FAQ

What is a clinical geneticist?
A clinical geneticist is a medical specialist with training and expertise in the diagnosis of genetic disorders, DNA testing in individuals and families and the practical application of genetic information such as reproductive genetics.

How long will it take to get an appointment to see the specialist?
All clients can be seen within a few weeks of the initial contact, often within a week.

What will the secretary ask?
You will be asked the nature of the consultation. All information is treated with the same respect, privacy and courtesy as you would expect from your doctor.

What is discussed at a genetics consultation?
Typically most initial consultations take 45 minutes-1 hour.

The information gathered and discussed includes the family history, comprehensive medical and reproductive history of the individual or couple and relevant clinical examination.

It may be necessary to confirm a clinical, pathological or genetic diagnosis from the medical records of an individual or within the family. This will require written consent. Privacy and autonomy are core principles that are upheld. No information is requested or disclosed without prior written consent. It can be helpful for clients to obtain relevant information prior to a consultation such as medical reports and a copy of test results.

The options, costs, implications, potential benefits and pitfalls of genetic testing will be discussed. A comprehensive clinical genetic assessment can then be used to guide the client on the health implications, risks and likelihoods and recommended surveillance and health monitoring arising from a genetic diagnosis.  It may allow testing of family members at risk of inheriting a genetic disorder or genetic predisposition.

Is pre-implantation genetic diagnosis an option for me? What is PGD?
For a individual or couple considering PGD, a detailed overview will be given at the consultation, where they have the chance to ask questions on any aspect of PGD. This can assist in determining whether PGD is an option and help them take the first step of the journey.
 
Do I receive a report?
All clients presenting to PCG receive a detailed summary of their consultation, including options relevant to their specific case.

Copies of the report can be sent to health professionals nominated by you.

What is the out-of-pocket cost of consultation?
The cost of consultation after the Medicare rebate is ~$130

What are the main misconceptions about PGD?

The most common misconceptions about PGD are:

1/ That it involves manipulation of the genetic make-up of an embryo.

This is not true: PGD merely uses the genetic status of an embryo to
determine suitability for the embryo transfer. The DNA code of the embryo is not altered. Analogous to taking a blood test for DNA testing, embryo biopsy and pre-implantation genetic testing,
provides information about the genetic status of the embryo that does not alter the genetic make-up. The information forms the basis to make an informed choice about embryo transfer.


2/ That PGD creates ‘designer babies’, where couples can select the
physical traits they wish their child to have.

PGD is used to assess if an embryo has inherited a genetic
disorder, /not/ to choose aesthetic attributes.

3/ That it poses a high risk to the child or mother’s health

The question about the safety of IVF and PGD, for mother and child, is an important one.

The overwhelming majority of babies born following IVF and PGD are healthy and well, without adverse impact on the mother’s health.

IVF is a medical procedure that can affect a woman's health. The individual risks and benefits are discussed by the treating doctor in the care of every woman considering IVF.

For a child born to any couple, there is the chance that they may have health problems early in life, such as might arise from a birth defect or a genetic disorder.  In Australia, as it is worldwide, data is continually collected on the health of babies born following IVF and PGD to learn if there are specific concerns for the health of the child. Putting such information into perspective with the family, genetic and infertility history for a couple is critical in achieving a balanced appraisal.


4/ That PGD is not readily accessible or affordable.

Obtaining advice at the outset is as simple as arranging an appointment at Primary Care Genetics.

Primary care genetics offers comprehensive consultation for persons or couples considering PGD. Most couples are seen within a few weeks. Primary Care genetics has direct knowledge of all aspects of PGD, ranging from the genetic advice, genetic testing that might be the first step in accessing PGD, to information on cost and success rates of PGD programs.

Understanding the costs of PGD is important. Putting a price on the health of a child is not something anyone would choose to do.  Australian citizens and permanent residents are entitled to a medicare-rebate for the majority of the IVF-PGD costs. There are out-of pocket costs for components of the IVF-PGD treatment. The cost of PGD, which is low in comparison with overseas PGD providers, is comparable with any specialist medical service.