A new article has been published in the European Journal of Human Genetics exploring the ethical and legal landscape of introducing genomic screening into existing newborn bloodspot screening programs. The authors pay particular attention to the idea of consent, and the delicate balance with which it must be considered against individual’s health rights.
Newborn screening (NBS) programmes play an important role in the early detection, diagnosis and treatment of disease, and are considered to be a critical group of public health interventions. Traditionally, NBS programmes have screened for a limited number of rare conditions. However, new and emerging genomic technologies have expanded the possible applications for NBS by opening the door to incorporating genomic sequencing.
Despite the potential individual and population health benefits of genomic NBS (gNBS), it also poses significant ethical and legal questions, particularly with regards to consent. While technological advances have lowered the barrier to screening for a larger number of conditions, the introduction of large-scale gNBS would represent a fundamental shift in the type and potential applications of data collected through NBS programmes. As such, current parental consent procedures do not adequately capture the realities and potential outcomes of gNBS. However, there is a lack of consensus surrounding what exactly would constitute an appropriate consent process. Different viewpoints on this topic are inextricably linked to debates over whether gNBS constitutes a form of clinical care, or a population health intervention.
Weighed against the question of consent is the right of the screened newborn to be identified, diagnosed, and treated. On this topic, the authors refer to legal considerations such as the UN International Convention on the Rights of the Child (1989), which codified the rights of children to be heard, to privacy, and to the highest attainable standard of health. This introduces complex questions about the legal obligation of health systems to perform NBS.
Overall, the ethical and legal issues surrounding the implementation of gNBS are numerous and complicated. As health systems move towards the use of genomic technologies in NBS programmes, extensive discussion needs to be had about what constitutes appropriate consent, what level of information parents should receive about screening, and what obligation governments have to screen newborns and to what extent.
(source: OrphaNews 18 September 2024)