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Reproductive genetics (AO)

Adults Only Conditions

Emergency referrals

If any of the following are present or suspected, refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.

  • No referrals to emergency relating to clinical genetics

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

  • The patient has a personal and/or any family history (blood relatives) of a genetic condition AND the patient or their partner is pregnant and an opinion/genetic testing will guide investigations, management, and outcome in pregnancy

Category 2

Appointment within 90 days is desirable

  • The patient has a personal and/or any family history (blood relatives) of a genetic condition AND the patient or their partner is pregnant and an opinion/genetic testing will guide management of the baby postnatally

Category 3

Appointment within 365 days is desirable

  • The patient has a personal and/or any family history (blood relatives) of a genetic condition AND the patient or their partner is pregnant and an opinion/genetic testing will NOT change management of the pregnancy or the baby postnatally
  • Preconception counselling of couples who are at an increased risk of having children with a genetic condition because of a personal and/or any family history (blood relatives) of a known or suspected genetic condition and/or consanguinity

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

  • The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded genetic test.
  • If there are any queries regarding the appropriateness of a referral please contact GHQ.
  • If the patient is an UNTESTED blood relative of a person with an identified gene mutation/chromosomal anomaly, please refer to the following CPC:
  • Patients will be asked to provide detailed family information either during a telephone consultation or via a family history questionnaire. 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.
  • Pregnant women with a high risk due to advanced maternal age or antenatal serum/nuchal screening investigations, who have not yet had a diagnostic test, should be referred to an obstetrician or maternal-fetal-medicine service initially. A referral to GHQ can then be initiated if there is an abnormality on diagnostic testing.

Referral requirements

A referral may be rejected without the following information.

Essential referral information

  • As much detail as possible about the patient’s or partner’s personal history of disease including the following:
    • clear indication of clinical need for urgency (see above)
    • current gestational age and estimated due date
    • clinical diagnosis and features
    • age at diagnosis
    • treatment (completed and planned)
    • relevant pathology (if results are available on Auslab please indicate this on referral)
    • relevant imaging results (especially antenatal imaging)
    • details and results of genetic testing if performed (especially NIPT, CVS, and amniocentesis)
  • Presence or absence of relevant family (blood relatives) history

Additional useful information (useful for processing the referral)

  • Known details of relevant family history (first and second-degree blood relatives) including:
    • Clinical diagnosis/features and age at diagnosis
    • Relation to patient including whether maternal or paternal
    • Autopsy reports if relevant and available
  • If the family is known to GHQ, the GHQ reference number (GF)
  • If the family are known to another genetic service, the name of the service and family reference number (if available)

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.

  • 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

  • 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

  • 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

  • Full name (including aliases)
  • Date of birth
  • Residential and postal address
  • Telephone contact number/s – home, mobile and alternative
  • Medicare number (where eligible)
  • Name of the parent or caregiver (if appropriate)
  • Preferred language and interpreter requirements
  • Identifies as Aboriginal and/or Torres Strait Islander

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

  • Willingness to have surgery (where surgery is a likely intervention)
  • Choice to be treated as a public or private patient
  • Compensable status (e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.)
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