25 January 2016
University of Montreal, Canada; University of Pennsylvania, USA; University of California, San Francisco, USA; New York University, USA; Mayo Clinic, USA; Duke University, USAAppeared in BioNews 836
To fill this gap, we organised an international four-day workshop (5) to explore the ethical, legal, social, economic, clinical and practical implications of the international expansion of NIPT, reportedly now available in over 90 countries. Our objective was to take a comparative approach, with a particular focus on LMIC.
The workshop was hosted by the Brocher Foundation in Geneva, with additional support from the Wellcome Trust. It included 24 participants who presented perspectives from 16 different countries, including Argentina, Australia, China, Hong Kong, India, Israel, Japan, Lebanon, Nigeria and South Africa, as well as the UK, the USA and Canada, to discuss and compare the implementation of NIPT globally.
The workshop created a unique opportunity to shed light on the tremendous diversity of clinical and social needs surrounding the implementation of NIPT within various healthcare systems and cultural contexts. Some key issues that emerged from our discussions touched on:
Informational needs: The global shortage of counselling and informational resources, both in terms of specialised healthcare providers, such as genetic counsellors and clinical geneticists, and in terms of written and electronic educational materials, is apparent. The rapid evolution of NIPT, which encompasses a growing number of genetic conditions with varying levels of reliability, led us to highlight the global need for innovative approaches towards training and educating healthcare providers (including midwives and community health workers), as well as counselling, educating and engaging women.
Commercial pressures: NIPT is largely provided by six for-profit companies, and many concerns were raised by the commercial implementation of NIPT worldwide and by companies' economic drive to increase its uptake. The aggressive marketing of NIPT in many countries increases pressures to use the technology, which remains prohibitively expensive in many places. These pressures can be especially problematic in light of the lack of neutral and balanced informational resources that would allow healthcare providers and women/families access to non-biased information. It is particularly challenging in areas with lower literacy and acute shortages of trained genetic professionals who may have no, or very limited, access to materials. The role of oversight or formal regulation of genetic tests in many countries was also discussed, particularly as providing ways to mitigate these commercial pressures.
Economic realities: Economic realities have an essential impact on the way NIPT is being adopted, both at the level of individual families and at the level of healthcare systems. Low-income countries may provide little social and economic support for individuals with disabilities and their families, and may offer fewer clinical options for women who receive a prenatal diagnosis. The introduction of NIPT may thus turn towards routinisation, which raises significant challenges to the notion of free and informed choice and the possibility of declining testing, as well as the concern that it may be used prematurely as a diagnostic rather than a screening test (requiring confirmation by an invasive diagnostic test). The meeting revealed the complex needs of women for support and information, as well as creative strategies for grappling with economic challenges occurring in various nations.
Cultural diversity: Throughout our discussions, we continually encountered the importance of engaging with cultural differences in appropriate and sensitive ways that can foster an ethical implementation of NIPT. The wide spectrum of sociocultural attitudes regarding disability, gender, motherhood, kinship, genetic diversity and disease prevalence, significantly shapes the ways NIPT may be perceived and used. This makes a 'one size fits all' policy approach to NIPT both unwise and impractical.
Access to abortion: In many countries, abortion is illegal or severely restricted. In these places, it may nevertheless be widely practiced clandestinely and unsafely, at great risk to women's lives and reproductive health. The implications of implementing NIPT in countries that provide no legal and safe access to abortion raised discussion about ethical, social and legal considerations as well as greater and nuanced appreciation for realities in different countries that should be addressed.
This workshop was an invaluable starting point for further reflection, for future collaborations and for developing a more robust literature on the implications of the global spread of NIPT that we hope will ultimately help inform policymakers and lead to appropriate and more responsible uses of NIPT globally.