For analysis purposes only - not an active or planned project. This referral is not expected to be implemented within this IG; it is expected to be implemented via a Genomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic Order Management Service.

A closed-loop clinical referral into a genomics/clinical genetics service (see Genetic Referrals), modelled on the IHE 360X HL7 v2 referral order OMG^O19 with OSU^O51 status updates (see Referral Request [PCC-55]) - not a laboratory order. The referral itself stays small: clinical content travels as forms, clinical documents (pathology report, patient summary) and family history referenced from the referral.

This is a logical model - it is not exchanged as is. It breaks down into ServiceRequest, Patient, PractitionerRole, Organization, HealthcareService, QuestionnaireResponse, RelatedPerson, Observation and clinical documents (DocumentReference or a FHIR Document Bundle).

Originating referral identifier, assigned by the referrer and used in every message

e.g. active, completed, revoked

Urgency of the referral

When the referral was made

The proband. Same items as Genomic Test Order's patient.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

• value @ url

May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

NHS Number of the patient

Local hospital number of the patient

Patient surname

Patient first name

Patient date of birth

Address line(s) and postcode

Administrative gender

Patient account number

Links the proband to consultands (at-risk relatives) referred as part of the same family investigation. Not a Patient identifier.

The referring clinician and organisation. Same items as Genomic Test Order's requester.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

• value @ url

May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Referring clinician name

Referring clinician specialty

e.g. GMC/GMP number

Referring clinician email

Referring clinician telephone

ODS code of the referring organisation

Who the referral is sent to - a named clinician or a service/clinic. Genomic Test Order has no equivalent: an order's Order Filler is fixed.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

• value @ url

May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

e.g. clinical genetics clinic

ODS code of the receiving organisation

Named clinician, if any

The clinical service/assessment requested (e.g. genetic counselling, cascade testing) - not a Genomic Test Directory code. For a clinical genetics referral this is SNOMED CT 306119003.

Suspected/confirmed condition

Brief free-text note, if no family letter is attached

Completed referral forms, e.g. a national GMS test order form or a service-specific referral form, as structured answers.

A named at-risk relative being referred alongside the proband - one per relative

The pathology report supporting the referral. Ideally a reference to a clinical document shared via the NHS England Single Patient Record (SPR); in the interim this may be an attached PDF (DocumentReference -> Binary). NHS England NDRS also holds Cancer Pathology Reports.

The patient summary, as a clinical document. Not part of the NHS England Genomics ServiceRequest specification.

Structured family history (FamilyMemberHistory, one per relative), or the unstructured family letter as a clinical document. At present clinical genetics is believed to retrieve structured family history from NHS England NDRS (National Disease Registration Service). NDRS is a reporting/analytical service, so the information may not be current.

For analysis purposes only - not an active or planned project. This referral is not expected to be implemented within this IG; it is expected to be implemented via a Genomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic Order Management Service.

A closed-loop clinical referral into a genomics/clinical genetics service (see Genetic Referrals), modelled on the IHE 360X HL7 v2 referral order OMG^O19 with OSU^O51 status updates (see Referral Request [PCC-55]) - not a laboratory order. The referral itself stays small: clinical content travels as forms, clinical documents (pathology report, patient summary) and family history referenced from the referral.

This is a logical model - it is not exchanged as is. It breaks down into ServiceRequest, Patient, PractitionerRole, Organization, HealthcareService, QuestionnaireResponse, RelatedPerson, Observation and clinical documents (DocumentReference or a FHIR Document Bundle).

Originating referral identifier, assigned by the referrer and used in every message

e.g. active, completed, revoked

Urgency of the referral

When the referral was made

The proband. Same items as Genomic Test Order's patient.

NHS Number of the patient

Local hospital number of the patient

Patient surname

Patient first name

Patient date of birth

Address line(s) and postcode

Administrative gender

Patient account number

Links the proband to consultands (at-risk relatives) referred as part of the same family investigation. Not a Patient identifier.

The referring clinician and organisation. Same items as Genomic Test Order's requester.

Referring clinician name

Referring clinician specialty

e.g. GMC/GMP number

Referring clinician email

Referring clinician telephone

ODS code of the referring organisation

Who the referral is sent to - a named clinician or a service/clinic. Genomic Test Order has no equivalent: an order's Order Filler is fixed.

e.g. clinical genetics clinic

ODS code of the receiving organisation

Named clinician, if any

The clinical service/assessment requested (e.g. genetic counselling, cascade testing) - not a Genomic Test Directory code. For a clinical genetics referral this is SNOMED CT 306119003.

Suspected/confirmed condition

Brief free-text note, if no family letter is attached

Completed referral forms, e.g. a national GMS test order form or a service-specific referral form, as structured answers.

A named at-risk relative being referred alongside the proband - one per relative

The pathology report supporting the referral. Ideally a reference to a clinical document shared via the NHS England Single Patient Record (SPR); in the interim this may be an attached PDF (DocumentReference -> Binary). NHS England NDRS also holds Cancer Pathology Reports.

The patient summary, as a clinical document. Not part of the NHS England Genomics ServiceRequest specification.

Structured family history (FamilyMemberHistory, one per relative), or the unstructured family letter as a clinical document. At present clinical genetics is believed to retrieve structured family history from NHS England NDRS (National Disease Registration Service). NDRS is a reporting/analytical service, so the information may not be current.

For analysis purposes only - not an active or planned project. This referral is not expected to be implemented within this IG; it is expected to be implemented via a Genomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic Order Management Service.

A closed-loop clinical referral into a genomics/clinical genetics service (see Genetic Referrals), modelled on the IHE 360X HL7 v2 referral order OMG^O19 with OSU^O51 status updates (see Referral Request [PCC-55]) - not a laboratory order. The referral itself stays small: clinical content travels as forms, clinical documents (pathology report, patient summary) and family history referenced from the referral.

This is a logical model - it is not exchanged as is. It breaks down into ServiceRequest, Patient, PractitionerRole, Organization, HealthcareService, QuestionnaireResponse, RelatedPerson, Observation and clinical documents (DocumentReference or a FHIR Document Bundle).

Originating referral identifier, assigned by the referrer and used in every message

e.g. active, completed, revoked

Urgency of the referral

When the referral was made

The proband. Same items as Genomic Test Order's patient.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

• value @ url

May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

NHS Number of the patient

Local hospital number of the patient

Patient surname

Patient first name

Patient date of birth

Address line(s) and postcode

Administrative gender

Patient account number

Links the proband to consultands (at-risk relatives) referred as part of the same family investigation. Not a Patient identifier.

The referring clinician and organisation. Same items as Genomic Test Order's requester.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

• value @ url

May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Referring clinician name

Referring clinician specialty

e.g. GMC/GMP number

Referring clinician email

Referring clinician telephone

ODS code of the referring organisation

Who the referral is sent to - a named clinician or a service/clinic. Genomic Test Order has no equivalent: an order's Order Filler is fixed.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

• value @ url

May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

e.g. clinical genetics clinic

ODS code of the receiving organisation

Named clinician, if any

The clinical service/assessment requested (e.g. genetic counselling, cascade testing) - not a Genomic Test Directory code. For a clinical genetics referral this is SNOMED CT 306119003.

Suspected/confirmed condition

Brief free-text note, if no family letter is attached

Completed referral forms, e.g. a national GMS test order form or a service-specific referral form, as structured answers.

A named at-risk relative being referred alongside the proband - one per relative

The pathology report supporting the referral. Ideally a reference to a clinical document shared via the NHS England Single Patient Record (SPR); in the interim this may be an attached PDF (DocumentReference -> Binary). NHS England NDRS also holds Cancer Pathology Reports.

The patient summary, as a clinical document. Not part of the NHS England Genomics ServiceRequest specification.

Structured family history (FamilyMemberHistory, one per relative), or the unstructured family letter as a clinical document. At present clinical genetics is believed to retrieve structured family history from NHS England NDRS (National Disease Registration Service). NDRS is a reporting/analytical service, so the information may not be current.