Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, whether his Department plans to develop standardised national guidelines for the (a) identification and (b) treatment of neurofibromatosis type 1 (NF1).

We remain committed to the UK Rare Diseases Framework, which highlights helping patients get a final diagnosis faster, and improved access to specialist care, treatment, and drugs as priorities to improve the lives of people with living with rare diseases.

NHS England commissions a service for adults and children with complex neurofibromatosis type 1 (NF1). This is provided by Manchester University NHS Foundation Trust and Guy's and St Thomas' NHS Foundation Trust. The overall aim of the service is to provide the highest quality of care to people with complex NF1 through accurate diagnosis, including genetic testing, coordinated care from a specialist multidisciplinary team, monitoring of complications of the disease, and referral to other specialties as required. The two national centres and a multi-disciplinary team of senior doctors and nurses co-ordinate diagnosis and long-term care of patients with complex NF1. A referral is needed to access this service, and both centres also accept non-complex NF1 referrals. The clinicians in the complex NF1 team contribute to the evidence base on this condition, including development of international guidelines. Genetic testing for NF1 is available through the NHS Genomic Medicine Service.

The National Institute for Health and Care Excellence (NICE) has no plans to develop a guideline on NF1. With the exception of health technology evaluations, where the NICE's responsibilities are clearly defined, the NICE will not routinely produce guidelines that relate to single rare diseases. Instead, they seek to identify commonalities between conditions to provide products that can be applied across multiple rare disease groups.

NICE guidelines are developed by experts based on a thorough assessment of the available evidence, and through extensive engagement with interested parties. They describe best practice, and healthcare professionals are expected to take them fully into account in the care and treatment of their patients, although they are not mandatory and do not override a clinician’s responsibility to make decisions appropriate to individual patients.