Reproductive carrier screening can identify conditions like spinal muscular atrophy, but this testing is often not done at all or not done before a woman gets pregnant, according to a new study.
Although reproductive carrier screening (RCS) can allow for the early identification of genetic conditions, pregnant women from the most advantaged areas are significantly more likely to receive this screening, highlighting the need to reduce social and financial barriers that currently limit access to this screening for women in the most disadvantaged areas, according to a study published in the Australian and New Zealand Journal of Obstetrics and Gynaecology.
RCS is used to screen for multiple conditions, but most commonly for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. In Australia, these tests have been available commercially since 2012.
“Although recent estimates suggest that the lifetime cost of care of a person with a recessive condition exceeds 1.5 million Australian dollars [approximately US $1.1 million], this will increase since the cost of newly introduced therapeutics exceeds two million dollars [approximately US $1.5 million] per dose: recent studies report that population-based pre-conception screening is cost-effective,” the authors noted.
The Royal Australian College of General Practitioners and the Royal Australian and New Zealand College of Obstetricians and Gynaecologists both recommend RCS be considered or offered to all women or couples in either early pregnancy or the pre-conception period. However, individuals have to self-fund these tests since there is no funding of RCS through the Australian government’s Medicare Benefits Schedule.
The researchers analyzed the impact socioeconomic status had on the uptake of RCS among Australian women who were either in early pregnancy or planning to get pregnant. To estimate the women eligible, they used rubella serology testing as a surrogate marker since this is recommended as part of pre-conception or pregnancy care. They used the Australian Bureau of Statistics index of Relative Socioeconomic Advantage and Disadvantage to measure socioeconomic status.
They had data from 2033 postcodes (77.3%), 104,060 rubella serology test and 1413 RCS. In the majority (66%) of postcodes that had 1 or more rubella tests, no RCS was performed, the authors found.
“We found a steep socioeconomic gradient in uptake of RCS testing,” the authors explained. Nearly all (98.2%) of the postcodes in the most disadvantaged socioeconomic decline had no RCS testing. While a majority of postcodes in the most advantaged decile also had no testing, it was significantly lower at 53.9%.
The author estimated that the overall uptake of RCS compared with rubella tests is only 1.36% in Australia. In comparison, in 2015, a study in the United States found the uptake closer to 5%. According to the authors, the effective utilization of RCS depends on awareness and understanding of the testing; however, the challenge is that raising awareness should be done before conception, and it is currently done mostly after women are already pregnant.
“However, the observation that most RCS are currently limited to women living in the most advantaged areas highlights that social and financial barriers limit access,” the authors concluded. “If a woman’s access to RCS is hindered by a financial barrier, this subsequently and inevitably generates larger social and financial costs.”
Robson ST, Caramins M, Saad M, Suthers G. Socioeconomic status and uptake of reproductive carrier screening in Australia. Aust N Z J Obstet Gynaecol. Published online August 4, 2020. doi:10.1111/ajo.13206