The Nuffield Council on Bioethics in the U.K. has recently released a report expressing their concerns about non-invasive prenatal testing (NIPT) and how it is being sold by private providers. Moreover, the new report calls for a moratorium on the use of NIPT in sequencing the whole genome of fetuses for finding out the sex of the fetus. The full report can be downloaded on the organization's website.
NIPT is currently available in the U.K. through private hospitals and clinics, and in some NHS hospitals. Last year, the U.K. government announced that starting in 2018, the NHS would offer NIPT to pregnant women who have been found through initial screening to have at least a 1 in 150 likelihood of having a fetus with Down's, Patau's or Edwards' syndromes. Its introduction should mean fewer false results and fewer diagnostic tests, which carry a small risk of miscarriage. The use of NIPT for testing for Down's syndrome attracted considerable media attention last year.
This type of genetic testing is a breakthrough in prenatal screening, as well as testing for a range of genetic conditions. It uses a blood sample taken from the pregnant woman and can be done from 9 or 10 weeks of pregnancy. It analyses DNA from the placenta that circulates in the woman's blood to estimate the chance that the fetus has Down's, Edwards' or Patau's syndromes. It can also be used to diagnose other genetic conditions, such as cystic fibrosis and achondroplasia; or to determine the sex of the fetus.
The Council considered, at this early stage of its use, how NIPT could change the way we view pregnancy, disability and difference, and what the wider consequences of its increasing use might be. The report recommends that NIPT should only be used for significant medical conditions and impairments that affect the child at birth, or in early life, as this information can allow women and couples to make meaningful reproductive choices.
“We support the introduction of this test for Down's syndrome on the NHS next year, so long as it is accompanied by good balanced information and support,” noted Tom Shakespeare, Ph.D., chair of the Nuffield Council's Working Group on NIPT and professor of disability research at the University of East Anglia. “But, if the test is used without limits for other kinds of genetic conditions and traits, it could lead to more anxiety, more invasive diagnostic tests, and could change what we think of as a 'healthy' or 'normal' baby. We, therefore, think the test should generally be used only for significant medical conditions that would affect a baby at birth or in childhood.”
Dr. Shakespeare went on to add “That's why we are calling for a moratorium on its use in sequencing the whole genome of the fetus. We also strongly believe there should be a ban on its use to find out the sex of the fetus, as this could lead to sex-selective abortions.”
The Council noted that NIPT should not normally be used for less significant medical conditions and impairments, for those that appear in later life, or for non-medical traits (such as sex). Information on all of these kinds of genetic features, and more could be obtained if NIPT was used to sequence the whole genome of the fetus. The Council is calling for a moratorium on the use of NIPT for whole genome sequencing and a ban on its use in finding out the sex of the fetus.
Their key reasons for these restrictions are:
- The current uncertainty about the significance of many genetic changes
- The lack of medical benefit to knowing about many genetic changes
- The risk the mother may have a termination or become unduly anxious, because of this early information
- The right of a future child to find out their own genome for themselves
“Although we heard of examples of good practice, the information currently provided to women and couples by the private sector is frequently incomplete, unsubstantiated, inaccurate or misleading, and sometimes uses emotive language,” remarked Louise Bryant, Ph.D., member of the Council's Working Group on NIPT and associate professor of medical psychology at the University of Leeds. “We are concerned that some private providers may give out information that emphasizes the accuracy of the test but does not make clear its limitations. We are concerned that some women are not being supported well enough to make informed decisions, and that some private services may be failing to provide adequate aftercare for those with positive NIPT results.”