Haematology genetics disorders – (excluding cancers)

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 and their partner have abnormal haemoglobin studies suggestive of a haemoglobinopathy genetic diagnosis (see examples in category 3)
- an opinion/assessment will guide investigations, management, and outcome in pregnancy
Please refer to Prenatal and reproductive genetics

A pregnancy in which both of the following criteria are met:
- individual or their partner has a personal and/or family history of a non-haemoglobinopathy haematology genetic 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

Individual with a confirmed or suspected haematology genetic diagnosis (see examples in category 3) and a limited life expectancy
Individual with a confirmed or suspected haematology genetic diagnosis (see examples in category 3) and a living related bone marrow donor is being considered
Unaffected and untested individual who meets both of the following criteria:
- has a blood relative with a confirmed haematology genetic diagnosis (see examples in category 3), where a specific gene mutation has been identified
- is being considered as a living related bone marrow donor

Please refer to Unaffected (predictive/pre-symptomatic testing)

Category 3

Appointment within 365 days is desirable

Individual with a confirmed or suspected haematology genetic diagnosis. Examples include:
- haemoglobinopathy
  - alpha thalassaemia
  - beta thalassaemia
  - sickle cell anaemia
- haemophilia
- congenital anaemia
- inherited platelet disorders
- bone marrow failure syndromes
- hereditary spherocytosis
- disorders of immune dysregulation
  Please refer to Immunogenetic disorders
Individual who has a blood relative with a confirmed haematology genetic diagnosis (see examples above), where a specific gene mutation has been identified
Please refer to Affected (confirmatory testing)

Please refer to Unaffected (predictive/pre-symptomatic testing)

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

A referral for both parents of a child (if available) is very useful.
If the patient is an untested blood relative of an individual with an identified gene mutation/chromosomal anomaly, please refer to the following:
- Affected (confirmatory testing)
- Unaffected (predictive/pre-symptomatic testing)
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.
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)
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 family history (blood relatives)
Relevant non-genetic investigations and clinical assessments:
- pathology (e.g. haematology, histopathology)
- organ/speciality specific (e.g. haemoglobinopathy studies, platelet studies, enzyme analysis)
- 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