From the day Jacinta Sirr-Williams discovered she was pregnant there was the usual run of doctors’ appointments, scans and blood tests – and, with them, came out-of-pocket costs.
- Non-invasive prenatal testing (NIPT), used to screen for three genetic conditions, is not subsidized by Medicare
- It costs about $ 500 and is a large out-of-pocket cost during pregnancy
- Both sides of politics are pledging to fund genetic screening but not included NIPT in their policies
But there was one test where she did not get a single cent back from Medicare. It’s called Non-Invasive Pre-natal Testing (NIPT) – or by one of its brand names, the Harmony test.
At $ 400 to $ 500, it’s one of the key out-of-pocket expenses faced by expectant parents.
“I did not realize the NIPT test was going to be $ 400. It was more than a surprise,” she said.
“That’s a barrier for a whole lot of people, especially when you’re buying baby things.”
NIPT is a blood test offered to many women about 10 weeks into their pregnancy.
It takes a sample of the mother’s blood, which contains fragments of DNA from the baby’s placenta, to detect three genetic conditions, including Down syndrome.
Many parents also use the test to find out the gender of their baby.
The ABC has previously reported controversies around this test because parents can feel pressured to terminate pregnancies if results suggest a baby may have a high risk of one of three genetic conditions.
It’s a screening test, which means if it comes back positive, parents are urged to have further diagnostic testing under a riskier procedure that extracts cells from the placenta or amniotic fluid via CVS (chorionic villus sampling) or amniocentesis, to confirm the results.
For Jacinta, having the test wasn’t necessarily about having a choice on whether to proceed with a pregnancy or not, but rather having information going forward.
“If something is not right, you have the opportunity to set up your home and talk to specialists before your baby gets here,” she said.
“It means you can reach out to different groups, have the knowledge before it happens, and be able to process it and go to a counsellor.”
Genetic screening an election issue
In the lead-up to the election, both major parties have promised to fund more genetic testing before parents get pregnant and after babies are born, but neither side has addressed NIPT.
Labor has committed $ 38.4 million to expand the number of genetic conditions that babies are given a heel-prick test for after birth from 25 to 80.
The Coalition has committed $ 81 million for new Medicare items to make it free for couples planning to get pregnant to test whether they are carriers for cystic fibrosis, spinal muscular atrophy or fragile X syndrome.
In 2018, the College of Pathologists of Australasia and Roche Diagnostics applied to the federal government to have NIPT subsidized by Medicare, and failed.
For Jacinta, the test was important after having bowel cancer at age 30 and discovering she had Lynch syndrome, a genetic condition predisposing people to bowel and other cancers.
NIPT does not include detection of propensity for Lynch syndrome, but her experience made her understand the importance of genetic testing.
“[NIPT]for us, was a no-brainer just to go that extra step – for us, knowledge is power, “she said.
Jacinta’s cancer was caught and treated early. Her NIPT was clear and baby Anna was born in April.
Why is NIPT important?
Royal Australian and New Zealand College of Obstetricians and Gynecologists president Benjamin Bopp said, controversies aside, NIPT was helpful to specialists.
If tests confirmed that a baby was at high risk of a genetic condition, the baby and mother may have extra needs, he said, and that would change the way the specialists handled the mother’s care.
“If parents decide to proceed, doctors can monitor for a range of potential complications for the baby,” he said.
“Heart defects and reduced growth of the foetus, for example, may be associated with some of the genetic conditions screened for.
“Some of the genetic conditions also affect maternal health. Some are associated with an increased risk for mother of pregnancy complications such as pre-eclampsia, which could be monitored for more closely.
“Parents have more time and opportunity to arrange genetic and other expert counseling.
“Some parents might decide to proceed with the pregnancy but not take heroic measures [such as resuscitation] if the baby has a condition not compatible with life after birth. “
If parents elected for a termination, the test enabled that to take place earlier in the pregnancy.
“An earlier decision reduces the complexity and risks of termination,” Dr Bopp said.
Down Syndrome Australia chief executive Ellen Skladzien said the organization would like to see more funding for women to receive better quality information and support before and after screening, before any test was subsidized.
“Families of children with Down syndrome have told us many stories about not receiving the right supports during pregnancy,” Dr Skladzien said.
“It is unethical to implement a screening test in any population without providing the appropriate referrals and supports, including up-to-date and accurate information.”
Test only offered to some women, wealthy families
Dr Bopp said that, anecdotally, the test at present was only being offered to some groups of women because of its high price, usually to those using the private hospital system.
He said that, typically, doctors would only offer it to women they deemed able to afford it, or in a high-risk group, such as older mothers.
Figures show that, in Victoria, since NIPT became widely available, about one in three women have elected to have the test and pay the $ 500 price tag themselves.
In its 2018 review on whether to fund the NIPT, the federal Medical Services Advisory Committee noted that a genetic counselor informed them that many women missed out on NIPT because their doctor or midwife did not mention it to them.
Further, the committee heard from clinicians that “women often ask if they can pay for NIPT on a payment plan”.
Government says numbers do not add up
Complicating matters is that Medicare does subsidize an ultrasound at 13 weeks – called the nuchal translucency scan – which looks at a number of markers that overlap with the NIPT.
“The nuchal translucency scan looks at many other important things like pregnancy viability, the number and gestation [age] of the foetus and early structural assessment, “Dr Bopp said.
This is a similar screening test that looks for Down syndrome, based on the thickness of the baby’s neck. If it is positive, women can proceed to have a test on their amniotic fluid or on the baby’s placenta.
While the scan could detect common genetic conditions, it was with “lower sensitivity and specificity” according to its own review.
“The DNA in the NIPT gives a more-accurate result for some chromosomal problems, but does not look at the baby, its heartbeat, structure and so on,” Dr Bopp said.
He also said the NIPT would be much simpler for those in regional and remote areas, rather than having to find a specialist maternal scanning clinic.
In its 2018 decision, the federal medical services Advisory Committee did not support subsidizing NIPT on “cost-effectiveness grounds”.
It found that funding the tests would cost the government an extra $ 100 million a year and only detect 195 extra cases of the three genetic conditions in the test, out of 1,080 cases that occurred annually.
“Due to the effectiveness of the existing prenatal testing options, the desirable consequences of augmenting this with the proposed testing, including for improved decision-making by patients and their care-givers, were too small,” the committee found.
This was despite finding that funding the test would lead to less people needing expensive amniocentesis or CVS tests, because a negative NIPT would rule out conditions early on.
For Jacinta, any help with the antenatal costs would help her start off parenthood in front.
“I think it is just about looking after families and giving families information about what their families will look like in the future and that knowledge is powerful. It changes lives,” she said.