Nuffield Council and BBC report spur change

The Nuffield Council on Bioethics, a UK-based group that issues carefully considered (though not legally binding) reports on bioethics issues, made a number of important recommendations regarding prenatal testing in its 2017 report, Non-Invasive Prenatal Testing (NIPT). In a blog post nearly two years later, however, the Council expressed dismay that so little action had been taken to alleviate their concerns. Remarkably, that blog post and a troubling BBC report issued the same day have apparently led to some important changes in just a few months.

Cell-free DNA screening (cfDNA, aka NIPS/NIPT) is offered in the UK’s National Health Service (NHS) only in limited areas, and only to pregnant women who have a “higher chance” of fetal aneuploidy. But as in the US, there are private services that offer cfDNA to any pregnant woman who is willing to pay out-of-pocket. The Nuffield Council expressed concern in February that, although the NHS provides cfDNA in ways that largely align with Nuffield’s recommendations, private providers in the UK often don’t.

nuffield-niptstatistics

Nuffield’s concerns include both the technical features of the test and the information and support that’s provided to patients. As in the US, private companies that market cfDNA often tout its accuracy in misleading ways, and the excerpt above from their February blog post clearly explains why advertising cfDNA as “99% accurate” is not just misleading – it’s completely meaningless. Nuffield also found it troubling that, for some conditions, cfDNA offers such low positive predictive value that results are unhelpful at best. And, as we at PIRC have often noted, the Nuffield Council expressed concern about a lack of information about tested conditions, including referrals for support/information when parents receive screen-positive results.

That’s why it’s so encouraging that today’s blog post from the Nuffield Council reports progress in these areas. The Royal College of Obstetricians and Gynaecologists (RCOG) is commissioning two new guidelines on cfDNA, which will provide much-needed standards for clinical providers. The UK Advertising Standards Authority is investigating the ways that private clinics advertise cfDNA. A large private provider of cfDNA has stopped offering it for sex chromosome aneuploidies and microdeletions, conditions for which its predictive value is low and often poorly documented. And the NHS has updated their online information on Down syndrome (DS) with help from a respected DS advocacy organization.

There’s more to be done, of course, but some of these changes are sorely needed in other countries, including the US. Our recently published article on the poor adherence by commercial laboratories to the ACMG guidelines points to the need for more accurate information, limits on testing for conditions with too little supporting data, and significantly more patient-facing information and support regarding genetic conditions. We’re happy that some companies have contacted us with updated materials for review, and we’re seeing some improvement in adherence. To see where things stand, take a look at our summary table, which we continue to update:

Table of adherence to 2016 ACMG guidance for NIPS laboratories

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