NB: Patients who have an uncertain diagnosis or a significant family history of a genetic condition will need a referral to see Dr Michael Gattas for a medical assessment at Brisbane Genetics. For all other patients, please read below.
Prenatal or pre-pregnancy appointment
This appointment is for couples and single patients interested in
gene testing to decrease their chance of having a child with a
serious health problem.
Approximately 1 in 300 couples will have a child with cystic
fibrosis, spinal muscular atrophy, fragile X syndrome or an
autosomal recessive disorder that could have been detected in
advance.
80% of these couples have NO family history of the condition. If
none of these problems have happened before in your family, this
does NOT mean that it could not happen to you.
Knowing you are a carrier allows you to have other options that
include testing in a pregnancy (called pre-natal diagnosis), or
using IVF and pre-implantation genetic diagnosis (PGD) to avoid
having a child with a serious medical problem.
Pre-pregnancy carrier testing is only needed once, and the
information will benefit this couple for every subsequent
pregnancy with the same partner.
Well adult appointment
This appointment is for healthy adults interested in a gene test
that may predict a future health problem.
The cost of gene testing some important genes such as BRCA1 and
BRCA2 is now a few hundred dollars. Even with no Medicare or
private insurance rebate, gene testing has become very affordable.
People who like to be pro-active with their health should see
their General Practitioner for advice, but GPs and other doctors
find it hard to keep up with the rapid progress in molecular
genetic testing. This is the service provided by a Genetic
Counsellor who can inform you and your doctor about these tests.