FHIR Genomics Implementation Guide

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.

QuestionnaireResponse-Genomic Testing

Example of a filled RoD Form.

QuestionnaireResponse

id : NHSDigital-QuestionnaireResponse-Genomics-Example

questionnaire : https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example

status : completed

basedOn

reference : urn:uuid:a40c7ddc-2897-4e3c-bae6-88500e080229

subject

identifier

system : https://fhir.nhs.uk/Id/nhs-number

value : 9999999999

display : A Patient

authored : 2022-12-20

author

type : PractitionerRole

identifier

system : https://fhir.nhs.uk/Id/sds-role-profile-id

value : 921600556514

source

type : Patient

identifier

system : https://fhir.nhs.uk/Id/nhs-number

value : 9999999999

item

linkId : patientDetails

text : Patient Details

item

linkId : givenName

text : First Name

answer

value : James

item

linkId : familyName

text : Last Name

answer

value : Goldsmith

item

linkId : nhs_Number

text : NHS number (or postcode if not not known)

answer

value : 9999999999

item

linkId : birthDate

text : Date of Birth

answer

value : 1980-12-01

item

linkId : declaration4

text : Confirmation of Your Genomic Test and Research Choices

item

linkId : confirmation

text : I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below.

item

linkId : researchConfirmation1

text : I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below

answer

value : True

item

linkId : researchConfirmation2

text : I agree that my data and remainder sample may contribute to the National Genomic Research Library

answer

value : False

item

linkId : isRespondentAttorney

text : Are you completing this form on behalf of someone?

answer

value : False

item

linkId : patientValidation

text : Patient Validation

item

linkId : patientNamecombined

text : Patient Name

answer

value : James Goldsmith

item

linkId : patientSignature

text : Signature

answer

value : JamesG

item

linkId : datePatientCompletedForm

text : Date

answer

value : 2022-12-08

item

linkId : declaration5

text : Healthcare professional use only

item

linkId : healthcareProfessional

text : To be completed by the healthcare professional recording the patient’s choices.

item

linkId : patientCategory

text : Patient category

answer

value

system : https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics

code : adult-own-choice

display : Adult(made their own choice)

item

linkId : testType

text : Test type

answer

value

system : https://fhir.nhs.uk/CodeSystem/test-type-genomics

code : C-WGS

display : Cancer (paired tumour normal) -WGS

item

linkId : remoteConsent

text : Remote consent, recorded remotely by clinician, no patient signature

answer

value : True

item

linkId : responsibleClinician

text : Responsible clinician

answer

value : Mathew Arnold

item

linkId : patientMRN

text : Hospital number

answer

value : 999999999

item

linkId : healthcareProfessionalName

text : Healthcare professional name

answer

value : Mathew Arnold

item

linkId : healthcareProfessionalSignature

text : Signature

answer

value : MathewA

item

linkId : datehealthcareProfessionalCompletedForm

text : Date

answer

value : 2022-12-09

{
    "resourceType": "QuestionnaireResponse",
    "id": "NHSDigital-QuestionnaireResponse-Genomics-Example",
    "questionnaire": "https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example",
    "status": "completed",
    "basedOn":  [
        {
            "reference": "urn:uuid:a40c7ddc-2897-4e3c-bae6-88500e080229"
        }
    ],
    "subject": {
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "9999999999"
        },
        "display": "A Patient"
    },
    "authored": "2022-12-20",
    "author": {
        "type": "PractitionerRole",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/sds-role-profile-id",
            "value": "921600556514"
        }
    },
    "source": {
        "type": "Patient",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "9999999999"
        }
    },
    "item":  [
        {
            "linkId": "patientDetails",
            "text": "Patient Details",
            "item":  [
                {
                    "linkId": "givenName",
                    "text": "First Name",
                    "answer":  [
                        {
                            "valueString": "James"
                        }
                    ]
                },
                {
                    "linkId": "familyName",
                    "text": "Last Name",
                    "answer":  [
                        {
                            "valueString": "Goldsmith"
                        }
                    ]
                },
                {
                    "linkId": "nhs_Number",
                    "text": "NHS number (or postcode if not not known)",
                    "answer":  [
                        {
                            "valueString": "9999999999"
                        }
                    ]
                },
                {
                    "linkId": "birthDate",
                    "text": "Date of Birth",
                    "answer":  [
                        {
                            "valueDate": "1980-12-01"
                        }
                    ]
                }
            ]
        },
        {
            "linkId": "declaration4",
            "text": "Confirmation of Your Genomic Test and Research Choices",
            "item":  [
                {
                    "linkId": "confirmation",
                    "text": "I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below.",
                    "item":  [
                        {
                            "linkId": "researchConfirmation1",
                            "text": "I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below",
                            "answer":  [
                                {
                                    "valueBoolean": true
                                }
                            ]
                        },
                        {
                            "linkId": "researchConfirmation2",
                            "text": "I agree that my data and remainder sample may contribute to the National Genomic Research Library",
                            "answer":  [
                                {
                                    "valueBoolean": false
                                }
                            ]
                        }
                    ]
                }
            ]
        },
        {
            "linkId": "isRespondentAttorney",
            "text": "Are you completing this form on behalf of someone?",
            "answer":  [
                {
                    "valueBoolean": false
                }
            ]
        },
        {
            "linkId": "patientValidation",
            "text": "Patient Validation",
            "item":  [
                {
                    "linkId": "patientNamecombined",
                    "text": "Patient Name",
                    "answer":  [
                        {
                            "valueString": "James Goldsmith"
                        }
                    ]
                },
                {
                    "linkId": "patientSignature",
                    "text": "Signature",
                    "answer":  [
                        {
                            "valueString": "JamesG"
                        }
                    ]
                },
                {
                    "linkId": "datePatientCompletedForm",
                    "text": "Date",
                    "answer":  [
                        {
                            "valueDateTime": "2022-12-08"
                        }
                    ]
                }
            ]
        },
        {
            "linkId": "declaration5",
            "text": "Healthcare professional use only",
            "item":  [
                {
                    "linkId": "healthcareProfessional",
                    "text": "To be completed by the healthcare professional recording the patient’s choices.",
                    "item":  [
                        {
                            "linkId": "patientCategory",
                            "text": "Patient category",
                            "answer":  [
                                {
                                    "valueCoding": {
                                        "system": "https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics",
                                        "code": "adult-own-choice",
                                        "display": "Adult(made their own choice)"
                                    }
                                }
                            ]
                        },
                        {
                            "linkId": "testType",
                            "text": "Test type",
                            "answer":  [
                                {
                                    "valueCoding": {
                                        "system": "https://fhir.nhs.uk/CodeSystem/test-type-genomics",
                                        "code": "C-WGS",
                                        "display": "Cancer (paired tumour normal) -WGS"
                                    }
                                }
                            ]
                        },
                        {
                            "linkId": "remoteConsent",
                            "text": "Remote consent, recorded remotely by clinician, no patient signature",
                            "answer":  [
                                {
                                    "valueBoolean": true
                                }
                            ]
                        },
                        {
                            "linkId": "responsibleClinician",
                            "text": "Responsible clinician",
                            "answer":  [
                                {
                                    "valueString": "Mathew Arnold"
                                }
                            ]
                        },
                        {
                            "linkId": "patientMRN",
                            "text": "Hospital number",
                            "answer":  [
                                {
                                    "valueString": "999999999"
                                }
                            ]
                        },
                        {
                            "linkId": "healthcareProfessionalName",
                            "text": "Healthcare professional name",
                            "answer":  [
                                {
                                    "valueString": "Mathew Arnold"
                                }
                            ]
                        },
                        {
                            "linkId": "healthcareProfessionalSignature",
                            "text": "Signature",
                            "answer":  [
                                {
                                    "valueString": "MathewA"
                                }
                            ]
                        },
                        {
                            "linkId": "datehealthcareProfessionalCompletedForm",
                            "text": "Date",
                            "answer":  [
                                {
                                    "valueDateTime": "2022-12-09"
                                }
                            ]
                        }
                    ]
                }
            ]
        }
    ]
}

<QuestionnaireResponse xmlns="http://hl7.org/fhir">
    <id value="NHSDigital-QuestionnaireResponse-Genomics-Example" />
    <basedOn>
        <reference value="urn:uuid:a40c7ddc-2897-4e3c-bae6-88500e080229" />
    </basedOn>
    <questionnaire value="https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example" />
    <status value="completed" />
    <subject>
        <identifier>
            <system value="https://fhir.nhs.uk/Id/nhs-number" />
            <value value="9999999999" />
        </identifier>
        <display value="A Patient" />
    </subject>
    <authored value="2022-12-20" />
    <author>
        <type value="PractitionerRole" />
        <identifier>
            <system value="https://fhir.nhs.uk/Id/sds-role-profile-id" />
            <value value="921600556514" />
        </identifier>
    </author>
    <source>
        <type value="Patient" />
        <identifier>
            <system value="https://fhir.nhs.uk/Id/nhs-number" />
            <value value="9999999999" />
        </identifier>
    </source>
    <item>
        <linkId value="patientDetails" />
        <text value="Patient Details" />
        <item>
            <linkId value="givenName" />
            <text value="First Name" />
            <answer>
                <valueString value="James" />
            </answer>
        </item>
        <item>
            <linkId value="familyName" />
            <text value="Last Name" />
            <answer>
                <valueString value="Goldsmith" />
            </answer>
        </item>
        <item>
            <linkId value="nhs_Number" />
            <text value="NHS number (or postcode if not not known)" />
            <answer>
                <valueString value="9999999999" />
            </answer>
        </item>
        <item>
            <linkId value="birthDate" />
            <text value="Date of Birth" />
            <answer>
                <valueDate value="1980-12-01" />
            </answer>
        </item>
    </item>
    <item>
        <linkId value="declaration4" />
        <text value="Confirmation of Your Genomic Test and Research Choices" />
        <item>
            <linkId value="confirmation" />
            <text value="I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below." />
            <item>
                <linkId value="researchConfirmation1" />
                <text value="I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below" />
                <answer>
                    <valueBoolean value="true" />
                </answer>
            </item>
            <item>
                <linkId value="researchConfirmation2" />
                <text value="I agree that my data and remainder sample may contribute to the National Genomic Research Library" />
                <answer>
                    <valueBoolean value="false" />
                </answer>
            </item>
        </item>
    </item>
    <item>
        <linkId value="isRespondentAttorney" />
        <text value="Are you completing this form on behalf of someone?" />
        <answer>
            <valueBoolean value="false" />
        </answer>
    </item>
    <item>
        <linkId value="patientValidation" />
        <text value="Patient Validation" />
        <item>
            <linkId value="patientNamecombined" />
            <text value="Patient Name" />
            <answer>
                <valueString value="James Goldsmith" />
            </answer>
        </item>
        <item>
            <linkId value="patientSignature" />
            <text value="Signature" />
            <answer>
                <valueString value="JamesG" />
            </answer>
        </item>
        <item>
            <linkId value="datePatientCompletedForm" />
            <text value="Date" />
            <answer>
                <valueDateTime value="2022-12-08" />
            </answer>
        </item>
    </item>
    <item>
        <linkId value="declaration5" />
        <text value="Healthcare professional use only" />
        <item>
            <linkId value="healthcareProfessional" />
            <text value="To be completed by the healthcare professional recording the patient’s choices." />
            <item>
                <linkId value="patientCategory" />
                <text value="Patient category" />
                <answer>
                    <valueCoding>
                        <system value="https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics" />
                        <code value="adult-own-choice" />
                        <display value="Adult(made their own choice)" />
                    </valueCoding>
                </answer>
            </item>
            <item>
                <linkId value="testType" />
                <text value="Test type" />
                <answer>
                    <valueCoding>
                        <system value="https://fhir.nhs.uk/CodeSystem/test-type-genomics" />
                        <code value="C-WGS" />
                        <display value="Cancer (paired tumour normal) -WGS" />
                    </valueCoding>
                </answer>
            </item>
            <item>
                <linkId value="remoteConsent" />
                <text value="Remote consent, recorded remotely by clinician, no patient signature" />
                <answer>
                    <valueBoolean value="true" />
                </answer>
            </item>
            <item>
                <linkId value="responsibleClinician" />
                <text value="Responsible clinician" />
                <answer>
                    <valueString value="Mathew Arnold" />
                </answer>
            </item>
            <item>
                <linkId value="patientMRN" />
                <text value="Hospital number" />
                <answer>
                    <valueString value="999999999" />
                </answer>
            </item>
            <item>
                <linkId value="healthcareProfessionalName" />
                <text value="Healthcare professional name" />
                <answer>
                    <valueString value="Mathew Arnold" />
                </answer>
            </item>
            <item>
                <linkId value="healthcareProfessionalSignature" />
                <text value="Signature" />
                <answer>
                    <valueString value="MathewA" />
                </answer>
            </item>
            <item>
                <linkId value="datehealthcareProfessionalCompletedForm" />
                <text value="Date" />
                <answer>
                    <valueDateTime value="2022-12-09" />
                </answer>
            </item>
        </item>
    </item>
</QuestionnaireResponse>

Notice

QuestionnaireResponse-Genomic Testing

Propose a change to QuestionnaireResponse-Genomic Testing-Example