Implementation Guide for the NHS Genomics Medicine Service
Notice
Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
The extensions created specifically for use in Genomics are listed below. Some of the extensions listed may still be in draft and pending further changes once requirements for the GMS have been finalised.
An extension to support recording of additional contacts, who should be contacted regarding questions arising from the service request. This differs from the requester and responsibleClinician.
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="An extension to support recording of additional contacts, who should be contacted regarding questions arising from the service request. This differs from the requester and responsibleClinician." />
<purposevalue="This is a Genomics use case to record who should be contacted regarding questions arising from a Genomics Test Order, along with their contact details, which differs from requester and responsibleClinician." />
"description": "An extension to support recording of additional contacts, who should be contacted regarding questions arising from the service request. This differs from the requester and responsibleClinician.",
"purpose": "This is a Genomics use case to record who should be contacted regarding questions arising from a Genomics Test Order, along with their contact details, which differs from requester and responsibleClinician.",
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="An extension to replicate the changes within R6 to support adding a reference to the body part affected by the diagnosed condition." />
<purposevalue="This is a Genomics use case to support the backporting of R6 functionality to provide reference to the BodyStructure affected by a Condition." />
"description": "An extension to replicate the changes within R6 to support adding a reference to the body part affected by the diagnosed condition.",
"purpose": "This is a Genomics use case to support the backporting of R6 functionality to provide reference to the BodyStructure affected by a Condition.",
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="This extends the Service Request Resource to support the exchange of information describing the method of funding for the Service Request." />
<purposevalue="This extension is a Genomics use case to record the funding category for a ServiceRequest. It is expected this will be populated with a code indicating whether the service request is part of NHS coverage or private, and will be used for reimbursement purposes by receiving labs." />
"description": "This extends the Service Request Resource to support the exchange of information describing the method of funding for the Service Request.",
"purpose": "This extension is a Genomics use case to record the funding category for a ServiceRequest. It is expected this will be populated with a code indicating whether the service request is part of NHS coverage or private, and will be used for reimbursement purposes by receiving labs.",
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="This extends the Patient resource to support the exchange of information about the reason why a patient does not have an NHS Number." />
<purposevalue="This extension is a Genomics use case to record why an NHS Number for the patient has not been provided within a test request. This differs from NHS Number trace status as this indicates reason." />
"description": "This extends the Patient resource to support the exchange of information about the reason why a patient does not have an NHS Number.",
"purpose": "This extension is a Genomics use case to record why an NHS Number for the patient has not been provided within a test request. This differs from NHS Number trace status as this indicates reason.",
An extension to support recording of additional contacts, who should be contacted regarding questions arising from the service request. This differs from the requester and responsibleClinician.
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="This extends the Service Request Resource to support the underlying reason why a Service Request is urgent." />
<purposevalue="This is a Genomics use case to record the reason why an urgent test has been requested. This differs from supportingInfo in that it does not necessarily indicate why the test is being requested." />
"description": "This extends the Service Request Resource to support the underlying reason why a Service Request is urgent.",
"purpose": "This is a Genomics use case to record the reason why an urgent test has been requested. This differs from supportingInfo in that it does not necessarily indicate why the test is being requested.",
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="An extension to record the category of genome sequencing sample." />
<purposevalue="This extension is a Genomics use case to categorise the genome sequencing sample type, whether it is a tumour or germline Sample. This is different to Specimen.type which, for genomics, records the tissue of origin." />
<shortvalue="An extension to record the category of the sample." />
<definitionvalue="This extension allows the recording of the category of a sample for use within Genomics, whether it is a tumour or germline sample." />
"description": "An extension to record the category of genome sequencing sample.",
"purpose": "This extension is a Genomics use case to categorise the genome sequencing sample type, whether it is a tumour or germline Sample. This is different to Specimen.type which, for genomics, records the tissue of origin.",
An extension to allow the referencing to BodyStructure
Definition
An extension to replicate the changes within R5 altering the data type of Specimen.collection.bodySite from CodeableConcept to CodeableReference (bodyStructure).
There are no (further) constraints on this element
Element id
Extension.extension
Short description
Additional content defined by implementations
Alternate names
extensions, user content
Definition
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Comments
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Source of the definition for the extension code - a logical name or a URL.
Comments
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
An extension to allow the referencing to BodyStructure
Definition
An extension to replicate the changes within R5 altering the data type of Specimen.collection.bodySite from CodeableConcept to CodeableReference (bodyStructure).
May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
<descriptionvalue="An extension to replicate the changes within R5 allowing the data type of Specimen.collection.bodySite to act as a CodeableReference (BodyStructure)." />
<purposevalue="Allowing the referencing to bodyStructure" />
<copyrightvalue="Copyright © 2021+ HL7 UK Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html." />
<shortvalue="An extension to allow the referencing to BodyStructure" />
<definitionvalue="An extension to replicate the changes within R5 altering the data type of Specimen.collection.bodySite from CodeableConcept to CodeableReference (bodyStructure)." />
"description": "An extension to replicate the changes within R5 allowing the data type of Specimen.collection.bodySite to act as a CodeableReference (BodyStructure).",
"purpose": "Allowing the referencing to bodyStructure",
"copyright": "Copyright © 2021+ HL7 UK Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.",
"short": "An extension to allow the referencing to BodyStructure",
"definition": "An extension to replicate the changes within R5 altering the data type of Specimen.collection.bodySite from CodeableConcept to CodeableReference (bodyStructure)."