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Hope for families as MSAC delivers

PGD embryo under the microscope On Friday 4 August, after a decade of lobbying and in response to a Genea submission, the Medical Services Advisory Committee (MSAC) formally recommended the Federal Government provide funding for pre-implantation genetic diagnosis (PGD).

Genea is thrilled with the result, funding would financially support parents who carry a genetic disorder to screen their embryos during an IVF cycle, ensuring they don't pass on a disease or potentially life threatening condition to their children. 

"Genea has pioneered PGD, our expertise and techniques are amongst the best in the world. Many clinics have followed our lead and modelled their approach to embryo biopsy on ours," Dr Stojanov, Genea CEO said.

To learn more about PGD at Genea, we developed some frequently asked questions on the topic of PGD.

What is PGD?

PGD is a well-established medical procedure used during the in vitro fertilisation (IVF) process to detect whether an embryo created in vitro has a specific genetic defect. PGD is used by couples who know they carry a serious genetic disorder, in the hope of having a child free of the disease.

How do scientists conduct PGD?

Genea uses two methods to conduct PGD - Karyomapping and Polymerase Chain Reaction (PCR) linkage techniques.

Karyomapping is an off the shelf solution that can be applied to the majority of patients in 2-4 weeks and PCR allows a unique test to be developed for couples who require a more specialised test approach. PCR linkage takes 10-12 weeks to develop.

Both methods require a genetic work up which involves a blood sample from each partner and additional samples from other family members. This work up process ultimately enables scientists to identify all the affected and non-affected DNA patterns in the patient’s embryos.

PGD involves the microscopic removal of a few cells from an embryo created through the IVF process so DNA can be tested. This is similar to prenatal genetic tests, but at an earlier stage of the embryo development. An embryo free of the disorder is then transferred to the woman as part of the normal IVF process or frozen for future use.

At what stage of embryo development are PGD tests conducted?

Embryos develop in the laboratory for five days until they reach what is called the blastocyst stage, before a biopsy is performed to remove a small number of cells for PGD screening.

What disorders can PGD detect?

At Genea, we have experience with more than 230 genetic diseases as part of our PGD program so far. These are conditions which are often disabling, have no prevention, cure or proven treatments, beyond symptomatic care. For example:
  • Duchenne muscular dystrophy: Degenerative disease resulting in the loss of the ability to walk by age 10 years, followed by cardiovascular and pulmonary complications. Death by early thirties.
  • Huntington disease: Degenerative late onset neurological condition. Premature death.
  • Leigh’s disease: A rare neurometabolic disorder affecting the central nervous system. Death normally by 7 years, though some patients have survived till their mid-teens.
  • Cystic fibrosis: Cystic Fibrosis is the most common life threatening genetic condition in Australia. CF affects many of the body's systems, including lungs and digestion. It is the single gene disorder most commonly screened for at Genea

How long has Genea offered PGD testing?

Genea first launched chromosome testing of embryos in 1995 and expanded this to single gene testing in 1998. Our techniques have developed and expanded since we first conducted genetic testing; many clinics have followed our lead and modelled their approach to biopsy on ours, such that it is now the new gold standard. 

Disclaimer: Please note that this is a Genea Group blog and as such information may not be relevant for all clinics. We advise that you consult clinics directly for further information.