24 July 2016
The UK National Screening Committee (UKNSC) has recommended that NIPT for Down Syndrome, Patau Syndrome and Edwards Syndrome be offered on the NHS to pregnant women whose babies are found to have a high risk of having one of these conditions following the 11-14 week screening tests.
The UKNSC has proposed that this should be implemented as part of an evaluation process to understand better how offering NIPT in this way will affect the screening pathway and the choices that women make.
PHG Foundation was the first in the UK to explore the potential of NIPT for use in the UK NHS1 and we have longstanding expertise and interest in this area. We would like to emphasise two key points relevant to many of the consultation questions:
A. We regard the implementation of NIPT for aneuploidy as proposed as a safe and measured approach enabling equitable access to pre-natal testing across England. Subject to approval from the Secretary of State for Health, it will be the first national publicly funded routine NIPT service worldwide and will provide a significant improvement in the quality and safety of the current aneuploidy testing pathway. We therefore support the introduction of this application of NIPT. However, in order for effective and consistent implementation, it is important that sufficient resources are provided.
B. Our view is that NIPT as applied to aneuploidy screening should be regarded as a novel, but not exceptional, biomarker test. As such, the approach taken by policy makers and regulators should be consistent with other tests, and seek to avoid overemphasising the potential harms associated with the technology. In places, the content and structure of the consultation questionnaire encourages such an exceptionalist approach which could bias responses.