Informed consent to non-invasive prenatal testing: findings from a qualitative study in Lebanon and in Quebec

Non-invasive prenatal testing (NIPT) was first introduced in 2011, when breakthroughs in sequencing technology allowed the analysis of cell-free fetal DNA (cffDNA) in maternal blood to detect genetic abnormalities in the fetus, such as trisomy 21 (Down's syndrome), with greater accuracy than previous screening tests. It therefore reduces the need for invasive diagnostic tests such as amniocentesis and chorionic villus sampling. 
 
The introduction of NIPT into antenatal clinics has raised, among other things, challenges related to informed consent. For instance, the literature discusses how the clinical benefits of NIPT (including non-invasiveness, better reliability and earlier detection) might erode informed consent. The concern is that in the absence of risk to the pregnancy, and considering the benefits of the test, clinicians will not dedicate much time or attention to discussing it with women, and will offer it as a routine, safe test that does not merit an elaborate consent process. 

In this piece, we report findings from our qualitative study of pregnant women and their partners in Lebanon and in Quebec, Canada, regarding informed decision-making about NIPT and verbal vs written consent. The study was published in AJOB Empirical Bioethics. We chose these two countries to illustrate how the different socio-cultural factors might play a role in shaping pregnant women and partners' views related to the information they might want about NIPT and any consent forms used.

What information about NIPT is needed for informed decision-making?

We first asked participants in our study to reflect on the information they thought should be discussed during pre-test counselling, to enable them informed decision-making regarding NIPT. 

We found that pregnant women and their partners in both countries wanted to know about how the test worked, whether or not it was non-invasive, what the risk of miscarriage was, how accurate it was, and how it compared to other prenatal tests; particularly to maternal serum screening and amniocentesis. Further, they were interested to know whether it was considered as a screening or diagnostic test and what conditions it can and cannot detect. With regards to the results, participants emphasised the need to be informed about results' turnaround time and the next steps following a negative or a positive result. 
 
Finally, participants considered it crucial to have information on the cost of NIPT and the availability of coverage whether by the healthcare system or by insurance companies. 

Consent form: written vs verbal

Significant differences were found when we asked participants about the way they preferred to provide their consent, verbally or in writing, following pre-test counseling. The majority of Quebecois participants preferred to document their decision in writing, while the majority of Lebanese participants preferred verbal consent. 

In Quebec, participants considered a written consent as a 'legal protection' for both pregnant women and healthcare professionals. Lebanese participants stated that a verbal consent is sufficient because the 'test is non-invasive', 'it does not hold any risk to the mother or the fetus' and 'it is a blood test that should be treated like any other blood test performed during pregnancy'. Although they acknowledged the legal aspect of a written consent as a 'binding document between two parties', they did not see the need for it and argued that there is no difference between a written and a verbal consent, since 'it is a matter of trust between them and their physician'.

Hence, Lebanese participants assign moral value to consent, while Quebecois participants emphasise its contractual value. These differences seem to be related to cultural contexts: in Quebec pregnant women are generally required to sign a consent form when they take a decision related to prenatal testing including screening and diagnostic tests, unlike in Lebanon, where pregnant women don't sign a consent form for screening tests, which could therefore explain the tendency for considering a verbal consent. 

It should also be noted that regardless of the value attached to it, signing a consent form is one, among many other aspects of the informed consent process, that is influenced by the socio-cultural and policy contexts in each country.

Finally, whether verbal or written, we argue that informed consent for NIPT is not achieved solely by signing a legally appropriate form or by providing verbal confirmation. It requires two levels of obligations on the part of healthcare professionals: communicating relevant information about the test (risks, benefits, outcomes, and options) that enables an informed decision on whether to accept or reject testing; and ensuring this information has been understood and retained. 

Moreover, the consent process calls for an opportunity to consider how this information aligns with one's values and preferences. This can be achieved through a conversation, with the help of decision-aid tools, or – in the future – through online resources that support the decision-making process.