Genomic newborn screening – ethical questions and practical challenges

Česká verzia

Authors: Franková Věra ^1,2; Ješina Pavel ²
Authors place of work: Ústav humanitních studií, v lékařství, 1. lékařská fakulta, Univerzita Karlova, Praha ¹; Klinika pediatrie a dědičných, metabolických poruch, 1. lékařská fakulta, Univerzita, Karlova a Všeobecná fakultní, nemocnice v Praze ²
Published in the journal: Čes-slov Pediat 2024; 79 (6): 349-452.
Category:
doi: https://doi.org/10.55095/CSPediatrie2024/025

Summary

The aim of newborn screening (NBS) is to identify newborns with serious but treatable diseases before the onset of clinical symptoms. Declining costs and improvements in genome sequencing technologies have led to consideration of expanding the NBS programme to include a number of other rare genetic diseases that can now be identified by sequencing large regions of the genome. Incorporating genome sequencing into the programme will place high demands on the whole NBS system. It will be necessary to build the infrastructure to ensure informed consent, manage the large increase of genomic tests and their rapid execution, provide comprehensive multidisciplinary care for asymptomatic individuals, design appropriate systems for storage and access to genomic data, and ensure appropriate evaluation of the programme. In addition, genomic NBS would offer opportunities to extend the analysis to diseases whose inclusion does not primarily fulfil the aims of a screening programme. These include, for example, nontreatable diseases, diseases with onset in adulthood or detection of asymptomatic carriers for various genetic diseases. The ethical issues raised by genomic NBS are mainly related to the issues of informed consent and privacy. It is also necessary to balance the benefit and the potential harm to the individual that can arise from the findings of genomic sequencing. All of these issues need to be adequately discussed and addressed prior to the introduction of genomic sequencing into the NBS program.

Keywords:

Genetic diseases – Genome sequencing – newborn screening – rare diseases – genomic data – ethical questions

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