How the process works

All referrals should be made to the geographically appropriate hub through e-mail, fax or local referral systems.

Referrals are triaged by each hub.

Referrals will be given an urgent, semi-urgent, or routine waiting list allocation and should be seen in next available appointment, within 2 weeks, 2-3 months and and 4-6 months respectively.

Phone advice is available if a clinician wants to discuss a case before considering making a referral to the service.

Scenarios that may be manageable without genetics referral

  • Cystic fibrosis screening when there is a family history of CF in a family
  • Alpha-1 Antitrypsin testing 

  • Haemochromatosis HFE testing

  • Thalassaemia testing 

  • Hyperlipidemia testing  

  • Carrier testing for a common recessive condition in a family

  • Initial assessment of Marfan syndrome 

Most other genetic tests will require a genetics or subspecialist review.

We encourage subspecialists to discuss nonroutine genetic testing with their local genetics service to ensure the most clinically relevant, and cost-effective testing strategy is used.


What happens once a referral has been accepted or declined?

For any referrals that are declined or require further information, referrers will be sent a letter detailing the reasons for this decision.

For any accepted referrals, patients may receive a family history questionnaire and/or consent forms prior to their appointment.

What should patients expect at an appointment?

Patients will usually have a 30 to 60 minutes appointment with either a clinical geneticist or genetic counsellor, either in person or by telehealth depending on the assessment required.

What should a health professional expect after the appointment?

A clinic letter will be sent out to the patient following their appointment; this letter will be copied to the referrer and other appropriate parties.

Additional correspondence will be sent to the appropriate clinicians as necessary.

If necessary, follow up appointments will be organised.

Will all patients receive an appointment?

Not all patients whose referral is accepted will receive an appointment with the genetic service. To provide advice in an appropriate time frame some patients and health professional will receive a letter from the genetic service outlining our recommendations for the individual and their family.

Genetic testing

We strongly encourage your subspecialists to discuss non-routine testing with their local genetics service to ensure the most clinically relevant, and cost-effective, testing strategy is used.

Tests for the following conditions can be ordered by GPs:

  • Karyotype

  • Cystic fibrosis common mutation screen

  • Alpha-1 Antitrypsin

  • Haemochromatosis HFE testing

  • Thalassaemia molecular testing

  • Factor V Leiden

Most other genetic tests will require a genetics or subspecialist review.

Consent for DNA storage/Genetic testing

Cancer referrals

A referral to the GHSNZ for hereditary cancer assessment is appropriate when:

  • A cancer gene mutation has been found in a blood relative (e.g BRCA1/2, MLH1, MSH2, MSH6, PMS2, APC, CDH1, VHL, or other)

  • There are several close relatives on the same side of the family with the same type of cancer

  • An individual has more than one primary cancer

  • An individual is young  at cancer diagnosis (e.g. breast cancer under 40 years)

  • There are a cluster of cancers that are known to be associated with certain genes (e.g. breast and ovarian cancer and the BRCA1 and BRCA2 genes; colorectal and uterine cancer with Lynch syndrome genes) and/or a family history of rare tumours

  • An individual has Jewish ancestry with a family history of cancer.


Individuals with a strong family history of colorectal cancer or a personal diagnosis under 50 years should be referred to the New Zealand Familial Gastrointestinal Cancer Service.

Possible reasons for an appointment

  • Discussion of the implications of a family history of a familial cancer

  • Pre-symptomatic/predictive genetic testing may be offered if a mutation has been identified in the family

  • Mutation detection genetic testing is offered to patients who meet our eligibility criteria following a clinical review.