Theme 1– HCPs sought to convey key information about the nature of NIPT
When offering NIPT, many HCPs interviewed here said they highlighted information related to the conditions NIPT tested for, its non-invasiveness, the implications of test results, test accuracy, NIPT not being diagnostic, the differences between screening and diagnostic testing, false positives and false negatives, the possibility of a test failure, issues related to the timing of the test, and considerations related to test financing. Many of these points of information—i.e., what was tested for, the specific accuracy figures, test timing, and financing—were all things that could change depending on the specific pregnancy, clinic, laboratory service used, and whether the interviewee worked for an NHS clinic or a private one. The following quotations demonstrate some of the topics listed above.
We felt it was important to give the full picture but be very clear what we could fund [sic] what we couldn’t fund [sic] and what were the potential limitations of non-invasive prenatal testing… Well, it’s not diagnostic. That’s obviously quite a key limitation. The test that we use only tests for trisomy 13, 18, and 21, so they’re not getting information about any other chromosomes, and we do not offer sex determination.
Interview 8, NHS screening coordinator
I think NIPT changes it slightly. It’s a longer part of the journey if the result comes back as a high-chance result… again, it’s about making sure that women are fully informed about the timescale and what they would be offered at each stage of the journey.
Interview 10, NHS deputy screening coordinator
Other quotations provided further below will demonstrate other points of information from the list of topics above.
Theme 2– HCPs varied in how they described the risks of NIPT
In discussing the risks and benefits of the test, some HCPs said they highlighted that the test has limited risk or no physical risk.
We tend to talk to women, let them know that it is an option, and if they have a high-risk test, then just really compare the risks of invasive, and obviously, there aren’t really any risks with the non-invasive as such.
Interview 3, NHS genetic counsellor
I say that it’s got the advantage of being a non-invasive test and therefore, they’re not putting the pregnancy at any risk.
Interview 4, NHS genetic counsellor
Others made the distinction between physical risk and informational risk and held the view that there was not any physical risk to the pregnancy but there might be some risk associated with test results.
NIPT doesn’t carry any of those risks of miscarriage [as an invasive test carries], but it carries the same risks [as invasive tests] of an unclear result or a failed result.
Interview 7, NHS obstetrician
Other participants wished not to use the word risk at all because of an anti-disability connotation that they suggest the word communicates. For example, to suggest a pregnancy was at risk of a trisomy would, in their view, be to assume that there was something inherently wrong with that condition. Instead, some participants used language to denote the ‘chance’ of certain anomalies, and they were careful not to label test results as good or bad news.
I think it’s really important that we use neutral terminology because we can’t assume that, that would be bad news for women, it just may be unexpected, but it’s not necessarily bad news, so we have to be very careful in our delivery, and then we ask them, we try to assess how they feel about that because for some women even if they had been told there’s a high-chance of Down’s syndrome, they may not wish to have a diagnostic test.
Interview 6, NHS midwife
By the way, the only other thing is that I still tend to use terms, mostly because it’s in my head, high-risk and low-risk when discussing with other healthcare professionals. But when we’re actually talking to patients, we talk about high-chance and low-chance. But it just slips back from a professional point of view.
Interview 12, Private obstetrician
Theme 3– HCPs said they stressed that decisions about test options were up to the patient
Most interviewees spoke about informing women of their full range of testing options, and several interviewees mentioned women could choose whatever options they like. The exact nature of testing options was not always described clearly in interviews. When options were described in interviews the term ‘option’ was understood a few different ways depending on the context and specific panel of conditions for which NIPT was used. Importantly here, in the context of common trisomies, five interviewees directly reported the options they provided to women after a positive first-tier screening test, which might typically precede NIPT. These options included [1] do nothing [2], have invasive, diagnostic testing, or [3] have NIPT.
We make that very clear to women that we have no expectation of what their decision is going to be and so we usually list the options as #1 do nothing, #2 consider testing which will give a 100% answer which is invasive to the pregnancy, or #3, and at the moment, consider self-funding a non-invasive prenatal test.Footnote 3
Interview 8, NHS screening coordinator
In most instances, interviewees agreed that women should be able to choose whatever options they wish. The ability for women to say ‘no’ to different options and ‘to do nothing’ was stressed by many participants.
Theme 4– NIPT was distinguished from other tests and described as a different category of test
Interviewees reported that in consultations with women, they described NIPT as different from other prenatal tests. HCPs compared first-tier testing with NIPT, describing NIPT as a screen that samples material or DNA that is more directly related to the fetus, rather than (as in first-tier testing) testing the woman’s levels of pregnancy hormones and structural measurements of the fetus.Footnote 4
I would also try to explain to them that we’re looking at very tiny fragments of cell-free fetal DNA, so it’s looking at that the sort of material of the baby rather than pregnancy hormones and numbers of incidence.
Interview 6, NHS midwife
I explain that in very basic terms but this other type of test called NIPT doesn’t look at what’s average because this is about you and your baby and frankly nobody else matters; it’s just you and your baby. What this test does is it looks at little fragments of your baby’s DNA that are there in your blood.
Interview 11, Private midwife
Participants’ descriptions of NIPT appeared to emphasise that the test analyses material more personal to the woman via the analysis of their own fetus’ genetic DNA; in contrast, HCPs described other screening tests using general incidence numbers or averages. This pattern of emphasis seemed to suggest that NIPT results were perceived as superior. Other claims of test superiority were more overt, though HCPs reported they were careful to emphasise NIPT as a screening and not as a diagnostic test, and to omit language relating to diagnostic testing:
With the patients, I don’t tend to use phrases like false positives or false negatives because it’s screening. It’s not really a false positive or a false negative, because that would imply a diagnostic result, so I don’t tend to use that type of phrasing… I do compare the NIPT quite a lot to the routine screening and say, you know, that’s quite good. This is better.
Interview 3, NHS genetic counsellor
Still other HCPs reported they make a distinction between NIPT and other tests in consultation by describing NIPT as an ‘advanced’ and more sensitive screening test compared to other screening tests, although also emphasising that NIPT did not provide a diagnostic result.
We’ll talk to them about the fact that it’s not a diagnostic test, but it’s an advanced screening test, and we’ll quote our lab statistics in terms of sensitivity or specificity, and that obviously, compared to the combined screening or the quadruple screening that they’re engaged with already, we’ll obviously explain to them that this is obviously a more sensitive test.
Interview 6, NHS midwife
In summarising the quotations under this theme, the way in which some interviewees said they describe NIPT to women suggested a possible new category of prenatal test for trisomy—an advanced screening test.
Theme 5– provision of information was predetermined by many HCPs and patient-led by others
Some HCPs indicated they pre-determined what information about NIPT to discuss and in what level of technical detail, without reference to the preferences of the patient in front of them. For example, one genetic counsellor’s view was that patients do not usually care about technical details therefore justifying their predetermined approach to use a basic, non-technical explanation for the majority of patients:
In my counselling I just explain how the test works… what it tests for, tells you and won’t tell you, and what it means, and what you can do with the information. That would be the focus, you know. Genetics is very interesting, but the bulk of our patients don’t really care how the science of the test works.
Interview 3, NHS genetic counsellor
Other HCPs reported a great level of technical detail in their explanations but similarly seemed to have pre-determined that this level of technical description was appropriate without reference to the patient in front of them.
And then when we explain the test to women, what we generally say is that the placenta sheds fragments of DNA into their blood stream and that continues during the pregnancy.… We talk about the laboratory being able to identify an over representation of DNA coming from a specific chromosome which is how the lab is able to arrive at a likely prediction that the baby is affected with one of the chromosome conditions. And we also discuss the fact that because this, the laboratory will also be looking at DNA that’s come from the mother, that the group of people who cannot have this testing would be people who’ve had the condition. So, for example, we would describe how the over representation of chromosome 21 DNA would be seen in a person who had Down’s syndrome and therefore if they had Down’s syndrome, they wouldn’t be able to have this testing.
Interview 8, NHS screening coordinator
Only some HCPs suggested a patient-led approach with regard to the provision of information, namely that they are sensitive to the patient in front of them and guided by her preferences and cues about how much and how technical the information provided could be. For example, one midwife reported that her approach was to let women and couples lead the consultation.
So, it’s about not making assumptions… giving them very straightforward, no-nonsense information about their options and then really follow their lead and direction, because obviously you don’t know quite how they feel or how much they want to know or prepare. So, it’s very personal from woman to woman, couple to couple. And just empowering them with the correct knowledge and accurate knowledge that they can make the next decision.
Interview 6, NHS midwife
Theme 6– HCPs held views about clarifying the non-diagnostic nature of NIPT
Several HCPs reported they took special care to clarify NIPT was a screen and not a diagnostic test to avoid harmful misperceptions which were hard to counteract.
I think the most important thing is you tell women it is not diagnostic.… it’s still screening, and it will give you a risk of, or chance of, it will not give you a definitive answer, because I think some women rely on it as a definitive answer, especially if it’s an increased risk… If you, for example, get an increased risk that comes back… a very knee-jerk reaction is the women want to say, ‘right, OK, if it has got Down’s syndrome, I don’t want to proceed with the pregnancy. I just want to have a termination’.
Interview 16, Private and NHS midwife
A particular negative consequence of such misperceptions was cited as a reactive decision to terminate a pregnancy based on a screening result (indicating increased risk or chance of a trisomy) rather than a firm diagnosis (actual trisomy). This suggests HCPs believed some women might want to treat NIPT as more definitive or clinically significant than it actually is as a way to manage uncertainty or process risks.
Some HCPs attributed issues in clarifying NIPT as non-diagnostic to difficulties in communicating the risk or chance of an affected fetus.
So, we talk about that your risk or your result may come back as unlikely to be affected or very low risk in the sense it’s 1 in 10,000, but your baby may still be in that percentage. That means the baby is affected. So, I think it is difficult to explain false positives and false negatives.
Interview 6, NHS midwife
A few HCPs reported how they tried to address the issue of risk communication using specific language such as ‘likelihood’ versus definitive statements.
If, however, you do that test… and they come back saying it looks very, very, very likely that baby is affected by this condition… you need to be clear that NIPT does not give a definite yes/no answer. Saying it is very, very, very likely is not the same as saying yes… So that’s how I present it to them.
Interview 11, Private midwife
Even though most HCPs felt the need to distinguish NIPT as non-diagnostic, the view of a few HCPs was that NIPT results should be reported as providing firm, diagnostic-level information.
For the trisomies 13, 18 and 21, the non-invasive prenatal testing and the invasive testing are equivalent in accuracy if you get an answer.… they are equivalent in accuracy, they are both 99.8% accurate in relation to diagnosis of the trisomy.… So, you would say, ‘NIPT shows there is a 99.9% chance that your baby has Down’s syndrome.’ So, for the purposes of this discussion, we will say, ‘your baby has Down’s syndrome.’
Interview 7, NHS obstetrician
And even clinicians too that we’ve come across were almost saying to women that ‘it’s as near diagnostic as damn it’.
Interview 19, Healthcare counsellor
In short, HCPs varied in whether they felt NIPT should be clarified as non-diagnostic or not. Some professionals also seemed to believe the distinction between screening results and diagnostic results was difficult for women to understand in the context of NIPT.
Theme 7– explaining NIPT accuracy to women
Among the reports of HCPs interviewed here, there was a pronounced focus on describing the accuracy of NIPT to women. Describing accuracy meant telling women about some of the statistical figures related to the test and it typically meant telling women about the high detection, sensitivity, and specificity rates of NIPT. Many HCPs reported the actual statistical figures they say they discuss with women.Footnote 5
The Down’s syndrome accuracy percent is 99, Edwards’ is 97 plus, and Patau’s is 87% plus. So, I just run through those numbers with them and check they’re kind of happy with that.
Interview 3, NHS genetic counsellor
I break it down and give them indiv—as a group it reports 99.9 risk detection. If you break it down individually, then it’s 99.9 for Down’s, I think it’s 97.3 for Edwards’, and 93.8 for Patau’s. So, I break it down individually—those are the rates—and that it will give you a combined risk of 99.9.
Interview 16, Private midwife
One frequently mentioned accuracy-related number that appeared in a majority of interviews was a ‘detection rate’ of 99%. The 99% figure was used to as a reason to explain why NIPT was a better test when compared to the combined test.
We would direct to the NIPT laboratory that we’re using at the moment, I think they’re approaching 99% accuracy for Down’s, and so we would try and talk a little bit about that and just really give them an idea of why this is considered a more advanced test.
Interview 6, NHS midwife
The reason for mentioning the 99 at all is pointing out the fact that 1 in 6 with Down’s syndrome are missed by the combined test, and it’s one of the reasons why the NIPT is a better test.
Interview 12, Private obstetrician
The above obstetrician therefore provided a reason as to why providing the 99% figure could be important for women. For him, it was pertinent to mention the 99% NIPT detection rate as it compares to the 85% detection rate of the combined test. Therefore, he made the case that when comparing the combined test and NIPT, the 99% statistic for NIPT is the appropriate comparator.
In contrast, there were some HCPs who came out against using the 99% figure. One clinical geneticist had concerns about how NIPT accuracy had been described within clinics, and he was especially bothered by the 99% figure and select accuracy figures that were used to promote the test.
As a measure of how good is this test at detecting Down’s syndrome or other autosomal trisomy, the accuracy of the test is completely, it’s a complete waste of time. But that’s the figure that most commercial people offering NIPT, that’s the figure they use. And that’s really hopeless.
Interview 2, NHS clinical geneticist
Thus, some HCPs believed that the 99% accuracy figure was misleading. Whilst there were reasons provided by HCPs above about why the 99% statistical figure should not be provided in consultations, others admitted to using the 99% figure themselves.