and Social Care's guidance on consultant-led treatment: right to start within 18 weeks]
Non-treatment
A waiting time clock stop for 'non-treatment' as outlined by rule 5 in the Department of Health and Social Care's guidance on consultant-led treatment: right to start within 18 weeks.
Equality and diversity considerations
People should be supported to overcome potential difficulties in accessing diagnostic 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.