Prenatal and reproductive genetics

Adult and 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 a confirmed or suspected genetic diagnosis
- an opinion/assessment will guide investigations, management, and outcome in pregnancy
For examples of genetic diagnoses, please refer to Specialty/disorder specific CPC within the Genetics CPC
- A pregnancy in which both of the following criteria are met:
  - abnormal fetal imaging
  - an opinion/assessment will guide investigations, management and outcome in pregnancy
- A pregnancy in which both of the following criteria are met:
  - abnormal CVS/amniocentesis testing and/or abnormal fetal imaging
  - couple are UNDECIDED regarding a termination of pregnancy

Category 2

Appointment within 90 days is desirable

A pregnancy in which both of the following criteria are met:
- abnormal CVS/amniocentesis testing and/or abnormal fetal imaging
- couple have decided to proceed with a termination of pregnancy
A pregnancy in which all of the following criteria are met:
- abnormal CVS/amniocentesis testing and/or abnormal fetal imaging
- couple have decided not to proceed with a termination of pregnancy
- an opinion/assessment will guide management of the baby after delivery
A pregnancy in which both of the following criteria are met:
- individual or their partner has a personal and/or family history of a confirmed or suspected genetic diagnosis
- an opinion/assessment will guide management of the baby after delivery
Individual with a history of termination of pregnancy due to one or more of the following:
- structural anomalies and/or growth anomalies
- confirmed genetic diagnosis on genetic testing
Individual with history of death of their child under 1 year due to a confirmed or suspected genetic diagnosis.

Category 3

Appointment within 365 days is desirable

- A pregnancy in which all of the following criteria are met:
  - abnormal CVS/amniocentesis testing and/or abnormal fetal imaging
  - couple have decided not to proceed with a termination of pregnancy
  - an opinion/assessment will not guide management of the baby after delivery
- A pregnancy in which both of the following criteria are met:
  - individual or their partner has a personal and/or family history of a confirmed or suspected genetic diagnosis
  - an opinion/assessment will guide investigations, management, and outcome in pregnancy or for the baby after delivery
- Preconception counselling of an individual with a confirmed or suspected genetic diagnosis.For examples of genetic diagnoses, please refer to Specialty/disorder specific CPC within the Genetics CPC
  - Preconception counselling of an individual with a family history of a confirmed genetic diagnosis, where a specific gene mutation/chromosomal anomaly has been identified
    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 the following 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, including gestation and expected date of delivery (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:
- antenatal imaging (e.g. USS, MRI)
- pathology (e.g. haematology, biochemical, endocrine, histopathology)
- imaging (e.g. USS, CT, MRI, X-ray)
- speciality specific (e.g. echocardiogram, ERG/VEP, NCS, EEG, fetal post-mortem report)
- speciality specific reportPlease indicate on referral if results are available within ieMR and/or Auslab
Details and results of genetic testing (if performed) (e.g. NIPT, CVS, amniocentesis)
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)

Known details of relevant family history including:
- clinical diagnosis/features and age at diagnosis
- relation to patient including whether maternal or paternal
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