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

Abstract

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public’s perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23–72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public’s views and preferences to inform the delivery of a gNBS program in the Australian context.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Looking to the future, studies were also reported on the candidate conditions ALD [ 423 ] and DMD [ 424 ], and the Medical Services Advisory Committee recently announced their recommendations to add ALD and SCD to the Australian NBS panel [ 425 ].PD screening was proposed to the Australasian Standing Committee for Screening in 2018 but was not approved prompting publication of a report of PD screening activities in support of NBS [ 426 ]. The possibility of NBS for chromosome 15 imprinting disorders using genetic techniques [ 427 ] along with the knowledge and attitudes of Australian parents and health professionals towards genomic sequencing in NBS [ 428 ] and public perspectives on the risks, benefits, and preferences for implementation of gNBS [ 429 ]. A 2023 report notes that the addition of genomic sequencing into population-wide NBS will invariably expand the knowledge of treatable rare diseases, potentially benefiting health over a lifetime.…”

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

“…Focus groups will explore public preferences and perspectives for (1) implementation of gNBS, (2) risks and benefits of gNBS and (3) use of data generated by gNBS as a lifetime resource and will involve qualitative exploration through facilitated discussion to elicit characteristics of gNBS delivery. 26 Outcomes from the focus groups will be used to inform the implementation phase of the study. The DCE surveys will elicit public preferences, values and priorities for gNBS to support the economic evaluation and implementation of gNBS in Australia.…”

“…The preimplementation phase of the study involved extensive consultation with the public via focus groups 26 and DCE surveys. These have informed the design of the implementation phase.…”

“…The preimplementation phase of the study involved extensive consultation with the public via focus groups 26 One study-specific question exploring the reasons for declining. Participants are presented with 11 reasons and asked to rate how much each one influenced their decision on a scale of 1 (did not influence) to 5 (strongly influenced).…”

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges

“…Low [11] High [12] Relative public acceptability High [13] Mixed [14][15][16] Opportunities DBS 3 for retrospective epidemiological studies [17] Building on existing NBS workflows [18][19][20] Closer to phenotype [21,22] Ability to screen multiple conditions at once [23] Possibility of new biomarker discovery [24,25] Applicable to any condition type as a single test [26][27][28][29] Up-front molecular diagnosis [30][31][32] Lifetime re-use of data (WGS) [31,33] Enabling research into genedisease associations, treatment developments, population variation, and pharmacogenetic variation [31,[33][34][35][36] Challenges Feature characterization and data interpretation [37,38] May not be suitable for all condition types [23] Custom validation for each targeted condition [39][40][41] Need for sufficiently large validation cohorts [42] Consensus of which genes/variants to report [28,29,43] Possibility of identifying adultonset conditions/variants [44][45]…”