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.
Highlights
Technological developments have expanded the possibility to screen for rare diseases by increasing the availability of both treatments and tests in recent years
We argue that shifting perspectives on screening criteria for neonatal bloodspot screening (NBS) as well as carrier screening lead to converging debates in these fields
We show how dynamics in rare disease screening have challenged four screening criteria: treatment, test, target population and programme evaluation
Summary
Technological developments have expanded the possibility to screen for rare diseases by increasing the availability of both treatments and tests in recent years. In contrast to NBS public health programmes, the expansion of panels in carrier screening is currently mainly driven by commercial interests and not based on professional guidelines or defined criteria, resulting in a wide variety of tests covering hundreds of conditions (Chokoshvili et al 2018). Concerns exist regarding the possible impact of expanded carrier screening on people affected by genetic conditions, including a reduction of societal support, medical expertise and research funding associated with the declining numbers of people born with specified genetic conditions (Boardman and Hale 2018) Another new criterion that emerged with the revision of screening criteria by Andermann et al (2008) is that screening programme evaluation needs to be planned from the outset (Table 2). With the convergence of the debates, it would be appropriate to exchange views between stakeholders involved in both, or even aim to have the same experts at the table
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