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26/11/2014

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Public engagement and prenatal diagnosis

Science is ahead of opinion, say Leeza Osipenko and Ala Szczepura

Public engagement has become an increasingly important aspect of healthcare in the last decade.  However, while policy makers now advocate public involvement in decision-making about the introduction of newly developed medical technologies, it is rarely used for guiding scientists through the development process itself. 

Over the past five years, a major Network of Excellence (SAFE, http://www.safenoe.org/) has been funded by the European Commission to support scientific advances in non-invasive prenatal diagnostics (NIPD).  These diagnostics are based on foetal DNA or mRNA in maternal blood.  NIPD technologies are designed to replace invasive procedures such as chorionic villus sampling and amniocentesis, prenatal diagnosis procedures for determining chromosomal or genetic disorders in the foetus,. Both of these procedures have a risk of miscarriage. 

Already, NIPD tests for fetal sex determination and blood grouping are in clinical practice in many European countries, without any public debate.  Further advances will eventually enable ‘risk-free’, early prenatal diagnosis of conditions such as Down’s syndrome, cystic fibrosis or the haemoglobinopathies (sickle cell disease, thalassaemia).

Science, not engagement

Up to now there has been little public engagement in this technology development process.  The major focus of the €12 million (£10.7 million) investment in SAFE has been on achieving scientific goals.  There has been some initial consideration of economic aspects of NIPD and informed choice for individual women.  However, wider public engagement is now crucial. 

As new tests emerge, difficult decisions might need to be made.  Although NIPD can lead to benefits from the clinical point of view, it is unclear whether this view will be shared by pregnant women or the general public.  To date, there has been no attempt to canvas opinion about this new generation of antenatal NIPD tests.

Women and couples already at risk of having a baby affected by a life-limiting genetic condition have long desired the possibility of a safe, non-invasive method that will establish whether or not their current pregnancy is affected.  However, for women with no prior risk, it is unclear whether the offer of NIPD diagnosis would be preferred to a screening test that first assigns them to a high or low risk group.  Would such women and their families welcome the new tests or resent them?  Would NIPD in future present parents with more difficult decisions than do current tests?

Individual benefits and global dangers

Equally important is the question of trade-offs between social and individual benefits and the risk of unintended global consequences.  For example, non-invasive determination of fetal gender in early pregnancy will be greatly beneficial for the very small number of families at risk of sex-linked disorders, such as Duchenne muscular dystrophy or hemophilia.

At the same time, a great deal of interest has already been generated in the use of the fetal gender test as a tool for social use, which may include sex-selection.  While in the West a non-invasive gender test may be desired to satisfy curiosity, in Asia such a test may eventually replace ultrasound, providing a tool for sex-selection more difficult to regulate, with devastating social consequences. 

Companies in the USA and elsewhere already offer women (or their partners) blood-spot, postal test kits over the internet.  These tests bypass physicians, and may also offer inaccurate information since no external quality control mechanisms are in place.

Recent progress in developing NIPD is hugely encouraging, but we need a full public debate before we rush into this new era. NIPD should be carefully evaluated scientifically, and its clinical limitations and possibilities properly assessed. There should also be public engagement at an early stage to help prioritize technology development, and enable public and clinicians alike to consider how it should be implemented in a global healthcare market.

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Dr. Leeza Osipenko
Dr. Leeza Osipenko is Senior Research Fellow in the Division of Clinical Sciences at the University of Warwick
Ala Szczepura
Ala Szczepura is Professor of Health Services Research in the Clinical Sciences Research Institute at the University of Warwick
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