December 3, 2021

Non-invasive prenatal testing is becoming a growth industry

A fascinating article in the journal Annual Reviews examines the uptake of non-invasive prenatal testing (NIPT) in Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States.

NIPT one of the world’s fastest-spreading genetic technologies. The global market was US $3.9 billion in 2019 and will reach US $7.3 billion by 2024. It is non-invasive, safe and reliable, although it is only a screening test and results should ideally be followed by a diagnostic test.

At the moment it can accurately screen for Down syndrome, as well as several other less common genetic anomalies: Edwards syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome and triple X syndrome.

There are problems with equitable access – NIPT is too expensive to use in poor countries and even wealthier countries are reluctant to fund it as part of the public health system. Only in the UK is the cost government-funded.

Effective counselling is also problematic. NIPT is not diagnostic and mothers should not make decisions about terminations without confirming the results. But often this does not happen.

But from an ethical point of view, the most controversial feature of NIPT is that many women will abort their child after learning of the abnormality. A cynic might even argue that NIPT is basically a marketing tool for abortion clinics. As the authors note, this is sometimes factored into studies of the cost-effectiveness of public funding. In other words, economists assess the life of a person with a disability as a drain on the economy.  

Looking to the future, they write: “Additional challenges will emerge from the gradual expanded use of NIPT to generate an increasing amount of genetic information, potentially toward less severe conditions and even nonmedical characteristics. Nuanced and contextualized discussion of socio-ethical implications is indispensable as countries cope with decisions regarding what uses of NIPT they wish to allow or fund.”