The Nuffield Council on Bioethics’ report on non-invasive prenatal testing (NIPT) was published last week, with a launch event in the House of Commons. The event itself was full of emotion, reflecting the real and important impact that NIPT and prenatal testing can have on people’s lives. The report has also elicited a number of other reactions. Having spent the last 12 months or so talking to a wide range of people and organisations with an interest in NIPT, this does not surprise me. As we didn’t have time to answer every question at the event, this article attempts to continue the conversation, respond to some of the specific comments that have been aired, and describe how we came to our conclusions and recommendations.
Too restrictive or too permissive?
Some groups have commented that our conclusions are too restrictive, particularly in relation to our recommendation that NIPT should only be used to test for significant medical conditions or impairments (with some exceptions). Others believe that they are too permissive, for example that we have missed the opportunity to support campaigns to end prenatal testing for Down’s syndrome altogether. We heard a wide range of views expressed throughout the project. Whilst the people who engaged with us may not have been representative of the general public, of those who supported reproductive autonomy, most did not support the unrestricted use of NIPT. Similarly, few who expressed concerns about the implications of NIPT on disabled people suggested that women should be prevented from accessing NIPT altogether. For example, although the six people with Down’s syndrome who were interviewed for the project were saddened and disappointed by decisions to terminate following testing, most also respected a woman’s right to choose, as did many of the people we spoke to.
Through the ethical approach we set out in the report, we believe we have struck a proportionate balance between the conflicting ethical values at play. We acknowledge the huge benefits that NIPT can offer to pregnant women and couples, particularly those with a family history of a significant medical condition or impairment that they wish their children not to have. NIPT can provide early information about a pregnancy without putting the fetus at risk, giving women the opportunity to seek further testing, prepare psychologically and practically for a disabled child, or to consider a termination.
But, we also emphasise that it is essential that NIPT is offered in a context where women and couples are able to make genuine choices about having testing or not, and about what to do once they receive their results, particularly given the differing views on what a particular condition might mean for them and their family. This is why we suggest NIPT should only be offered when the test provides an accurate prediction of whether the fetus has the condition or not, and when it is accompanied by accurate, balanced, non-directive information and support. This is not about restricting options for women and couples, or not trusting them to make autonomous choices. It is about ensuring the NHS and private providers are meeting their obligations to support people with good and meaningful information at what could be an extremely difficult time.
Our report also acknowledges that NIPT, or any prenatal testing for significant conditions, may have adverse effects on people with those conditions. We heard concerns that the existence of NHS prenatal screening programmes or testing services sends the message that people with these conditions are not valued by society, which can be upsetting and offensive to them. Moreover, some are concerned about an increase in terminations and the possible implications of this, such as people with genetic conditions being ‘screened out’. To address these issues, rather than recommending a ban on NIPT which would deny women and couples the benefits of NIPT, we urge the Government to meet its duties in providing disabled people with high quality specialist health and social care, and in tackling discrimination, exclusion and negative societal attitudes experienced by disabled people.
In addition, whilst we recognise the value of NIPT in national prenatal screening programmes, we make a number of recommendations to the UK National Screening Committee that aim to improve the way in which it assesses and reviews prenatal screening programmes where termination of pregnancy is an option, ensure it better considers the wider consequences of prenatal screening, and improves the transparency of its processes.
Our rationale for recommending that NIPT should not normally be used to test for less significant medical conditions and impairments, for carrier status, for adult onset conditions and for non-medical traits is described in full in the report. Essentially our reasons are that it has no clinical value, it can (as a result) create unnecessary anxiety, and it removes the future person’s ability to choose whether to have that information. What we recommend is in line with current medical practice both in prenatal genetic testing and in genetic testing of children. Unless termination of pregnancy is an option, or if immediate treatment is required, it is normally left to the person themselves to decide whether they want testing or not, once they are capable of making that decision. We note that exceptions may arise and that we would support the use of NIPT for adult onset conditions if the condition is extremely serious, if there is no treatment available, and if termination of pregnancy is an option. Again, this is in line with current practice – prenatal testing for Huntington’s disease, for example, is already available to families with a history of this condition using invasive testing methods if they wish to have it.
In supporting the use of NIPT for significant medical conditions but not for less significant conditions and non-medical traits such as sex (unless there is a chance the fetus has a significant sex-linked genetic condition), some have suggested that we are applying double standards, or that we are being paternalistic, or discriminatory against disabled people, and that we are denying the rights of women to access information about their fetus
This range of responses illustrates why it can be so difficult to steer a course through the various dimensions of this issue. There will always be different views, of course, and different ways of framing the argument. There are some important points on which I think most can agree, however. One is that disabled people should not experience discrimination, and neither should anyone else. Recommending that NIPT should not be used for sex determination is based mainly on our perception that there is a genuine risk it could perpetuate discrimination against women. We recognise that for some the use of NIPT for significant medical conditions could also be perceived as promoting discrimination against disabled people. However, we think there is an important difference. Although the effects of significant conditions and impairments on people’s lives and opportunities, and on those of their families, is often exacerbated by the wider social and cultural context, we believe the intrinsic characteristics of the condition or impairment can, in and of themselves, have significant effects on family life. The same, we believe, cannot and should not be said about being a girl. Of course, the vast majority of women would never consider having a termination on the basis of sex or any other non-medical feature. However, we did not feel we could ignore the evidence that sex selective terminations do take place to a significant extent in other countries and that ‘sex selection’ tourism also occurs. For these reasons, we believe women and couples should have a choice about whether or not to have a child with a significant medical condition or impairment, but not about whether to have a boy or a girl.
NIPT or NIPD?
Finally, a word on terminology. We decided early on to refer to any use of the technique of analysing placental cell free DNA in a woman’s blood as ‘non-invasive prenatal testing’ or NIPT. Not long ago, all uses of this technique were called non-invasive prenatal diagnosis or NIPD, before it was discovered that it does not give a definitive diagnosis for all genetic conditions, for example in the case of aneuploidies such as Down’s syndrome. Non-invasive prenatal testing or screening (NIPT or NIPS) then became the preferred term for testing for aneuploidies. The term ‘NIPD’ now tends to be used when NIPT is offered to women who have a family history of a rare genetic condition or when an anomaly has been seen on an ultrasound scan, in which circumstances NIPT is often diagnostic. Achondroplasia and cystic fibrosis are examples of rare genetic conditions for which NIPT can provide a prenatal diagnosis. However, NIPT is not always diagnostic when it is used in this kind of context. For example, when it is used to test the sex of a fetus to indicate whether it has the chance of developing an inherited sex-linked disorder, an invasive diagnostic test is still required to get a definite diagnosis.
Using words such as screening, testing and diagnosis as a way of conveying the accuracy of the test has the potential to be confusing. We question whether many people understand that describing something as ‘testing’ or ‘screening’ means it does not give a definitive diagnosis. We decided that it was more important to describe the context in which the technique is being used when thinking about the ethical issues raised. Our report, therefore, considers the use of NIPT in three main contexts 1) NIPT in NHS screening for aneuploidies, 2) NIPT for rare genetic conditions in the NHS and 3) NIPT in the private sector. Within these three contexts, we are clear about when the test is diagnostic and when it is not.
Continuing the conversation
Whilst at first sight NIPT might have appeared a positive and uncontroversial addition to the tools available for prenatal testing, on closer examination it becomes clear that a number of tricky questions arise when it is considered in various contexts. Our report is intended to offer a contribution to the debate around these questions, but clearly that is a debate that can and should continue. In his closing remarks at our launch event last week, our Parliamentary host Mr Speaker, John Bercow MP, said that: “The debate is never altogether resolved… Each side should treat each other with respect.” We wholeheartedly agree and look forward to discussing our conclusions in this spirit with policy makers, healthcare professionals, interest groups and others in the coming months.