Referral to emergency

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

  • nil

Regardless of age, for urgent referrals and/or clinical advice related to cancer predisposition, please telephone the Adults Genetics Unit (including familial cancer) and ask to speak to the on-call geneticist and or duty genetic counsellor.

Adults Genetics Unit

Adult Genetics Unit (including familial cancer) within Central Adelaide Local Health Network:

Inclusions

  • individuals with a cancer diagnosis in whom a germline genetic test it has identified a pathogenic or likely pathogenic variant in a cancer predisposition gene
  • individuals with a cancer diagnosis in whom a germline genetic test has identified a variant of uncertain significance (VUS) in a cancer predisposition gene
  • individual with a cancer diagnosis in whom a germline genetic test performed outside of a clinical genetics service has not identified a relevant gene variant, but a clinical suspicion of a cancer predisposition syndrome remains
  • individuals with a cancer diagnosis in whom somatic (tumour) genetic testing has identified a pathogenic or likely pathogenic variant in a clinically actionable cancer predisposition gene and the variant is suspected to be germline in origin

Exclusions

  • individuals who have not had a cancer referred solely for a family history of cancer
  • individuals who have undergone germline genetic testing using a direct-to-consumer platform not designed to detect genetic cancer predispositions e.g. ancestry testing
  • individuals referred for genetic counselling regarding an identified variant in a gene of low or unknown clinical utility
  • individuals with a haematological cancer in whom genetic testing in blood or bone marrow has identified a pathogenic or likely pathogenic variant - refer to either Haematological Neoplasia/Cancer Genetics - Adult CPC or Haematological Neoplasia/Cancer Genetics — Paediatric CPC
  • individuals with a cancer diagnosis in whom somatic (tumour) genetic testing has identified a pathogenic or likely pathogenic variant in a gene where germline pathogenic variants are associated with a rare syndromic phenotype or (risk of) a non-cancer condition, unless the patient has clinical features of that condition – consider referral to Genetics
  • individuals with a cancer diagnosis in whom somatic (tumour) genetic testing has identified a complex tumour molecular phenotype such as a mutation signatures, homologous repair deficiency or tumour mutational burden, except microsatellite instability
  • individuals who have not had a cancer themselves, but a specific causal gene variant HAS been identified in the family - refer to Predictive Genetic Testing for Cancer - Adult and Paediatric CPC

Triage categories

Category 1 (appointment clinically indicated within 30 days)

  • distant metastatic disease with a short predicted life expectancy, contact will usually be made within 7 days
  • results of genetic testing, if offered, will influence local or systemic treatment decisions
  • personal and or family history of cancer with high suspicion of a cancer predisposition and the patient and or their partner is pregnant and review/genetic testing will impact investigation and management in pregnancy. Contact will generally be made within 7 days, usually 2 to 3 days

Category 2 (appointment clinically indicated within 90 days)

  • personal and/or any family history of a genetic cancer predisposition, where a specific causative gene variant has been identified on a genetic test
  • personal history of cancer and is currently on, or about to go onto a palliative care pathway. contact will usually be made within 7 days
  • referral recommended after review of a relative
  • tumour testing has identified a potential germline mutation in a genetic cancer predisposition gene

Category 3 (appointment clinically indicated within 365 days)

  • all other referrals meeting inclusion criteria for the relevant cancer/tumour

For information on referral forms and how to import them, please view general referral information.

Essential referral information

Completion required before first appointment to ensure patients are ready for care. Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.

  • identifies as Aboriginal and/or Torres Strait Islander
  • for adult patients,  relevant social history, including identifying if you feel your patient is from a vulnerable population and/or requires a third party to receive correspondence on their behalf
  • for paediatric patients, identify within your referral if you feel your patient is from a vulnerable population, under guardianship/out-of-home care arrangements and/or requires a third party to receive correspondence on their behalf
  • interpreter required
  • as much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency. Has the referral been prompted by a pregnancy or imminently planned pregnancy? Will a genetic test result inform local or systemic treatment decisions?
    • planned time frame of chemotherapy, radiotherapy, or surgery to indicate when genetic test results are required, if offered
    • cancer/tumour diagnosis, age at diagnosis and other clinical features
    • details of prognosis in patients with metastatic disease
    • details and results of genetic testing if performed, including a copy of the genetic test result
    • relevant histopathology reports and/or imaging results
  • presence or absence of relevant family history with names of affected relatives

Additional information to assist triage categorisation

  • known details of relevant family history (first and second-degree blood relatives) including:
    • date of birth
    • previous names/surnames
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
  • if the family is known to a Clinical Genetics service in South Australia, if possible, please provide the genetics file number and names of relative/s seen
  • if the family are known to another genetic service, the name of the service, and family reference number, if available

Clinical management advice

The Adult Genetics Unit (AGU) provides services through a network of clinics at the Queen Elizabeth Hospital, Royal Adelaide Hospital, Flinders Medical Centre, the Lyell McEwin Hospital, Women’s and Children’s Hospital and telehealth. All referrals should be addressed to the AGU.

The offer of an appointment by clinical genetics does not guarantee that a publicly funded genetic test will be offered.

If the patient has a limited life expectancy, arrange collection of 2 x 4ml of blood in ethylenediamine tetraacetic acid (EDTA); the request form should ask for “deoxyribonucleic acid (DNA) storage” and include a brief note giving the personal and family history. Send to Molecular Pathology, SA Pathology at Frome Road, Adelaide, 5000.

Patients may be asked to provide detailed written family information using electronic correspondence, or paper-based correspondence. This may be followed by a telephone consultation with a genetic counsellor or allied health assistant prior to the appointment.

Consent forms may be provided for relatives allowing permission to access information about their health.

Clinical resources

Consumer resources