Ethics report on non-invasive prenatal testing raises questions of its own

The Nuffield Council of Bioethics' new report on non-invasive prenatal testing (NIPT) came with a press release: 'New pregnancy testing technique needs limits says ethics body', which in more than 1000 words could not muster more than two sentences on positive attributes of the 'breakthrough' technology (see News) .

NIPT is a safe, non-invasive technique that brings no risk of miscarriage and can provide accurate information earlier in pregnancy than is currently possible. It is, in the view of Genetic Alliance UK, a leap forward in the quality of information provided to women during pregnancy.

Alongside the press release, Nuffield have also produced 'key findings' (2 pages), a 'short guide' booklet (20 pages), and the full report (170 pages). As the detail increases, so does the balance and breadth of discussion. There are a broad range of applications of this technology: for testing pregnancies at known familial risk of rare genetic conditions; as a new component of prenatal screening programmes; to determine fetal sex; and, as we are in an era of growth in genomic technologies, as a route to understand far more detail about the fetus's genetic status.

The working group that published the report made the choice to use the term non-invasive prenatal testing (NIPT) for all uses of the technology. To date, it has been standard practice to use NIPT to refer to the screening use, and non-invasive prenatal diagnosis (NIPD) for its use in diagnostic tests for specific genetic conditions. The rationale for this choice is explained in detail in the full report, but we regret both the decision – as it makes the message far less clear – and its lack of visibility in shorter versions of the report.

We received the impression at the launch event that the working group felt that the use of the technology in the rare-disease context was a non-contentious accepted use, and that this is why the area of use has not been more prominent in coverage and summaries of the report. For such a new technique that is still not widely used or understood by the public, we believe the technology should continue to be presented and discussed in the round, with the various applications clearly delineated in discussion. If we do not do this, discussion of the risks associated with certain applications could damage public perception of the broader technology.

At the same launch event, we sought clarification on which qualities of NIPT  brought up ethical concerns that have not arisen (to the same degree) around other sources of information for women on their pregnancy. In the UK, the 8–14-week and the 18–21-week scans are well understood milestones at which fetal problems can be detected. They have not been labelled as posing a risk to societal attitudes to people affected by health conditions. During the scans, we monitor fetal movement, heartbeats and estimate weights. Again, these tests and information sources are not considered to pose an ethical challenge. It is current standard practice to use invasive tests when screening shows up chromosome abnormalities, but this practice is not usually considered to create a discriminatory environment.

We do not believe that non-invasive prenatal testing/diagnosis needs any limits that are not already applied to other sources of information about pregnancies – such as ultrasound, blood tests, and invasive prenatal testing.

The report also expresses the concern that women are not given a balanced description of conditions' impact on families – a concern that is not directly related to the technology under discussion. We always support efforts to ensure that accurate information is supplied to women making reproductive choices, but we do not see any evidence of systematic flaws or imbalances in the current provision of evidence.

Another central theme in the report, which was applied to both the use in screening and for diagnostic tests, was how people affected by genetic conditions feel when reproductive choices are made to avoid having a child affected by that genetic condition.

Patients, families, couples and women supported by Genetic Alliance UK's member groups view reproductive choice as one of the few ways they can take control of the condition affecting their family. For those at risk of having a child affected by a single-gene disorder, it is very rare to become aware of this risk without personal experience of the condition.

In some cases, one member of the couple making a reproductive choice will be living with that specific condition. A late-onset condition may not have become symptomatic yet, but they will have seen one of their parents and/or grandparents become ill because of the condition. Alternatively, a couple will have become aware that they are at risk of having a child with a recessive condition after having had a pregnancy and/or a child affected by that condition. They may be living with a child affected by the condition, grieving for a child who died from that condition, or dealing with the termination of a pregnancy affected by that condition.

Members of our team discuss techniques such as NIPT and NIPD with people who have used them, intend to use them or, in some cases, who regret that the technology did not exist in time for them. We hear the message again and again that they love and would do anything for their family member affected by that specific genetic condition, but that they cannot or could not have a child (or another child) affected by that condition.

The reasons for these views are specific to every individual situation. The way they deal with that view differs too. Some choose not to have any more children, some use reproductive-choice techniques to ensure that their next child is not affected. Some make an informed choice to have a child naturally. A minority in our member communities do not wish to use certain reproductive-choice techniques. All of these possibilities exist in the UK because we have a system built around choice.

There is no 'must' in Genetic Alliance UK's views on reproductive choice. We absolutely support anyone's reproductive decision in the context of genetic conditions. We disagree with those that believe there should be 'must nots' in this arena – who believe that others should not have a particular type of reproductive technique available to them. Those who do not believe in a particular approach to reproductive choice are free not to use it. We should remember the imbalance in these arguments: when we restrict reproductive-choice options, no one gets to use them; when we make reproductive-choice options available, it's an individual decision whether or not to take up that option.

These are some of the most difficult decisions and actions that women ever have to take. We should welcome new options and new sources of information that become available to the women who have to take these decisions.

Genetic Alliance UK was a partner in the RAPID non-invasive prenatal testing (NIPT) evaluation study.