NHS England, through its role in the direct commissioning of specialised services, is ideally placed to improve the care of patients who have rare diseases.
This is the Implementation Plan setting out NHS England’s delivery contribution tothe UK Strategy for Rare Diseases.
The Plan sets out NHS England’s proposed actions against all of the commitments in the Strategy for which it has a lead responsibility. In particular, the Plan aims to address the following three objectives
- Facilitating earlier diagnosis and intervention
- Improving care coordination
- Promoting research.
Of particular note are the following key actions:
The continuing progress of the 100,000 Genomes Project and the concurrent development of a genomic testing strategy that will underpin the development of a new genomic medicine services for the NHS
The development of a set of criteria that will allow NHS England to hold providers to account for the way in which they treat patients with rare diseasesvia a rare disease ‘insert’ to the standard NHS Contract
- The development of Rare Disease Collaborative Networks. These will be groups of providers who have a demonstrable research-active interest in a rare/very rare disease, with the aim of improving patient outcomes
STU3 moves beyond FHIR DSTU2 Standard Genetics profile on Observation allowing increased granularity and less ambiguity by creating a new resource to be called Sequence. This resource will be used to hold clinically relevant sequence data in a manner that is both efficient and versatile integrating new and as yet undefined types of genomic and other -omics data that will soon be commonly entered into health records for clinical use. Sequence will be leveraged by other FHIR resources, including Observation. This is consistent with how all FHIR resources are designed and used.
The September 2014 Informative Ballot (“HL7 Clinical Genomics, Domain Analysis Model: Clinical Sequencing Release 1”) provided guiding use cases, which initially informed development of the initial Standard Genetics profile that is found in FHIR DSTU2. The same use cases also led to a second Project to develop a Sequence resource (“Develop FHIR sequence resource for Clinical Genomics”).
The FHIR guidance documentation continues to develop, but the latest version is available here: