Ethical, social and regulatory issues in advanced prenatal testing

Funded by the Australian Research Council, Linkage Projects scheme. LP190100841

In 2011, non-invasive prenatal testing (NIPT) was first introduced into clinical practice in Hong Kong and quickly spread to other countries. NIPT techniques are now widely used, including in Australian clinical practice since late 2012, and can provide information about an extensive range of genetic conditions prior to birth. When compared to traditional prenatal screening, NIPT offers a high specificity and accuracy for foetal genetic conditions early in pregnancy. Its provision through a maternal blood test also removes the risk of miscarriage associated with invasive, diagnostic prenatal tests.

Yet, the increasingly broad uptake of NIPT and the expanded range of information available raises significant and complex questions about policy and practice in prenatal screening. The adoption of NIPT raises concerns around the development of adequate pre- and post-test education for pregnant people, and the social values that the technology of NIPT confirms or undermines. Further, questions are raised as to the social policies and practices required to support reproductive autonomy in prenatal testing.

In this project, we investigate the social, ethical and regulatory issues arising with the rapid advancement and increased use of genomic non-invasive prenatal testing in early pregnancy in Australia. Existing research highlights considerable variability in the utilisation of prenatal screening globally, thus demonstrating a need for research on the Australian experience. This project expects to generate recommendations and guidance for providers at the forefront of NIPT as well as insight into key issues such as consent and equitable access to genomic health technologies in human reproduction.