Monash study finds cost a barrier to struggling families being offered prenatal test

Struggling families are missing out on a blood test proven to safely screen for common genetic conditions early in pregnancy because of the cost.

An accurate and simple blood test proven to safely screen for common genetic conditions early in pregnancy is not being offered to all Australian families because of the cost.

New research by Monash University found the fee of up to $500 for non-invasive prenatal testing (NIPT) was a financial barrier for many already doing it tough.

The test is not subsidised by Medicare or covered through public screening programs in Australia, despite ongoing calls for it to be offered for free.

Experts say NIPT can screen for many conditions, including Down, Turner, Klinefelter and Triple X syndromes, as well as others such as Edwards and Patau syndromes, which are known to cause severe birth defects.

One of Australia's top young researchers, Monash’s Dr Molly Johnston, says the team found one of the great barriers to the NIPT was cost. Picture: Mark Stewart

Lead researcher Dr Molly Johnston from the Monash Bioethics Centre said understanding these disparities in care was crucial in improving prenatal services in Australia.

In a first, the Monash team surveyed hundreds of healthcare professionals, including obstetricians, GPs, midwives and genetic specialists to ask about their experience with the test.

The results were published in the journal BMC Pregnancy and Childbirth and found that after a decade of clinical use, Australian clinicians still experienced challenges in the clinical and equitable provision of NIPT.

The team found the greatest barriers were cost, patient awareness and health professionals who did not offer it to all patients because of the high out-of-pocket fees.

“We did this research because we wanted to assess how the test has been integrated into antenatal health care in Australia,” Dr Johnston said. “This tells us about the care that is provided to pregnant patients and how it might be improved.”

She said it can be offered at 10 weeks, was non-invasive and could screen for more conditions than its counterpart test, combined first trimester screening.

The NIPT can be given at 10 weeks, is non-invasive and can screen for more conditions than its counterpart test, combined first trimester screening.

Dr Johnston said the team also wanted to understand how it was being delivered in Australia, who was getting access to it and how that was provided.

She told the Herald Sun the test, which takes a small sample of the mother’s blood which has DNA fragments from the baby’s placenta, was the most accurate prenatal screening test available.

“Our results suggest that socio-economically disadvantaged people are possibly receiving lower quality care,” Dr Johnston said.

“We also found the health care professionals we surveyed had really variable knowledge of this test. This is an important finding because their knowledge of the test influences how it is made available to patients.”

The research also revealed health care professionals who work in private practice or in metropolitan areas across Australia were more likely to offer NIPT to all pregnant patients, but those in the public sector or regional and remote areas were less likely to.

Dr Johnston said some survey respondents also said they didn’t have enough information on the test to effectively counsel patients on their options.

Asked if NIPT should be available to all pregnant women, Dr Johnston said she believed giving people the option was a good thing.

“This is the best way to support the reproductive autonomy of pregnant people and their partners, by giving them the option to determine what information on their pregnancy that they would like to receive,” she said.

“This information can be really important to people for their decisions regarding the future of their pregnancy, but also for preparing for the birth of their child.”

Last year the federal government announced plans to make genetic carrier screening for certain conditions free as part of an $80m investment in preconception (before pregnancy) screening.

A 2018 decision by the federal government’s Medical Services Advisory Committee found NIPT would cost $100m a year and it did not support subsidising the test because it wasn’t cost-effective.