Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide
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ORIGINAL ARTICLE
Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide Martina C. Cornel 1
&
Tessel Rigter 1
&
Marleen E. Jansen 1
&
Lidewij Henneman 1
Received: 5 May 2020 / Accepted: 14 October 2020 # The Author(s) 2020
Abstract Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and β-thalassaemia. NBS’s primary aim is health gain for children, while carrier screening enables autonomous reproductive choice. While screening can be beneficial, it also has the potential to cause harm and thus decisions are needed on whether a specific screening is worthwhile. These decisions are usually based on screening principles and criteria. Technological developments, both treatment driven and test driven, have led to expansions in neonatal screening and carrier screening. This article demonstrates how the dynamics and expansions in NBS and carrier screening have challenged four well-known screening criteria (treatment, test, target population and programme evaluation), and the decision-making based on them. We show that shifting perspectives on screening criteria for NBS as well as carrier screening lead to converging debates in these separate fields. For example, the child is traditionally considered to be the beneficiary in NBS, but the family and society can also benefit. Vice versa, carrier screening may be driven by disease prevention, rather than reproductive autonomy, raising cross-disciplinary questions regarding potential beneficiaries and which diseases to include. In addition, the stakeholders from these separate fields vary: Globally NBS is often governed as a public health programme while carrier screening is usually available via medical professionals. The article concludes with a call for an exchange of vision and knowledge among all stakeholders of both fields to attune the dynamics of screening. Keywords Neonatal screening . Genetic carrier screening . Rare diseases . Carrier state . Expanded screening . Treatment . Technology . Screening criteria . Reproductive autonomy
Introduction Technological developments have expanded the possibility to screen for rare diseases by increasing the availability of both treatments and tests in recent years. As a result, a larger number and broader range of diseases have been added to neonatal bloodspot screening (NBS) and carrier screening worldwide. While the expansion of screening could be beneficial, it also has the potential to cause harm. To balance screening benefits and potential * Martina C. Cornel [email protected] 1
Clinical Genetics, Section Community Genetics, Amsterdam Public Health Research Institute, Amsterdam Reproduction and Development Research Institute, Vrije Universiteit Amsterdam, Amsterdam UMC, De Boelelaan 1117, Amsterdam, The Netherlands
pitfalls, policy makers traditionally developed screening programmes based on a set of defined principles an
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