Why was I referred?

The main reasons why people are referred to a genetics clinic are to:

• Diagnose a condition

• Confirm or explain a diagnosis

• Discuss the implications of a family history of a genetic condition

• Discuss diagnostic or pre-symptomatic tests for a genetic condition

• Discuss risks and reproduction options including prenatal diagnosis and pre-implantation genetic testing (PGT)

• Discuss the implications of a personal / family history of cancer

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What happens when you get my referral?

Appointments are arranged for you after a referral from your GP or specialist. Your referral will be triaged to see either a clinical geneticist or a genetic counsellor depending on the nature of the problem in the family.

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If your referral meets our criteria for an appointment you will be added to the waiting list for your area. As we may not be visiting your area for some time, you have the option to be seen in one of the main centres (Auckland, Wellington, Christchurch) if you wish to be seen sooner and are willing to travel.

 

Some referrals will be managed with a written response rather than an appointment.

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Do I need to do anything in preparation?

It is helpful to find out some information about close relatives (illnesses, cause and age of death etc.) before meeting with a genetic service as you will usually be asked about this at your appointment. If you are sent a family history questionnaire please complete this as best you can and return before your appointment.

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If you have been referred to us about a family history of cancer please refer to the cancer page.

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You may want to write down and bring along any questions you and your family may have.

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Who will I see?

You will either meet with a Clinical Geneticist or a Genetic Counsellor depending on the reason for referral.  A Clinical Geneticist is a medical doctor with specialist training in genetics. A Genetic Counsellor is a health professional with specialist training in genetics. Genetic Counsellors and genetic associates have undergone the same training.

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What will happen in my appointment?

Most genetics appointments last between 45 minutes and an hour. You will be encouraged to ask questions. Please feel welcome to bring relatives/whānau or friends with you to the appointment.

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Your appointment may follow this general format:

• We will ask you about your main concerns and questions, and try to answer these in the course of the consultation.

• You will be asked for details of your family's medical history and a family tree (whakapapa) will be drawn with your permission. The family history questionnaire helps us to do this.

• The clinical geneticist may find it helpful to examine you or your child.

• Sometimes we need to gather more information or arrange investigations, for example, we may need to view the hospital notes of any affected relatives, with their permission.

• Based on this information, a diagnosis of a genetic disorder may be made or confirmed.

• We will discuss the next steps, which may include having further genetic or other diagnostic tests.

• We will discuss the inheritance and implications of the condition for you and your family/whānau.

• We can suggest sources of further information and/or support.

 

What is included will be dependent on whether you are seeing a Clinical Geneticist or a Genetic Counsellor.

It is helpful if you can bring:

• Your family history questionnaire if we have sent this to you to complete before your appointment. It is most helpful to us if you can return this before your appointment, but if this is not possible, please bring it with you.

• Any medical records or family trees if you are able to bring them.

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If publicly funded genetic testing is appropriate for you/ your relatives, it may be possible to take blood for testing on the same day as your appointment. In certain circumstances, we may ask you to further consider whether or not you would like to have a genetic test, perhaps encourage you to include your family in your decision-making.

 

At the end of the appointment we will agree on a plan for follow-up for you and your family, and decide whether or not you need another appointment. We will write a summary letter to you and your doctor about what we have discussed.

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Cancer 

What are the referral guidelines?

As we are a public health service we are not able to see everyone who is referred and therefore we have referral guidelines to assess whether a referral is accepted or decline. These guidelines are determined by eviQ.

 

Some of the features may indicate the presences of an inherited susceptibility to cancer include:

• Several close relatives on the same side of the family with the same type of cancer.

• More than one primary cancer in the same person.

• Young age at cancer diagnosis (e.g. breast cancer under 40 years, colon cancer under 50 years).

• 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).

• Individual with Jewish ancestry and a family history of cancer

 

Consent forms & Family History Questionnaire

Consent forms are used to gain consent from affect relatives with cancer or their next of kin to confirm the cancer diagnoses in the family. We ask for you to please pass these out and ask the appropriate relatives to fill them in to the best of their knowledge, and then return them to the genetic service.

 

If your family members are overseas we would recommend they fill out a consent form. Alternatively, you could try to obtain clinical letters and/or histology reports from your relatives.

 

Confirmations of diagnoses are important to our risk assessment and can alter any advice or recommendations we give to you.

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Family History Questionnaire (No longer typically used as first line of assessment)

Consent to release information (Cancer)

Consent to release information (General)

Consent for genetic testing/DNA storage form

  

What should I expect following a risk assessment?

After a risk assessment you will either receive notification an appointment to discuss genetic testing options, or if testing is not indicated, we will write back with advice.

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