Australian First: New genetic testing set to improve access and outcomes for IVF patients

In an Australian first, Virtus Health comprising Melbourne IVF, Queensland Fertility Group and IVFAustralia has introduced karyomapping, a new genetic test that will significantly improve access to treatment and the chance of a live birth for couples wishing to avoid the transmission of a serious genetic disorder to their children.

Patients who know they are carriers of a genetic disease, for example cystic fibrosis, can have their embryos tested using karyomapping and preimplantation genetic diagnosis (PGD).

Dr Leeanda Wilton, Scientific Director Preimplantation Genetics at Virtus Health said that karyomapping is a significant advancement on current technology as we can now offer one highly effective PGD test with rapid turnaround for results, with all testing performed within our Australian lab.

“One of the benefits of karyomapping is that it removes the need for an individualised test to be developed for each couple, which not only makes the test more affordable but eliminates the need for months of laborious work, so that the patient’s IVF treatment can commence almost immediately,” Dr Wilton said.

“Another advantage of karyomapping over current technology is the ability to simultaneously detect many unrelated chromosomal errors that cause implantation failure and miscarriage, and we expect this will increase the live birth rate for patients accessing this treatment.”

Karyomapping is a single nucleotide polymorphism (SNP) test that examines the DNA of the couple and one or more family members to find a DNA fingerprint unique to the part of the chromosome that carries the altered gene which causes the disorder. It is then possible to test cells removed from embryos for this fingerprint, revealing those that have inherited the altered gene. If the fingerprint characteristic of the healthy gene is detected, then the embryo is free of the genetic disorder and suitable for transfer to the woman’s uterus.

Dr Sharyn Stock-Myer Head of Monogenic PGD, Preimplantation Genetics at Melbourne IVF said the Virtus Health PGD lab was one of the few laboratories worldwide to have early access to this technology prior to commercial release.

“Virtus Health was selected by the developers of this technology as the only PGD laboratory in Australia to refine and validate karyomapping before it became available to patients, and this is a credit to our Melbourne Preimplantation Genetics team that we are held in such high international esteem.

“More than 150 couples approach us each year seeking advice to help them conceive a child free of a known genetic condition. Many of these patients have already experienced years of heartache and even the loss of a child that was born with the disease that affects their family.

“With the introduction of karyomapping, we are really excited to be able to offer these patients fast access to affordable testing, and ultimately a better chance of being able to fulfil their desire to have a healthy baby.

“We feel it is really important to raise awareness of the advances in the field of genetic testing and we hope many couples will feel empowered to seek information knowing that there are improved options available.

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