Written evidence submitted by Don't Screen Us Out (CGN0034)

Executive summary

Don’t Screen Us Out have been campaigning around Down’s syndrome screening and the introduction of NIPT since January 2016. We have worked with the public, professionals and policy makers who have an interest in prenatal screening programmes and the associated outcomes. We are concerned that, contrary to equality law and guidance, the Down’s syndrome antenatal screening programme makes no consideration of those people living with Down’s syndrome. There are ethical implications when genomic testing is available without due diligence having been carried out in the UK. Due diligence must be carried out as a matter of priority, as there are no therapeutic benefits that genomic screening provides in the case of Down’s syndrome screening.

Our research has found a wealth of evidence that there are ethical issues, associated with Down’s syndrome prenatal screening and the introduction of genomic testing, into these programmes. We seek to ensure that people are made aware of this, and that screening authorities take action to rectify this situation

1. Down’s syndrome screening programmes which have been in place for several decades now, offer no health benefits. In fact, the last data collected, which is now out-of-date, showed that 90% of pregnant women who screen for Down’s syndrome go on to terminate the pregnancy and this is an alarmingly high figure. However, there has been a surprising lack of national data collection for Down’s syndrome screening programmes in recent times, this should be a cause for concern.

2. Medical research around Down’s syndrome is scarce, possibly due, at least in part, to the availability of prenatal screening. At a meeting in 2016 arranged by Nuffield it was said that screening for conditions such as Down’s syndrome has been made available as a money saving venture. Down’s syndrome screening is unethical (according to a 2003 study), and these issues have never been addressed.

3. Even if the intention of Down’s syndrome screening programmes has now changed, as our sensitivity to human rights and disability legislation has sharpened, and the intended benefit now is to operate a system to provide women with information, there is no recognised pathway for those continuing pregnancy after hearing that their baby has Down’s syndrome. This issue must be addressed.

4. To date, there has been no formal investigation into the ethical implications of introducing genomic testing into Down’s syndrome screening programmes. The ethical issues associated with the introduction of genomic screening were deemed to be outside the scope of the UK NSC public consultation on NIPT and there has since been a call from the BMA to hold further public consultation around genomic screening. The outstanding ethical issues must be addressed to ensure ethical practise in the public and private sectors.

5. Within the NHS, there was no indication that a budget would be established to provide counselling for those participating in new genomic screening programmes. The desire to introduce the technology should not have surpassed the desire to ensure that all aspects of its effects had been dealt with. Thus, the NHS doesn’t provide any good practise for commercial companies to learn from.

6. One risk associated with genomic screening is that its accuracy may not live up to the hyperbole surrounding it, leaving the NHS and commercial companies vulnerable to public complaint. There is a further risk that genomic screening proliferates discrimination against those living with targeted conditions, such as those with Down’s syndrome. Furthermore, in future, cases may be brought by such individuals who will not have consented to prenatal testing or who felt that such testing has had a detrimental effect on the quality of their lives. Therefore, there is insufficient protection in place for those undergoing genomic testing for Down’s syndrome in all sectors. Public and private sources have exaggerated the increased accuracy of NIPT, leading some women to believe that genomic screening for congenital anomalies is as good as diagnostic. This issue must be addressed.

7. The risks associated with utilising genomic testing to detect Down’s syndrome as part of a system which has eugenic origins are numerous. This programme has previously been considered as a way to reduce those being born with Down’s syndrome, and can lead to direct conflict with a now well-developed set of human rights and disability rights.  Staff involved with pregnant individuals should not use fear of disability as a means to increase take-up of screening. All staff working with pregnant individuals must be aware that human rights and disability rights are there to ensure that society considers those with disability to be equal and deserving of support. Unfortunately, there has been no ethical framework put in place to deal with all of these issues. Although Nuffield Council of Bioethics produced a report around NIPT, the recommendations therein, which deal with some of the ethical and practical issues, have not been implemented.

8. Despite setting up an Ethics Task Group (ETG), we have been recently informed that the ETG will not be considering the outstanding ethical issues associated with antenatal screening, yet we have gone to great efforts to raise awareness of the ethical issues associated with Down’s syndrome screening. This matter requires immediate attention so that both public and private sectors are fully aware of the implications of Down’s syndrome screening.

April 2019

APPENDIX

EVIDENCE OF THE ETHICAL ISSUES ASSOCIATED WITH PRENATAL SCREENING AND NIPT

• A 2001 study, Downs syndrome cost, quality and value of life by Priscilla Alderson of UCL. https://www.sciencedirect.com/science/article/abs/pii/S0277953600003658

• A 2003 study at Queen’s hospital carried out http://jcp.bmj.com/content/56/4/268 concluded that screening for Downs syndrome is unethical.
• A 2008 article by Frank and Prof. Sue Buckley, 2008 https://www.down-syndrome.org/editorials/2087/ ‘The authors of this editorial do not consider a diagnosis of Down syndrome to be a sufficient reason to justify termination and so disagree with the basic premise for prenatal screening for Down syndrome.’
• In 2009, Alison Hall of the PHG foundation discusses ethical issues around screening in this document where she tells us ‘Consideration of these ethical, legal and social issues should play an important role during the introduction of cffDNA [NIPT] technology’ http://www.phgfoundation.org/download/ffdna/ffDNA_appendix.pdf
• Dr. Brian Skotko’s 2011 study on people with Down’s syndrome found that they were happy with their lives http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.34235/abstract
• In 2012. Janet Lord, International Disability Rights expert wrote ‘As implemented in practice, however, screening policies, fall afoul of CRPD principles.’ Referring to the United Nations Convention on the Rights of People with Disabilities (UNCRPD) http://www.ijdcr.ca/VOL12_02/articles/lord.shtml
• In 2015, Stephen Holland of York University, devoted some time to these matters in his book, Public Health Ethics. Specifically, (General criteria for Ethical Screening) he talks about the issues with inaccurate screening; that there should be accepted and effective treatments; that ‘case finding’ should be continuous and in balance.
• Heather Strange of Cardiff, 2015 dissertation on NIPT considered the issues raised by NIPT. http://www.academia.edu/17036581/Patient_and_professional_experiences_with_non-invasive_prenatal_diagnosis_NIPD_and_testing_NIPT_social_and_ethical_issues_raised
• In 2015, the ‘Report of the IBC, Updating its reflection on the Human Genome and Human Rights’ included a section on NIPT – ‘Many fear that the widespread use of NIPT as general screening may induce ‘eugenic’ use, even when the state is not involved. The adding up of a lot of individual choices to the ‘acceptability’ of aborting certain kinds of embryos or foetuses brings forward a societal phenomenon, which resembles a kind of eugenics in the search for a ‘perfect child’. It is therefore important to develop a framework that on the one hand acknowledges the right of an individual to make autonomous choices, and on the other hand ensures what is enshrined in articles 6 and 2 of the UDHGHR: that no one shall be subjected to discrimination based on genetic characteristics and that individuals should be respected in their uniqueness and diversity’. https://unesdoc.unesco.org/ark:/48223/pf0000233258
• Blogs published in 2015 and 2017 reflect Prof. Beckie Bennett concerns around antenatal screening. http://blog.law.manchester.ac.uk/routine-antenatal-testing-for-downs-syndrome/

http://blog.policy.manchester.ac.uk/posts/2017/03/downs-syndrome-bioethics/

• In 2016, an article in the AMA Journal of Ethics, by Dr Gareth Thomas from Cardiff University speculated: ‘We argue that prenatal screening (and specifically NIPT) for Down syndrome can be considered a form of contemporary eugenics, in that it effaces, devalues, and possibly prevents the births of people with the condition.’ https://journalofethics.ama-assn.org/article/keeping-backdoor-eugenics-ajar-disability-and-future-prenatal-screening/2016-04
• In 2017, Prime Minister David Cameron, stated in Parliament that ‘there are moral and ethical issues that need to be considered in these cases.’  There has not been clear evidence to indicate that these issues have been addressed.

• In 2017, Dr. Gareth Thomas book explored how and why we are so invested in Down’s syndrome screening practice and what effects this has on those involved. Informed by theoretical approaches that privilege the mundane and micro practices, discourses, materials, and rituals of everyday life, Down’s Syndrome Screening and Reproductive Politics https://www.routledge.com/Downs-Syndrome-Screening-and-Reproductive-Politics-Care-Choice-and/Thomas/p/book/9781138959132
• In 2016, Dr. Barbara Barter, carried out a small-scale consultation with people with Down’s syndrome around prenatal testing and NIPT. One of her recommendations was ‘Policy makers should take steps to mitigate the potential for the implementation and presentation of NIPT to be perceived by people with Down syndrome as questioning the value of their lives and themselves as ‘wanted’. http://nuffieldbioethics.org/wp-content/uploads/Barter-report-on-NIPT-summary-plain-English.pdf
• Down’s syndrome Scotland’s 2017 Health survey found “With regard to ante/post-natal care, findings from our questionnaire illustrate appalling behaviours from professionals who are supposed to support expectant/ new parents. DSS therefore asks for the review of pregnancy screening practice as a matter of urgency, as well as a review of the support given to parents whose baby is diagnosed with Ds at birth” Conclusion of https://www.dsscotland.org.uk/wordpress/wp-content/uploads/2017/03/DSS-Listen-to-Me-pdf.pdf
• In 2017, during the Disability Equality Bill Debate, Lord Winston deemed Down’s syndrome a “relatively minor” condition https://hansard.parliament.uk/Lords/2017-02-24/debates/CC8223A5-13F6-4AAA-A9B7-3F287A90A456/Abortion(DisabilityEquality)Bill(HL)
• In 2017, a UN Report focussing on the UK and the UN CRPD was published. https://dpac.uk.net/2017/09/concluding-observations-from-un-periodic-review-of-uk/
• At UK NSC conference in December 2017, Prof Brownsword of UK NSC Ethics Task Group presented a slide highlighting: ‘The challenges for the Ethics Task Group’:

• to identify relevant ethical considerations (when they are deeply contested)

• to figure out when and how to engage with ethical issues

• having transparent, practical guidance and proportionate operating procedures while ensuring meaningful engagement https://www.slideshare.net/PHEScreening/uk-nsc-stakeholder-event-2017-prof-roger-brownsword-ethics-presentation