AFFECTED blood relative of an individual with an identified gene mutation/chromosomal anomaly (confirmatory testing)

Adult and Paediatric Patients

Does your patient wish to be referred?

Minimum referral criteria

Does your patient meet the minimum referral criteria?

Category 1

Appointment within 30 days is desirable

A pregnancy in which both of the following criteria are met:
- individual or their partner has a personal and/or family history of an intellectual disability/neurodevelopmental diagnosis (see examples in category 3)
- an opinion/assessment will guide investigations, management, and outcome in pregnancy
Please refer to Prenatal and reproductive genetics

Category 2

Appointment within 90 days is desirable

Affected individual who meets both of the following criteria:
- has a confirmed or suspected genetic diagnosis of one of the following:
  - any genetic diagnosis and a limited life expectancy
  - cardiac genetic diagnosis
  - genetic intellectual disability diagnosis and regression of skills
  - congenital retinal dystrophy and there is availability of early treatment
  - renal genetic diagnosis and a living related kidney donor is being considered
- has a blood relative with a confirmed genetic diagnosis (listed above), where a specific gene mutation/chromosomal anomaly HAS been identified

Category 3

Appointment within 365 days is desirable

Affected individual who meets both of the following criteria:
- has a confirmed or suspected genetic diagnosis (not listed in category 2)
- has a blood relative with a confirmed genetic diagnosis (not listed in category 2), where a specific gene mutation/chromosomal anomaly HAS been identified

For examples of genetic diagnoses, please refer to Specialty/disorder specific CPC within the Genetics CPC

If your patient does not meet the minimum referral criteria

Consider other treatment pathways or an alternative diagnosis.

If you still need to refer your patient:

Please explain why (e.g. warning signs or symptoms, clinical modifiers, uncertain about diagnosis, etc.)
Please note that your referral may not be accepted or may be redirected to another service

Other important information for referring practitioners

Not an exhaustive list

In order to offer confirmatory genetic testing, the patient/carer needs to be able to provide sufficient information for GHQ to obtain details of the familial gene mutation/chromosome anomaly and where possible, familial control sample of DNA for testing. This information may include one or more of the following:
- names and DOB of family members
- details of the genetic services where genetic testing has been done
- family letters
- copies of genetic test reports

This information need not be included with the referral but will subsequently be requested by GHQ.

Patients/carers will be asked to provide detailed family information during a video telehealth or telephone consultation. One or more ‘Consent to Release information’ forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
Confirmatory genetic testing should only be offered following written informed consent.
Confirmatory testing will not be offered for the following:
- variant of uncertain significance (class 3 variant)
- variant in a gene of uncertain significance (i.e. limited/refuted gene-disease association)
- variant that has been identified using a non-accredited clinical laboratory (e.g. research genetic testing or Direct to Consumer testing).
GHQ may provide families with partially completed referral proformas to facilitate referrals for this clinical indication. These referrals need to be completed IN FULL by the referring doctor.
If the patient has a very limited life expectancy, arrange for a blood collection of 2x4mL EDTA tubes to be sent to the Molecular Genetics Laboratory, Pathology Queensland (RBWH) for “DNA extraction and storage” prior to or at the time of referral.
Clinical urgency is the dominant consideration in the prioritisation of a referral for a child currently in out of home care (OOHC), or at risk of entering or leaving OOHC.
The offer of an appointment by GHQ does not guarantee that the patient will be offered a publicly funded genetic test.

Referral requirements

A referral may be rejected without the following information.

Essential referral information

Clear indication of clinical need for urgency (see above)
Known details of relevant family history including:
- name of genetic diagnosis
- relation to patient including whether maternal or paternal
- name of the gene in which a mutation has been identified or details of the chromosomal anomaly identified
  To preserve confidentiality, do not include details or attach reports which identify another family member with the referral

As much detail as possible about the patient’s personal history of disease including the following:
- clinical diagnosis and/or clinical features
- treatment (completed and planned)
Relevant non-genetic investigations and clinical assessments:
- pathology (e.g. haematology, biochemical, endocrine, histopathology, urinalysis)
- imaging (e.g. USS, CT, MRI, X-ray)
- organ/speciality specific (e.g. echocardiogram, ERG/VEP, NCS, EEG)
- speciality specific report
  Please indicate on referral if results are available within ieMR and/or Auslab
Details and results of genetic testing (if performed)
Please indicate on referral if results are available within ieMR and/or Auslab
Confirmation of out of home care (OOHC) (where appropriate) and contact details to send correspondence for OOHC

Additional useful information (useful for processing the referral)

GHQ reference number (GF) if the family is known to GHQ
- attach the “family information letter” if available
Family reference number and name of the service if the family are known to another genetic service
- attach the “family information letter” if available
To preserve confidentiality, do not include details or attach reports which identify another family member with the referral

Out of catchment

Metro North Health is responsible for providing public health services to the people who reside within its boundaries. Special consideration is made for patients requiring tertiary care or services that are not provided by their local Hospital and Health Service. If your patient lives outside the Metro North Health area and you wish to refer them to one of our services, inclusion of information regarding their particular medical and social factors will assist with the triaging of your referral.

Clinical Modifiers (where relevant)

Impact on employment
Impact on education
Impact on home
Impact on activities of daily living
Impact on ability to care for others
Impact on personal frailty or safety
Identifies as Aboriginal and/or Torres Strait Islander

Reason for Referral (essential)

To establish a diagnosis
For treatment or intervention
For advice and management
For specialist to take over management
Reassurance for GP/second opinion
For a specified test/investigation the GP can’t order, or the patient can’t afford or access
Reassurance for the patient/family
For other reason (e.g. rapidly accelerating disease progression)
Clinical judgement indicates a referral for specialist review is necessary

Clinical Information (essential)

Presenting symptoms (evolution and duration)
Physical findings
Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
Body mass index (BMI)
Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
Current medications and dosages
Drug allergies
Alcohol, tobacco and other drugs use