Glossary

The glossary of terms used by NHS England specifications can be found on the NHS Developer Network.

Definition of Terms

When describing genetic tests, different regions and professions sometimes use different words to describe the same entities. Therefore, for the avoidance of confusion, within the context of this guidance the following terms have these definitions:

Term Definition
API Application Programming Interface, the interface through which electronic applications are able to communicate
APIGEE OAuth2.0 Google Cloud’s native API management tool to build, manage, and secure APIs, OAuth 2.0 is the industry-standard protocol for authorization
API-M API Management, team within NHS England responsible for managing national APIs
APSR IHE Anatomic Pathology Structured Report, defining Structured reporting procedures
CG WG HL7 Clinical Genomics Working Group, responsible for the development of the Genomic Reporting Implementation Guide
CI/CITT Clinical Indication (and Test ID/Target Gene), used within the Test Directory to uniquely identify test types
CIS2 NHS Care Identity Service 2, formerly known as NHS Identity, is a new, secure authentication service used by health and care professionals in England to access national clinical information systems.
Consultand Patient's/samples included as part of a test request in order to aid interpretation of the Proband's test results e.g. in the case of familial testing.
CPGC Cellular Pathology Genomic Centres, specialist labs set up to streamline the process of preparing samples for genetic testing.
DICOM Digital Imaging and Communications in Medicine, the standard for the communication and management of medical imaging information and related data
DLP Data Landing Portal, allows data to be transferred securely between organisations through a centrally managed system
DNA Deoxyribonucleic acid, polymer composed of two polynucleotide chains that coil around each other to form a double helix
EDD Estimated Delivery/Due Date, date a pregnant person is expected to give birth if the foetus is carried to full term
EHR Electronic Health Record, system the majority of test orders are expected to originate from
FoT First of Type, NHS England term for alpha build/prototyping
GEL Genomics England Ltd., organization responsible for WGS testing in the UK
GMC General Medical Council, allocates unique codes to all doctors who are registered to practice in the UK
GMS Genomic Medicine Service, used interchangeably for both the programme of work at NHS England and the proposed electronic system for genomic test order management
GLH Genomic Laboratory Hub, the national genomic testing service is delivered through a network of seven Genomic Laboratory Hubs (GLHs), each responsible for coordinating services for a particular part of the country. GLH in the context of this Implementation Guide is taken to mean the GLH entity itself (exclusive of its constituent LGLs). A Home GLH is specifically the GLH responsible for test order management within the requesting clinician's region, for a specific test order.
GOM Genomic Order Management, also Genomic Order Comms, the NHS England Genomics Unit, Informatics programme of work, of which development of a central electronic test ordering solution is a part
GP General Practice/Practitioner, primary care provider for patients in the UK
GTODS Genomics Test Order Data Set, the information that needs to be included to inform a laboratory of what is required for a given diagnostic genomics test.
GU NHS England Genomics Unit, responsible for oversight of Genomics projects within the NHS
HCP Healthcare Professional, any healthcare worker responsible for care of patients
HL7 FHIR R4 Fourth Release of the Health Level 7 Fast Healthcare Interoperability Resources standard
HL7v2 Version 2 of the HL7 standard, widely adopted within Lab messaging
IG Implementation Guide (within this context, as opposed to Information Governance), provides guidance on use of FHIR within a specific context
IHE Integrating the Healthcare Enterprise, standards body aimed at improving exchange of digital healthcare information
ILW IHE Inter-Laboratory Workflow, defining Send-away test communications procedures
IOPS Interoperability Standards Team, NHS England
LAW IHE Laboratory Analytical Workflow, defining Internal laboratory procedures
LBL IHE Laboratory Specimen Barcode Labelling, defining Sample identification procedures
LCC IHE Laboratory Clinical Communications, defining Requests for further clinical information procedures
LCSB IHE Laboratory Code Set Distribution, defining Local lab code sharing procedures
LDA IHE Laboratory Device Automation, defining Laboratory device integration procedures
LGL Local Genomic Lab, lab responsible for Genomic Testing. Where Labs/Laboratories are referenced within this Implementation Guide, this is taken to mean an LGL, unless theses have been explicitly identified as other types of lab e.g. Pathology
LIMS Laboratory Information Management System, the internal system used by labs for work order tracking
LOINC Logical Observation Identifiers Names and Codes, common terminology for laboratory and clinical observations, used widely internationally
LPOCT IHE Laboratory Point of Care Testing, defining Point of care testing procedures
LTW IHE Laboratory Testing Workflow, defining test requesting procedures
mCODE Minimal Common Oncology Data Elements, initiative intended to assemble a core set of structured data elements for oncology electronic health records (EHRs). Publish as an IG by HL7
MDS Master Data Set, minimum dataset required across the majority of genomic test orders
MDT Multi-Disciplinary Team, meetings of groups of doctors and specialists from multiple disciplines to help decide the best route of care for a patient
MESH Message Exchange for Social Care and Health, system which provides the ability to share data directly between health and care organisations and is the nationally recognised mechanism for this method of data sharing.
MNS Multicast Notification System, proposed system to support broadcast of notifications alongside NEMS
NEMS National Events Management Service, enables the sharing of specific health information about a patient in near real-time. Information is shared in the form of event messages, following a publish and subscribe model and using the NHS Spine.
NGIS National Genomic Information System, system used by Genomics Labs, commissioned by NHS England from Genomics England Ltd. Genomics England is a processor for the provision of the NGIS, acting on the instructions of NHS England for the Trusts that provide lab services.
NGTP National Genomic Testing Process, process map developed by the NHS England Genomics Unit for defining the end-to-end genomic testing process
NHS Tha National Health Service, the public body responsible for healthcare provision within the UK
Non-WGS Non-Whole Genome Sequencing, laboratory technique in which particular genes/gene panels are tested for variants.
NPEx National Pathology Exchange, Labnostic exchange hub, connecting almost 200 diagnostic organisations worldwide.
NRL National Record Locator, service which allows users to find and access patient information shared by other health and social care organisations, to support the direct care of a patient.
ODS Organisation Data Service, manages and issues unique identification codes for NHS and affiliated organisations
OML HL7v2 Laboratory Order Message
PaLM IHE Pathology and Laboratory Medicine domain
PDF Portable Document Format, the expected format for unstructured diagnostic reports in the first phases of the Genomic Order Management programme
PDS Patient Demographics Service, the national electronic database of NHS patient demographic data, such as name, address, date of birth and NHS number, and associated API for querying and retrieving this information
PLCM Patient Level Contract Monitoring, to enable the interchange, in a uniform format, of monthly patient level contract monitoring data between commissioners and providers of healthcare.
Proband The primary beneficiary of the genomic test, who the test order is for.
PRSB Professional Records Standard Body, body responsible for setting records standards within the UK
RBAC Role-Based Access Control, an approach to restricting system access to authorized users
READ Coded thesaurus of clinical terms, superseded by SNOMED CT
RESTful Representational State Transfer, a software architecture that imposes conditions on how an API should work.
RoD Record of Discussion, form required to record consent discussion for use of WGS data/results in research
Send-away The process by which a test order is sent to another organization to perform part of the genomic testing, e.g. sample processing, interpretation etc. in order to fulfill the test order.
SET IHE Specimen Event Tracking, defining Sample event tracking procedures
SNOMED CT Systematized Nomenclature of Medicine - Clinical Terms, preferred ontology for coding clinical concepts in the UK, also referred to as SCT
SPINE Spine supports the IT infrastructure for health and social care in England, joining together over 44,000 healthcare IT systems in 26,000 organisations
STU2 Second Standard for Trial Use, indicates the standard has been through two balloting cycles
TAT/SLA Turn-around-time/Service-level-agreement, used to record compliance to national standards for processing of genomic tests
TD Test Directory, repository of test codes and eligibility criteria for Genomic Tests, managed by NHS England
UGR Unified Genomic Record, proposed central repository for genomic related information about a patient
VUS Variants of Unknown Signficance, variations in a genetic sequence whose association with disease risk and significance to function are unclear
WGS Whole Genome Sequencing, laboratory technique in which the entire coding (exon) and non-coding regions of the genome are obtained.
XD-LAB IHE Sharing Laboratory Reports, defining Diagnostic Report distribution procedures