NIPT for significant medical conditions and impairments
Women and couples should be able to access NIPT to enable them to find out at an early stage of pregnancy, if they wish, whether their fetus has a significant medical condition or impairment that manifests at birth or in childhood. This information can be clinically useful and enable women and couples to have meaningful reproductive choice. However, we believe that it should only be available within an environment that enables women and couples to make informed choices, and where steps are taken to minimise potential harms.
The Government has a duty to provide disabled people with high quality specialist health and social care and to tackle discrimination, exclusion and negative societal attitudes experienced by disabled people. This is important for offsetting the potential harms posed by the use of NIPT for significant medical conditions or impairments to disabled people and their families. Women and couples will be better able to make genuine choices about their pregnancies if all disabled children are actively welcomed into the world and valued as the equals of those without disabilities.
NIPT should only be offered if it provides an accurate prediction of whether a fetus has the condition or impairment that is being tested for. Private providers should stop offering NIPT for conditions where test performance is poor or unknown, such as NIPT for some microdeletions.
We support the introduction of NIPT for Down’s, Edwards’ and Patau’s syndromes in the NHS for women who have been found to have at least a 1 in 150 chance of having a fetus with one of these conditions. Given the higher rate of false positives when NIPT is used in the general population of pregnant women and the significant failure rate of NIPT, we believe offering it to women only in the higher chance category is a proportionate approach.
All providers of NIPT for significant medical conditions or impairments have a responsibility to provide high quality information and support. NIPT should only be offered in a healthcare setting by health care professionals with the knowledge and skills needed to support women and couples to make informed choices. High quality education and training must be compulsory for all health and social care professionals involved in NHS prenatal screening. Accurate, balanced and non-directive information should be readily available to women and couples in accessible written and multimedia formats. This information and training should be developed with the support of those with genetic conditions or their families.
To ensure NHS patients receive the information and support they need to make decisions relating to NIPT for rare genetic conditions, it will be important for the NHS to ensure it has sufficient genetic counselling resources.
As the only prenatal testing support organisation to which the NHS directs pregnant women, it is important that Antenatal Results and Choices (ARC) provides balanced, non-directive and impartial advice to parents, and balanced information via training to health professionals.
A number of private providers of NIPT in the UK are currently not meeting their obligations to offer good quality information and support to pregnant women and couples. We suggest that providers in the private sector should be encouraged to seek certification from recognised information quality schemes, such as NHS England’s Health Information Standard, to help women and couples know that their information has been quality checked.
The Committee on Advertising Practice should pay closer attention to the advertising practices of NIPT manufacturers and providers to ensure that they are not misleading, harmful or offensive.
Private hospitals and clinics should only offer NIPT as part of a package of care that should include, at a minimum, counselling before and after testing and follow-up diagnostic testing where this is required. NIPT should not be available on a direct-to-consumer basis unless it is offered as part of this package.
NIPT for other conditions and variations
In the future, NIPT may open up possibilities for testing fetuses for a much wider range of genetic conditions and variations than is currently possible at an early stage of pregnancy. It is important for policy makers to be prepared and consider the potential consequences of these developments.
Having weighed up the potential benefits and harms, and the wider societal consequences, we believe that NIPT should not generally be used:
- to test whether a fetus has a less significant medical condition or impairment;
- to test a fetus for a condition that will not affect the future person until adulthood; or
- to find out whether the fetus is a carrier of a gene for a medical condition or impairment; or
- to reveal non-medical features such as sex.
Although some women and couples might like to have this information, we believe that in most cases it would not be medically useful and would undermine the capability of the future person to make their own choices about accessing their genetic information. An exception might be posed by women and couples with a family history of an extremely serious adult-onset condition, such as Huntington’s disease, who want to find out if their fetus will develop the condition, if there is no treatment available and if termination of pregnancy is an option.
The ability of NIPT to reveal the sex of the fetus at a much earlier stage increases the risk that terminations on the basis of sex could take place. The Working Group believes this will in most cases be based on discriminatory attitudes. If NIPT for sex determination continues to be available in the UK, there is a real possibility that sex selective terminations may be encouraged within the UK, both among UK residents or through ‘sex selection tourism’. We recommend that NIPT providers should not offer sex determination of fetuses.
Whole genome sequencing
Our reasons for recommending that NIPT normally should not be used for less significant medical conditions or impairments, adult onset conditions, carrier status or non-medical features also apply to whole genome sequencing, which would reveal this information and more – much of which would be difficult to interpret. The prospect of whole genome sequences of fetuses being generated and stored raises additional concerns relating to the rights of the future person, given that information we are not currently able to interpret may be analysed and understood in future. We recommend that the use of NIPT for whole genome sequencing of fetuses should not be offered outside research environments, and that the Government should consider establishing a moratorium with NIPT manufacturers on the use of NIPT for whole genome sequencing.
There may be rare exceptions when it is appropriate to use NIPT for whole genome sequencing, for example to assist in obtaining a diagnosis when it is suspected that a fetus has a serious medical condition or impairment but the cause is unknown.
Guidance for practitioners
There is currently no professional guidance on NIPT in the UK healthcare context. We recommend that the relevant Royal Colleges and other professional bodies work together to produce guidance for health and social care professionals on the availability and provision of NIPT.
We further recommend that the guidelines of the Royal College of Obstetricians and Gynaecologists on termination of pregnancy for fetal anomaly should be renamed immediately to make it clear that they also cover continuation of pregnancy after an anomaly has been diagnosed in the fetus and that this section is significantly expanded, or additional guidelines created. For example, it should be emphasised that where there is a high chance that the fetus has a particular condition, women and couples should have access to expert advice, including from those with a first-hand knowledge of what life is like for children and adults with the condition and their families. We also recommend that NICE should produce clinical pathway guidance on continuation of pregnancy after diagnosis of fetal anomaly.
For more information, see Chapter 6 of the full report