Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

Abstract

The introduction of genomic sequencing technologies into routine newborn screening programs in some form is not only inevitable but also already occurring in some settings. The question is therefore not “if” but “when and how” genomic newborn screening (GNBS) should be implemented. In April 2022, the Centre for Ethics of Paediatric Genomics held a one-day symposium exploring ethical issues relating to the use of genomic sequencing in a range of clinical settings. This review article synthesises the panel discussion and presents both the potential benefits of wide-scale implementation of genomic newborn screening, as well as its practical and ethical issues, including obtaining appropriate consent, and health system implications. A more in-depth understanding of the barriers associated with implementing genomic newborn screening is critical to the success of GNBS programs, both from a practical perspective and also in order to maintain public trust in an important public health initiative.

Australian public perspectives on genomic newborn screening: which conditions should be included?

“…However, its costs are low, at less than $5 per infant, including downstream costs [ 26 ]. gNBS is likely to be at least 50 times more expensive [ 5 ]. Despite knowing this, in focus groups, participants demonstrated strong preferences for gNBS to be publicly funded to mitigate potential inequities and to benefit the taxpayer overall by saving healthcare costs in the long term.…”

“…However, some have suggested that the Wilson and Jungner criteria are outdated in the genomics era, as they rely on decisions being made on a condition-by-condition basis [ 4 ]. In reality, the vast number of conditions that could be screened using genomic sequencing makes this case by case model impractical moving forward [ 5 ]. The evolving clinical landscape and growing interest and availability of genomic sequencing technologies has prompted reconsideration of the appropriateness of these criteria in the modern age since these technologies were introduced [ 4 ].…”

“…When considering the inclusion of genomic sequencing in NBS programs, it is tempting to adopt a ‘bigger is better’ approach to identify as many conditions as possible as early as possible. However, the more conditions screened, the more complex the technical, psychosocial and ethical aspects become [ 5 ]. Therefore it is critical that decisions about which conditions to include in gNBS should consider both expert and public opinion [ 5 ].…”

“…However, the more conditions screened, the more complex the technical, psychosocial and ethical aspects become [ 5 ]. Therefore it is critical that decisions about which conditions to include in gNBS should consider both expert and public opinion [ 5 ]. We aimed to explore the Australian public’s preferences and perspectives on increasing the number of conditions screened in NBS programs using genomic sequencing.…”

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

“…Today, NBS programs around the world are highly successful, operating in many countries at relatively low cost with near-universal uptake [ 5 ]. The level and detail of informed consent required for traditional NBS varies by jurisdiction; in many countries, consent for traditional NBS is implied [ 6 ], yet overall, population trust and uptake remain high [ 7 ].…”