The emergence and global spread of non-invasive prenatal testing

Non-invasive prenatal testing (NIPT), a prenatal screening test analysing fetal DNA in a blood sample from the pregnant person, has become available in more than 60 countries since its introduction ten years ago. Its global market, which was estimated at US $3.9 billion in 2019, is expected to reach US $7.3 billion by 2024. Some of its benefits, such as non-invasiveness meaning it is safe for the fetus, and high reliability for some conditions are largely welcomed by health care professionals (HCPs) and pregnant people alike.

Yet, NIPT also raises complex challenges, particularly associated with cultural, social, legal, and economic contexts. We sought to illustrate this complexity in a review article describing the implementation of NIPT in nine countries that represent diverse cultural and health policy contexts: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States.

Our review shows common challenges – related to equitable access, decision-making about public funding, and shortage of appropriate counselling and informational resources. It also shows differences in attitudes between countries, namely toward disability, pregnancy termination, and the importance of informed and free choice regarding prenatal testing. In this commentary, we present some salient similarities and differences identified by our review.

Cost, Public Funding and Equitable Access
NIPT's cost has significantly decreased over the years, but in countries where it is not publicly funded, cost is still considered a barrier, raising issues of equity of access (see BioNews 1115). Indeed, NIPT's cost is prohibitive for most of the population in countries such as India, China, and Lebanon. In the United States, coverage by private insurers or Medicare is a determining access factor. It also raises justice issues in countries such as Australia, where diagnostic invasive testing, including amniocentesis, is covered but NIPT is not, which limits pregnant people's access to a safer test, with no associated risk of fetal loss. In England, NIPT public funding recently came into effect, as per the recommendations of the UK National Screening Committee. Public funding had already been implemented in Scotland and Wales.

Although public funding of NIPT would promote equitable access and reduce the use of invasive tests, limited resources in lower- and middle-income countries make this difficult. In high-income countries, NIPT funding decisions are complex, partly because they rely on cost-effectiveness studies, which sometimes include the reduction in costs of caring for individuals with the conditions tested by NIPT (in other words: savings to society through the prevention of certain births). This can translate into an evaluation of the value of the lives of people with conditions that can be detected by NIPT, raising acute ethical concerns.

Counselling Resources
Many professional guidelines emphasise the need for appropriate counselling regarding NIPT, to enable and promote autonomous and informed decision-making. Counselling appears to be better funded and organised in countries with close oversight over the implementation of NIPT, such as the Netherlands, or where there has been extensive public consultation, such as the United Kingdom, as outlined in a Hastings Center Report in 2017.

However, a shortage of trained HCPs and lack of comprehensive, balanced, neutral informational materials regarding the test and the conditions it can be used to detect, seems to be an issue in many countries, such as the United States, India, and Australia. This shortage is expected to worsen as the number of conditions that NIPT can test for – and the amount of information that may need to be communicated – increases. To address this issue, many countries have developed online informational resources and decision aid tools. Since the internet and social media are increasingly important sources of information about NIPT for pregnant people, they may be useful tools for HCPs to engage with.

Attitudes toward disability and termination
Regulations – and attitudes – surrounding pregnancy termination are markedly different across countries. Some allow termination at any gestational stage, such as Canada and China. Others ban it completely, unless the life of the pregnant person is at risk, such as Lebanon. Yet other countries impose varying limitations on pregnancy termination, mainly in terms of age of gestation, but in rare cases also in terms of the condition because of which termination is requested. This is relevant to the implementation of NIPT for those who may consider terminating the pregnancy based on certain results.

Attitudes toward disability vary as well but are not necessarily correlated with NIPT's implementation status. For example, in the Netherlands and the United Kingdom, where NIPT implementation is most advanced, implementation of NIPT provoked some social backlash, as shown by significant political and public debates in the Netherlands and the launch of the 'Don't screen us out' campaign in the UK, which advocated against the public funding of NIPT. Conversely, NIPT raised no disability rights concerns in Israel and China, but is not covered by the public health care system there. Nevertheless, NIPT should always be implemented in ways that allow pregnant people to make free and informed choices. This includes having measures to support people with disabilities and the opportunity to receive full and balanced information.

Conclusion
Our review shows that NIPT's implementation and uptake are influenced by many interwoven factors, such as the structure of the healthcare system; public funding of prenatal testing; sociocultural, legal, and political contexts. As NIPT evolves from a second-tier to a first-tier screening test, and as its use is expanded to additional conditions, the issues discussed will be exacerbated. We conclude our review published in Annual Reviews by stating that '[n]uanced and contextualised discussion of socioethical implications is indispensable, as countries cope with decisions regarding what uses of NIPT they wish to allow or fund.'