24 October 2016
Tests to detect whether an unborn baby will be born with Down's syndrome have long been part of prenatal care in the UK. Current tests measure hormones and proteins in the mother's blood, and for those whose fetus shows a high risk of the condition, invasive tests are offered. This involves inserting a long needle into the amniotic sac or placenta, and carries a one to two percent risk of miscarriage.
The development of non-invasive, genetic-based alternatives has therefore attracted attention – not just from the medical community, but also from the general public. The recent BBC documentary A World Without Down's Syndrome? reveals that these developments aren't universally regarded as positive. Aside from the ethical issues that were touched on in the programme, there are other, practical concerns associated with these tests.
Non-invasive prenatal DNA testing (NIPT) for Down's syndrome doesn't increase the risk of miscarriage, and studies have shown it to be 99 percent accurate. The UK National Screening Committee has recommended that NIPT be adopted by the NHS, but it’s been privately available for several years to those who are willing (and able) to pay for it. In most cases, pregnant women must consult a doctor at a specialist private clinic who will order the test, take a blood sample, and deliver the results in person. Another option offered by a few UK companies is to buy the test online, independently of a medical professional. In this case, the sample collection kit isn't sent directly to the customer (unlike most direct-to-consumer DNA tests) but to their doctor, who will be required to take the blood sample. So, should NIPT be offered directly to the public? If so, what protections should be provided?
One of the major issues associated with NIPT is genetic counselling. While the few companies that offer NIPT online recommend that the customer ask their doctor about the test, the companies don't offer genetic counselling as part of the service. As this technology is still relatively new, and not yet available on the NHS, it's understandable that doctors may not be able to provide all the answers and shouldn’t be exclusively relied on to do so.
Genetic counselling before NIPT is purchased would ensure that expectant parents fully understand the potential implications and significance of the results, as well as exactly what the test involves and how accurate it is. The provision of counselling after receiving the results is even more important – studies estimate that over 90 percent of those who receive a prenatal diagnosis for Down's syndrome choose to terminate their pregnancy, illustrating the importance of an accurate interpretation of the results.
The relevant EU legislation that covers direct-to-consumer DNA tests is the IVD Directive (In Vitro Diagnostic Medical Devices Directive). As it currently stands, there is no requirement for genetic counselling to be provided with any type of direct-to-consumer DNA test. However, forthcoming updates will require genetic counselling to be offered with DNA tests for untreatable conditions, which will include Down's syndrome, and therefore NIPT. Updates to the IVD Directive are due to go through in 2017 but may be delayed until 2018, and after Brexit there's no guarantee that the UK will regulate DNA tests accordingly.
Until companies selling online NIPT are required by law to provide genetic counselling to customers purchasing the tests, the significance of a positive result for Down’s syndrome raises an important question: should companies be prevented from offering NIPT for untreatable conditions before the updated IVD Directive takes effect?
The companies that currently sell NIPT online appear to have some reassuring protections in place. An informed consent form must be signed by the participant, which contains information about the purpose, procedure and potential results of the test. They also specify that, as well as sending the sample collection kit sent directly to the customer’s doctor, they will also return the results to the doctor. This means that customers must book a consultation with their doctor in order to receive their results, ensuring that they don’t interpret the results alone.
These provisions are promising and rival those of private clinics, which often charge higher prices and are only available in certain locations. But it's not difficult to imagine a customer who completes a consent form without truly understanding it, therefore without demonstrating informed consent. Coupled with the fact that the customer's doctor is unlikely to have the skills to conduct genetic counselling, this leaves the customer exposed to potentially life-changing information without the appropriate support.
It should be noted that an important advantage of online NIPT is the increased availability and affordability it offers, allowing wider access to the service. The way in which this market develops will likely depend on whether the NHS begins to offer NIPT as part of standard prenatal care. With pressure from Down's syndrome advocacy campaigns such as Don't Screen Us Out, this isn’t a forgone conclusion, but if NIPT isn't conducted by the NHS as standard, the popularity of online tests is likely to increase.
Competition will bring prices down and provide wider access to NIPT for Down’s syndrome, but until the IVD Directive is updated and enforced, I believe that selling this service online comes with too great a risk. The news that your baby has Down’s syndrome can be surprising, overwhelming and even devastating, and imparting this news is a great responsibility that must not be taken lightly.