Information for practitioners

Who are we?

GHQ clinicians provide a range of services to patients, families and health systems across the state. We are a lifespan service, supporting individuals and families from pregnancy and family planning, through to children and adult diagnosis and counselling. Our team of clinical geneticists and genetic counsellors can:

• make a genetic diagnosis and/or identify & organise appropriate genetic testing
• provide information about natural course, prognosis and management for patients diagnosed with a genetic condition
• support interpretation and counselling regarding genetic test results
• clarify risk of an individual having a genetic condition based on their family history
• counsel individuals at risk of an adult-onset genetic condition and arrange presymptomatic (predictive) testing
• counsel families and couples regarding the possibility of a genetic condition in their baby
• support genetic testing during a pregnancy (diagnostic or predictive)

Genetic conditions may present in pregnancy, childhood and adulthood, across all health domains. Referrals to GHQ should be considered at any time if a clinician suspects a genetic diagnosis in an individual, pregnancy or family. An early referral provides the best opportunity to assist the individual or family. Any referral should first be discussed with the patient or family.

GHQ clinicians and counsellors are also available to support other health professionals in providing safe and informed genetic healthcare:

• advice regarding referrals to Genetic Health QLD
• advice around identifying and organising appropriate genetic testing
• clinical queries regarding patients with a known genetic condition
• bridging clinical care and research
• genetics education, upskilling and workshops

Who to refer

Common reasons for referral include, but are not limited to:

• Children or adults with a genetic or chromosomal diagnosis (known or suspected).
• Children or adults with multiple congenital anomalies, significant developmental delay or intellectual disability or significant concerns with growth.
• Individuals with a personal and/or family history of a genetic condition who are seeking counselling, particularly before starting their family.
• Individuals who have a personal or strong family history of cancer.
• Pregnant couples with a fetus suspected or known to have a genetic condition.
• Couples who are at an increased risk of having a child with a genetic condition because of:

• • personal or family history of an inherited condition.
  • consanguinity (partners are related e.g. first cousins).
  • exposure to substances that increases the chances of a structural difference in baby.

Please note that Genetic Health QLD is only funded to see patients who:

• are residents of QLD
• have a valid/current Medicare card

Depending on the reason for referral and level of complexity, patients are allocated to see either a genetic counsellor, clinical geneticist, or sometimes both. If a referral is judged urgent (e.g. current pregnancy, or terminal illness) an appointment will be made with the patient as soon as possible. If appropriate, regional patients will be offered the option of having a telehealth appointment.

GHQ triages all referrals according to the reason for referral, location and clinical urgency of referral.  More information regarding referral eligibility (adult and paediatric) can be found using the Clinical Prioritisation Criteria (CPC) below for General Genetics and Cancer Genetics. These pages also provide information regarding Out-of-Scope Referrals.

Not all patients require assessment and counselling within a clinical genetics service. Many conditions are common, and can be managed by primary care providers or non-genetics specialists. Other conditions have specific referral criteria. Fact sheets for individual conditions are available below to help you decide if a referral to GHQ is appropriate.

How to refer

All referrals must be sent to the Metro North Central Patient Intake Unit (CPIU):

• via fax to 1300 364 952
• via GP Smart Referrals
• via Secure Web Transfer
• via emailed PDF to MNCPI_Referral@health.qld.gov.au (internal Queensland Health referrals only)

Please do not send referrals directly to clinicians or the GHQ email.

Please do not send referrals to regional/outreach locations (including QLD Children’s Hospital).

The referral must include all of the following:

• Full patient details including name, DOB, QLD address, telephone number
• Relevant clinical information about the patient’s condition for investigation, opinion, treatment and management
• Date of the referral
• Signature and provider number of the referring clinician

Additional useful information includes:

• Indication for urgency (current pregnancy, palliative patient, urgent management advice, ward consultation)
• Name and DOB of any relatives known to GHQ or who have had prior genetic testing relevant to the reason for referral
• Copies of relevant investigations (i.e. pathology, imaging, genetic testing)
• Copies of clinic letters detailing the patient’s diagnosis, clinical features, and investigations

A downloadable digitised GHQ referral form is available. (Please follow the below instructions to download the form)

Clinic-specific referral forms are available for breast cancer genetics, cardiac genetics and renal genetics.

Please note that faxed referrals, including supporting documentation, must be sent as a single fax and not as separate documents. Individual family members require separate named referrals and cannot be processed as a single document.