'The ultimate in preventative treatment': Push for genetic test funding

Genea IVF specialist Mark Bowman.

Genea IVF specialist Mark Bowman.

Genea IVF specialist Mark Bowman.

Genea IVF specialist Mark Bowman.

Sydney couple Quinta and Greg Turton were looking forward to the arrival of their second baby, a much wanted younger sibling to their son Finlay.

They were devastated to learn their daughter Poppy had cystic fibrosis, dying from the genetic condition only 26 days after her birth.

Finlay, now 10, was healthy and the couple from Chifley in Sydney's south had no idea they were carriers of the faulty gene and had a one in four chance of passing it on to their children.

"It was a heartbreaking, horrible time," Mrs Turton said.

The couple opted to have their embryos screened for cystic fibrosis using a procedure known as pre-implantation genetic diagnosis (PGD) and conceived a healthy baby Angus, now six.

Mrs Turton said the technology was a "huge relief" but also came at a high price as the procedure, which can add up to $6000 to an IVF cycle, is not funded by Medicare.

"The financial commitment was massive and added extra stress to what was already a very emotional time," she said.

On Friday, the federal government's leading medical advisor recommended public funding for PGD, which involves analysing embryos before implanting them into the mother.

After a decade of lobbying from IVF groups and families, the Medical Services Advisory Committee has recommended the federal government fund the procedure that can screen for hundreds of genetic abnormalities, including cystic fibrosis, Huntington's disease and Fragile X syndrome.

Mark Bowman, medical director of fertility specialist Genea, which has lobbied for the funding, said couples who know they are carriers of gene mutations face difficult emotional and financial hurdles.

"Often these couples are already managing babies with a disability and it's not fair to ask them to play Russian roulette with a spontaneous pregnancy and then perhaps face cost and heartache," he said.

"Setting the emotional aspect aside, we believe there is a strong economic case for the funding of PGD.

"If you take a child with a serious illness such as cystic fibrosis, they are facing ongoing treatment and perhaps a lung transplant in the future. PGD is the ultimate in preventative treatment."

Ethicists have argued that PGD is a form of "reproductive discrimination" that undermines the equality of people who have that genetic condition.

Genea chief executive Tomas Stojanov has hailed the recommendation as an important step in making PGD more accessible .

"We are thrilled MSAC has listened and urge the minister of health to respond," he said. "We want to continue to work with government to deliver an outcome. We will continue to do whatever we can to correct this inequity of access."

Counties including Britain, New Zealand, France and the Netherlands all provide some public subsidy for the procedure.

A spokesman for Health Minister Greg Hunt said the government will consider the advice of MSAC.

This story 'The ultimate in preventative treatment': Push for genetic test funding first appeared on The Sydney Morning Herald.