In February, two years after we published our report on non-invasive prenatal testing (NIPT), and seven years after NIPT became available in the UK, we were frustrated by a lack of action by regulators, professional bodies and private companies in response to our recommendations for improving practice.
What a difference six months can make. Following a BBC radio and online feature on the variable accuracy of NIPT, and our most viewed blog post ever, NIPT is starting to get the attention it deserves. Here’s an update on what’s happened.
The Royal College of Obstetricians and Gynaecologists (RCOG) is in the process of commissioning two new guidelines.
The first guideline will advise healthcare professionals on offering NIPT as a pregnancy screening test for chromosomal conditions, such as Down’s syndrome, and for some rare genetic conditions. While yet to be commissioned, it is expected the guidance will cover the care of women through antenatal screening and further diagnostic testing if opted for. Further details will be published on the RCOG website at the end of September.
The second piece of guidance is yet to be commissioned but is likely to be a Good Practice Paper. It will aim to support decision making after the diagnosis of fetal anomaly in pregnancy, ensuring results are provided in a non-directive way, and to guide clinicians in providing high quality care for women to support the choices they make.
Both guidelines will take around two years to complete and will apply to healthcare professionals working in the NHS and in the private sector. In the interim the College is working on a position statement to ensure its members understand the importance of providing impartial support and options to women and their partners throughout antenatal screening through to diagnostic results and beyond.
The RCOG is welcoming the involvement of a wide range of stakeholders in the development of this guidance. If you would like to register as a stakeholder, please contact firstname.lastname@example.org.
The need for professional guidance in this area was underlined when we met the Care Quality Commission (CQC) recently. Last summer, the CQC started inspections of private clinics in England that offer NIPT and keepsake baby scans. The inspection framework asks important questions such as “How does the service ensure that the woman fully understands the procedure and potential results of the test before consenting?” and “Are staff trained in any way to be able to explain and discuss the associated benefits and limitations of the NIPTs screening with women?” But there are no links provided for inspectors to any professional standards specific to the offer of NIPT. The RCOG’s work will help fill this space.
In our report, we drew attention to how the use of statistics such as ‘99% accurate’ can give a misleading impression of how good NIPT is at detecting different conditions in a fetus. Using language such as ‘positive result’ and ‘diagnostic appointment’ are also misleading, given NIPT is not a diagnostic test for many conditions, including Down’s syndrome. Advertising rules state that marketing communications must not materially mislead and any claims must be backed up by documentary evidence. The Advertising Standards Authority is currently investigating a number of private clinics that offer NIPT, focusing on the information provided on their websites. The outcomes of the investigations are expected to be available within the next couple of months.
The largest private provider of NIPT in the UK, Ultrasound Direct, has made some positive changes to its service. Its 80+ Babybond clinics have stopped offering NIPT for sex chromosome conditions, such as Turner’s syndrome, or for microdeletion conditions, due to uncertainties about the accuracy of NIPT for these conditions. In addition, its website now includes information on the detection rate of NIPT for all conditions being tested for, and there are links to more detailed information about the positive predictive value of the Harmony test.
Ultrasound Direct is also working to establish referral pathways for onward NHS care for women and couples who receive a high chance NIPT result, but the company reports ongoing challenges in this area. Strengthening links between the private sector and the NHS is something the new RCOG guidelines might usefully address.
For those looking for information on the conditions that NIPT tests for, the NHS website (previously called NHS Choices) is often the first port of call. We are pleased that the information about Down’s syndrome on the NHS website has recently been updated with the help of the Down’s Syndrome Association. It now gives a much more balanced portrayal of Down’s syndrome and what to expect from a life with the condition. The section will undergo a more in-depth review in the near future.
Training for healthcare staff
One of the least tangible but in many ways most important conclusions of our report is that women and couples will be better able to make genuine choices about their pregnancies if all disabled children are actively welcomed when they are born and valued as equals. This is critical for reasons beyond prenatal screening.
Many organisations and individuals work tirelessly to try to ensure disabled people receive high quality health and social care, and to combat discrimination, exclusion and negative societal attitudes. A positive development is the proposal by the Department of Health and Social Care to provide training for healthcare staff to help them understand the needs of people with a learning disability and autistic people, and make reasonable adjustments to support them. We welcomed the proposals. However, with regular reports of failures in the care of people with learning disabilities, there is an urgent need for further action.
It’s taken a while to get here but we are pleased to see progress in these different areas, all of which could make a real difference to the lives of women and couples undergoing pregnancy screening. We look forward to seeing these initiatives translate into changes in practice.
I would like to take this opportunity to thank all the people who have worked with us over the past few years on this issue, particularly our dedicated working party on NIPT, led by Professor Tom Shakespeare. For kickstarting the recent flurry of activity, I’d like to thank Claire Bell, who talked about her personal experiences articulately and honestly, and Charlotte Hayward at the BBC who recognised an important story and ensured sensitivity and accuracy in her reporting.