Information for Patients
Why was I referred?
The main reasons why people are referred to a genetics clinic are:
- To diagnose a condition
- To confirm or explain a diagnosis
- To discuss diagnostic, pre-natal or pre-symptomatic tests for a genetic condition, and reproductive options including pre-implantation genetic diagnosis (PGD)
- To discuss the implications of a family history of a genetic condition
- To discuss the implications of a family history of cancer.
What happens when we receive your referral?
Appointments are arranged for you after referral from your GP or specialist. You will be triaged to see either a clinical geneticist or a genetic associate depending on the nature of the problem in the family.
You may be seen quite quickly, or you may have to wait some months, depending on waiting lists and urgency at the time of your referral. If you do not live in one of the main centres, then we will see you in the next available clinic in your area. As we may not be visiting your area for several weeks, 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.
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. A family history questionnaire will be sent to you to complete and return before your appointment.
Who will I see?
If you are visiting a Genetic Health Service NZ clinic for the purposes of having a genetic condition diagnosed, you will see a clinical geneticist. Clinical geneticists are doctors with specialist training in medical genetics.
If you have a known genetic condition, you will more likely see a genetic associate (who is usually a science graduate with post graduate qualifications in medical genetics and genetic counselling).
Your 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.
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 geneticist or a genetic associate.
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.
Sometimes we offer to take blood for testing on the same day as your appointment or we may ask you to further consider whether or not you want a genetic test, perhaps involving 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.
Records and confidentiality
Your personal details
Please be aware that we will keep some of your details and details on your family/whānau on a computer database. If you have any concerns about this please let us know.
Confidentiality
The details that you give us will be treated in strict confidence, even within your family.