In January of this year, the UK National Screening Committee recommended implementation of non-invasive prenatal testing (NIPT) screening in pregnancy for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. NIPT uses the small amount of the fetal cell-free DNA which can be found circulating in a pregnant woman’s blood, to test whether that fetus is likely to be affected by a genetic condition.
However, due to a number of areas of uncertainty in the evidence, the UK NSC recommended introducing the test on an evaluative basis, with input from scientific, ethical and user expertise. This is to better understand the impact on women, their partners and the existing NHS Fetal Anomaly Screening Programme if women and their partners are offered the option of NIPT following a screening test result showing a risk of 1 in 150 or more of having a baby with a trisomy.
As part of this process, the Nuffield Council on Bioethics held an online call for views and evidence on the ethical, legal and regulatory implications of the increasing availability and use of non-invasive prenatal testing in the UK, having regard to its use in both NHS and commercial services, including for whole genome/exome sequencing.
Genetic Alliance UK responded to this call for evidence, welcoming the UK NSC recommendation to introduce non-invasive prenatal testing as part of the National Health Service, which represents a step towards further equality in reproductive autonomy.
NIPT for aneuploidies demonstrates significant benefits over the existing screening pathway for Down syndrome, Patau Syndrome and Edwards Syndrome. The earlier diagnosis (from 10 weeks gestation rather than 11-14 for chorionic villus sampling and 16-22 for amniocentesis) allows the woman more time to think about what is the most appropriate decision for her. Inclusion of NIPT as recommended within the existing screening pathway results in substantially improved sensitivity and specificity. This would lower the number of women with an unaffected pregnancy undergoing invasive testing, leading to a reduction in procedure-related miscarriages of unaffected fetuses. At the same time, detailed health economic analyses carried out by the UK NSC suggest that implementing NIPT as recommended would result in little extra cost to the NHS, or may in fact be cost neutral.
It is also useful to consider NIPT in the context of the other technologies being developed to improve reproductive autonomy, as well as within the broader environment of healthcare. Viewed in the context of the existing Down syndrome screening programme, which is widely supported by women and their partners, NIPT is simply a refinement of what is already offered, but with increased accuracy and reduced risk.
However, a key issue for implementing the UK NSC recommendations is likely to be relating to the need for appropriate information provision and genetic counselling support for women and their partners. It is vital that NIPT is offered in the presence of appropriate, detailed and non-directive counselling, which impresses on couples thinking about undertaking NIPT the impact that the results of this test may have on their lives, and support s the woman or couple in making an informed decision consistent with their values.
This will be even more important as use of NIPT expands out beyond the aneuploidies, to single gene disorders and even whole genome/exome sequencing .The rapid implementation and evolution of NIPT raises serious concerns about the capacity of the NHS to provide women with appropriate support in accessing this service, both in terms of availability of appropriate staff, and time commitment.
We consider the key benefit of the increasing availability and use of NIPT for people living with genetic conditions to be providing an additional tool for reproductive choice to those at risk of having a child affected by a genetic condition, whether due to a family history of a disorder or factors such as maternal age. There is an important distinction to be made about the purpose of NIPT, which is to enable women to make autonomous reproductive choices and not to prevent the birth of affected children. Genetic Alliance UK welcome any reproductive technique or diagnostic tool which gives women more control over the impact of genetic conditions on their family.