The Nuffield Council on Bioethics, an independent think tank on bioethics, launched their report on the ethical issues of NIPT(non-invasive prenatal testing) in 2017. NIPT, a new more accurate way of screening for Down syndrome, is part of the genetic testing market, predicted to grow to a value of $22 billion by 2024.
NIPT raises many ethical difficulties, covered by Nuffield. However, the Down syndrome (DS) community did not agree with all of its conclusions. Sally Phillips, actor, comedian and mother of a young man with Down syndrome, made this clear in her response when she questioned the difference Nuffield had drawn between screening for sex and screening for Down syndrome. “For you we still fall the wrong side of the line… leaving DS in the significant medical conditions box you are saying that discrimination against their lives does not have the right to be protected against.”
However, the report did, at least, outline some of the issues to be resolved in order to have a more ethical roll-out of NIPT. Two years on, how far have we got?
NIPT is a groundbreaking technology that uses a sample of the mother’s blood, containing maternal and placental cells, to estimate the chance that the baby will have a genetic variation. It is already in wide use in the private sector, where companies in the UK are offering parents the chance to find out if their unborn baby has a higher chance of everything from Down syndrome to deafness.
Some US companies are offering prenatal genetic testing to sequence the whole genome of babies, whilst others have suggested that we will be able to use genetic testing (not specifically NIPT) to identify the chance of the embryo having a low IQ. Further, a patent has been issued for using genetic testing to analyse unborn babies for the chance that they may have autism.
Back in the UK, the National Screening Committee announced their approval of the use of NIPT in the NHS screening pathway in October 2016, on a Saturday, in the Guardian, without waiting for Nuffield’s final report. However, although roll-out of free NIPT tests in the NHS was planned for October 2018, it is not yet officially part of the screening pathway. The hold-up was legal rather than ethical and that may soon be resolved. However, so far most of the ethical issues raised by the Nuffield report have not been addressed. I cover four main ones below:
- There continues to be no national care pathway for women wishing to continue their pregnancy following a high chance or positive result from testing (20, Nuffield Report). Neither NICE nor the Royal College of Obstetricians and Gynaecologists (RCOG) have prioritised this in the last two years. What little guidance there is remains buried in RCOG guidelines entitled Termination of Pregnancy for Fetal Abnormality published in 2010. Nuffield strongly suggested that the name of this guidance should be changed immediately to reflect the inclusion of continuation of pregnancy guidance and that that section should be substantially expanded, or separate guidelines should be produced.
- Misinformation continues to abound around what NIPT is and what it can do (6.8, Nuffield report). NIPT is a more accurate screening test, but it is not a replacement for a diagnostic test such as amniocentesis or CVS. Further, tests are evaluated by different measures, the difference between these appears to continue to elude manufacturers, clinics, midwives, consultants and the media. Sensitivity measures what percentage, of all tested fetuses that have the variant, the test will find. Positive predictive value of a result is how likely your high chance result is to have correctly identified the baby as having Down syndrome. NIPT will pick up 99% of babies in some populations, although the bias of available studies has been questioned by the Warwick systematic reviewers. However, if you are a pregnant woman, interested in how likely your high chance result from NIPT is to be correct, then the positive predictive values range widely, starting about 46%, depending on your age and combined screening test results. There is a useful calculator here.
- Nuffield also recommended that private companies be regulated, and their advertising controlled by the Committee for Advertising Practice (6.39, Nuffield report). There are now CQC inspections, but it isn’t making much difference to the misleading information being given in the advertisements.
- Genetic counsellors remain few and far between, and despite Nuffield highlighting this as a need, (6.30, 6.36, Nuffield Report) little has been done. Some courses to train already stretched midwives have been offered, but this has hardly plugged the gap. ARC( Antenatal Results and Choices) are offered as a solution. However, they haven’t collaborated with Down syndrome charities, as was suggested, And, although, the Nuffield report found them to be non-directive, the following facts call the usefulness of their helpline into question:
- they were formally known as SAFTA, (Support After Termination for Abnormality);
- they have received donations from manufacturers of NIPT totalling £11,500 from 2014-2017;
- their booklets strongly orientate towards the difficulties of continuing your pregnancy and they offer no support groups for women continuing their pregnancy.
What is needed is an NHS helpline staffed by trained genetic counsellors to help patients process all the prenatal genetic information that is now available. This has been called for by the Down Syndrome Association. The need was also clearly demonstrated, by a case in the press recently, where a woman was given a high chance result from a private clinic for Turner syndrome, with all the associated worry and suggestions of invasive testing only to realise, after much research, that her result was approximately only 40% likely to be correct.
Some things have been done. For example, heads of screening in each NHS Trust have received training and Public Health England have revamped their Screening for You and Your Baby booklets and produced template letters for issuing test results. However, these are still not being used everywhere, with one woman recently receiving a letter saying “We are pleased to inform you that the blood test….. shows you are at low risk for Down’s syndrome’. What would they say to her friend whose child does have Down syndrome – commiserations?!
In this landscape it is very hard to see how women can make truly informed choices. And anyway, genetics do not tell you who your baby will grow up to be. They could be a famous actress like Sarah Gordy, or a Special Olympics swimmer like Shauna Hogan. They may marry the love of their life, like Maryanne and Tommy Pilling, have more complex needs that mean they need full time care, or like the majority, be somewhere in between. Everyone, including those with Down syndrome, are, thankfully, far more than their genetics.
Where does this leave us?
The NHS used to be for healthcare, but it is now far wider ranging than that. The technology is moving apace, and the UK is aiming to be at the forefront of the genetic revolution. We need to decide what place we will allow ethics to play in the face of this multi-million-dollar industry. And if we will allow ourselves to listen to the quieter minority voices of those whose communities are already being impacted.
Colette Lloyd is a speech and language therapist and mother to a young adult with Down Syndrome,