In a study involving 12,000 women, one in twenty people tested were found to be carriers of one of the three above mentioned conditions. But if you think that family history is an indicator, you’d be wrong: 88 per cent of carriers had no family history of the condition.

The government announced this year it would fund Mackenzie’s Mission with a view to making genetic carrier screening accessible to all prospective parents. Still many people don’t know that carrier screening is already available. To a large degree the low level of awareness is due to the fact that, until recently, doctors restricted these discussions to families where there was a family history of the condition.

New practice guidelines from the Royal Australian and New Zealand College of Obstetrics and Gynaecology (RANZCOG) released this year (2018) now recommend discussing the availability of genetic screening with all prospective parents.

While testing for conditions like Down syndrome and the more common inherited disorders such as SMA, Fragile X and Cystic Fibrosis are well established, the advances in genetic technology mean that it’s now easier to test for hundreds of less prevalent disorders, potentially creating a slippery slope where it’s difficult to draw the line on what constitutes a serious enough condition for investigation or intervention.

And with more screening comes the potential for greater economic and human resource costs to the health system.

Dr Melody Caramins, Chair of the Royal College of Pathologists of Australasia’s (RCPA) Genetics Advisory Committee, states it’s an issue that needs addressing as new genetic technology comes onboard:

“It’s an important question, which is why the RCPA is currently preparing an application for funding of basic carrier screening to be considered for inclusion on the Medicare Benefits Schedule.

“Obviously, the more information that can be provided to a parent about the risks of conditions developing, the more power they have to make decisions,” says Dr Caramins.

“Couples where both parents are carriers of cystic fibrosis or spinal muscular atrophy have a one in four chance of passing that condition onto a child.”

For those interested in being tested, the carrier screening test for cystic fibrosis, Fragile X syndrome and SMA is not covered by Medicare. It’s available through a number of pathology and testing providers and costs $345-400. In Australia, it is widely available in all states and territories.

Expanded preconception (or pre-pregnancy) screening sifts through a person’s genes to evaluate their carrier status for hundreds of conditions, by looking at DNA mutations and recessive genes, and is available through a number of Australian providers and can be valuable.

For example, the recessive brain condition, Tay-Sachs disease, was prevalent amongst Ashkenazi Jews but after screening was introduced in the 1970s, incidence of the condition dropped by 90%. In Mediterranean countries thalassaemia has been greatly reduced by pre-pregnancy screening.

But while screening can help identify risks, that doesn’t mean a baby will definitely manifest the condition. It should also be noted that some conditions can develop in the womb.

“It’s a lot of information to absorb and to consider,” says Dr Caramins “Patients thinking about availing themselves of the service are recommended to have genetic counselling.”

The post Navigating pregnancy and genetic tests first appeared on Know Pathology Know Healthcare.

Those were the words from Paediatric neurologist Dr Michelle Farrar last month in response to the announcement from Health Minister Greg Hunt that the government would be investing tens of millions of dollars into improving access to pre-natal genetic testing for prospective parents.

It is the single largest investment of the Medical Research Future Fund and has been dubbed “Mackenzie’s Mission” after Mackenzie Casella, who sadly past away last year, aged 7 months, due to spinal muscular atrophy (SMA).

Mackenzie’s parents, Rachael and Jonny, have been working tirelessly since the tragic death of their daughter to raise awareness for the genetic condition and to lobby for increased testing so that other parents don’t have to go through the same pain. They joined Minister Hunt for the announcement at the start of March. Jonny said;

“It means everything to us. We’ve been lobbying so hard for months to try and make a change in this country, and for Mackenzie’s life to be acknowledged in this way, I can’t even express how much it means.”

SMA is a rare, genetic condition whereby a loss of motor neurons causes muscle to waste away. This usually starts in the limbs but eventually the muscle loss affects the person’s ability to swallow or breathe. If both parents carry the SMA genetic mutation, there is a one in four chance that their child will develop the disorder.

The parents explained they had never heard of SMA before their daughter was diagnosed at ten weeks old. They certainly were not aware that there was a blood test available that would have told them they are both carriers of the SMA gene before Rachael became pregnant.

Currently expectant parents can pay $385 for a blood test to find out if they are carriers for SMA, cystic fibrosis and Fragile X syndrome. Approximately 1 in 20 Australians carry at least one of the gene mutations.

But the cost could be a barrier for some people and there is poor awareness that the test is an option, even amongst doctors. As well as going towards subsidizing the test for any prospective parents that wish to have it, the investment will also be used to increase awareness amongst the general population and healthcare professionals around genetic screening.

Rachael and Jonny hope that this will one day mean pre-pregnancy screening is routine for anyone in Australia wishing to have a child.

Further down the line funding will also go towards increasing testing for those going through IVF. Fertilized eggs can be tested for genetic markers before implantation, which as the Minister put it “is a far less traumatic process than discovering in utero.”

Finally, some of the money will be invested into research and improving access to treatment for those with existing genetic conditions.

Dr Melody Caramins, a Sydney based genetic pathologist welcomed the announcement from the Health Minister;

“Not everyone will want the test but it’s important that we arm expectant parents or those planning a pregnancy with the necessary information to make that decision. If people are not aware that a test exists, or if it is not easily accessible, we are wasting this incredibly valuable technology.”

The post Mackenzie’s Mission: improving access to genetic screening for prospective parents first appeared on Know Pathology Know Healthcare.