Following the announcement by the Medicines Services Advisory Committee (MSAC) in 2022, people who are planning to start a family will now have expanded access to genetic carrier screening, which began in November 2023.

This testing provides people with crucial information that can significantly impact their reproductive choices.

The three conditions covered by the expanded testing are cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome. Approximately 1 in 20 people are carriers of one or more of these conditions¹. While varying in severity, these conditions, are all associated with significant health challenges, making early identification vital for making informed reproductive choices.

Genetic carrier screening is a powerful tool for identifying individuals at risk of carrying genetic changes associated with inherited conditions.

Pathology Awareness Australia (PAA) ambassador and genetic pathologist, Dr Melanie Galea, emphasises the importance of this testing:

“The three gene carrier screen enables individuals and couples to assess their risk of three common inherited conditions occurring in their children.”

“These three conditions have been chosen because of the severity of the clinical phenotypes and because they are common within the population.”

• Cystic fibrosis: Disorder that affects the lungs, pancreas, and other organs. Symptoms include frequent lung infections, malabsorption and shortened lifespan.
• Spinal muscular atrophy (SMA): Affects the nervous system and causes muscle weakness and atrophy. SMA is the leading genetic cause of infant mortality.
• Fragile X syndrome (FXS): Causes intellectual disability, behavioural and learning challenges. FXS is the most common inherited cause of intellectual disability.

Genetic carrier screening can help identify carriers of the genetic changes that result in these conditions. The expansion will significantly enhance the accessibility of these tests, potentially saving many families from the heartache of unknowingly passing on a serious genetic condition to their children.

Upon receiving results that identify them as carriers of a genetic condition, individuals and couples will have a range of options to consider, Dr Galea emphasised:

“We would recommend genetic counselling for at-risk patients identified by this screening to discuss the results, their implications and the reproductive options that are available. These options may include access to preimplantation genetic diagnosis through IVF, the use of donor gametes, prenatal diagnostic testing during pregnancy, and accepting the risk.”

In October 2017, a heartbreaking story came to light when Mackenzie Casella lost her battle with spinal muscular atrophy (SMA) at just seven months old. Her parents embarked on a quest called Mackenzie’s Mission². Their goal was clear: to make genetic carrier screening a standard and cost-free service for all Australian families preparing for parenthood. Their tireless efforts have been a driving force behind this funding allocation for expanded genetic carrier screening in Australia.

Dr Galea further added, “Reproductive carrier screening has become a mainstream test and has been available for several years in clinical laboratories across the country. The introduction of these rebates will make this testing more accessible to help inform reproductive decision making.”

The reproductive carrier screen test (CF, SMA and FXS) will be reimbursed under the Medicare Benefits Schedule starting November 2023³.

Quotes attributable to The Hon Mark Butler MP, Minister for Health and Aged Care:

“These new Medicare rebates for cutting-edge genetic testing will strengthen Medicare and make healthcare more affordable and available.” “The new Medicare rebate for reproductive carrier testing will provide confidence to women and their partners as they plan a pregnancy and start a family.”

References

1. https://www1.racgp.org.au/newsgp/clinical/three-condition-genetic-carrier-screening-to-becom
2. https://www.mackenziesmission.org.au/what-is-mackenzies-mission/ 
3. https://www.rcpa.edu.au/getattachment/2c1af2e1-b936-4948-bbbb-e1239c557cd4/Reproductive-screening-for-fragile-X-syndrome,-(1).aspx 

Image credit: Garrett Jackson on Unsplash

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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.”

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The amniotic sac is where the baby grows inside the mother’s uterus. A membrane surrounds the baby which is enveloped in amniotic fluid that protects the baby and aids development until it is born.

A rupture of the membrane that contains the amniotic fluid surrounding a foetus can present a risk for mother and baby.

When a pregnant woman experiences her “waters breaking” it is the amniotic sac that is rupturing and the fluid draining out, this should happen close to labour when the baby is ready to be born, which is why a break in the sac earlier in pregnancy can be a problem.

As well as being a risk factor for premature birth, any opening in the amniotic sac membrane provides a potential route for infection-causing bacteria to enter. An infection is risky for mother and baby and can also cause premature birth.

One early warning sign of possible rupture of the amniotic sac membrane is leakage of amniotic fluid from the vagina.

It can be difficult for a woman to tell if she is experiencing leakage because fluid may come from another source. Urinary incontinence is common during pregnancy and fluid may also be present as a normal vaginal discharge or because of an infection.

To give women access to a simple test for detecting amniotic fluid leakage, specially designed pantyliners have been developed.

They work by testing the pH level of any fluid that comes into contact with the pantyliner. The pH level of amniotic fluid is usually around 6.5-7.5 which is higher than normal vaginal pH and the liner will change colour when a higher pH is detected.

Some designs even detect ammonia in addition to pH levels to help differentiate between urine and amniotic fluid.

Women using the test are advised to remove the pantyliner once the suspected leakage has occurred and allow 10 minutes drying time. If a blue or green area is visible after the drying time this indicates amniotic fluid and women are advised to contact their doctor for further investigation.

The advantages are that this is a non-invasive home test, it can be worn for 12 hours meaning that a woman who is concerned and wants to check her vaginal fluid can monitor herself over the course of the day or night. This helps in detecting small or slow leakages that may be significant but otherwise hard to spot.

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Amniocentesis extracts fluid from the sac which surrounds the foetus inside the mother’s womb. The procedure uses a thin needle which is inserted through the mother’s skin; a local anaesthetic is usually administered to prevent pain to the mother.

Along with being invasive and possibly uncomfortable for women, the amniocentesis procedure does carry some risks. Although it is widely considered very safe and it is rare for any problems to occur, there are slight risks of infection, Rh sensitisation or spontaneous abortion. NIPT does not carry the same risks.

The benefit of this testing means parents can find out if their baby has a chromosomal condition such as Down Syndrome. This advance knowledge can help parents to prepare for their baby’s birth by being better informed about a condition and knowing how to plan for the baby’s future. This knowledge is also useful for medical practitioners in case of complications during pregnancy, birth and early infancy.

Using NIPT instead of amniocentesis is not only easier and safer for the patient but is also more cost effective. As around 5% of women will have some abnormality in their 10 week screening, using NIPT as the next step instead of amniocentesis will save money as the test is cheaper to conduct than amniocentesis – where the procedure itself can take up to 90 minutes.

The NIPT test is somewhat complex and requires a high level of expertise both in the testing process and in interpreting the results. This highlights the importance of having highly trained scientists and pathologists in laboratories to ensure that doctors are given accurate results. It is also important to have specialist input on whether the test should be done following the results from a woman’s 10 week screen.

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