Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

Abstract

Since the introduction of genome sequencing in medicine, the factors involved in deciding how to integrate this technology into population screening programs such as Newborn Screening (NBS) have been widely debated. In Australia, participation in NBS is not mandatory, but over 99.9% of parents elect to uptake this screening. Gauging stakeholder attitudes towards potential changes to NBS is vital in maintaining this high participation rate. The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs. Participants were surveyed online in 2016 using surveys adapted from previous studies. The majority of parents (90%) self-reported some knowledge of NBS, with 77% expressing an interest in NBS using the new technology. This was significantly lower than those who would utilise NBS using current technologies (99%). Although, many health professionals (62%) felt that new technologies should currently not be used as an adjunct to NBS, 79% foresaw the use of genomic sequencing in NBS by 2026. However, for genomic sequencing to be considered, practical and technical challenges as well as parent information needs were identified including the need for accurate interpretation of data; pre-and post-test counselling; and appropriate parental consent and opt-out process. Therefore, although some support for implementing genomic sequencing into Australian NBS does exist, there is a need for further investigation into the ethical, social, legal and practical implications of introducing this new technology as a replacement to current NBS methods.

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

“…Our data support the general trend that views of the public about gNBS are less conservative than those of health professionals, who frequently report that gNBS is not currently ready for population-wide implementation [ 13 , 49 , 61 , 62 , 63 ]. Previous qualitative work also shows that while Australian healthcare professionals do not feel it is currently appropriate to incorporate genomic sequencing into NBS, they believe it will be implemented in the next decade [ 13 ].…”

“…In Australia, NBS is voluntary and free for all infants, with uptake being close to 100% [ 49 ]. For gNBS, parents are likely to require more information to ensure that consent is informed and to maintain such high trust and coverage [ 7 ].…”

“…Some work has been conducted using a variety of methodologies exploring parents’ and the public’s preferences and perspectives on gNBS in the US [ 20 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 ], Canada [ 42 , 43 , 44 ], the UK [ 45 , 46 ] and New Zealand [ 47 ]. Surveys have been conducted with Australian parents exploring their views [ 48 , 49 ]; however, to date, no in-depth qualitative work has been conducted with members of the Australian public.…”

Genetic newborn screening stakeholder perspectives

“…Whilst some of these issues have been explored in health systems with large private health insurance funding models, namely in North America (25–27), there is paucity of research on stakeholder perspectives of genomic NBS within health domains that are predominantly publicly funded, cover wide geographical expanses characteristic of the Australasian region, and encompass socio-demographically heterogenous (including Indigenous) populations. In Australia, while there has been a degree of systematic synthesis of information on genomic NBS from the perspective of the lay public (26, 28), and from rare disease medical experts (29, 30), the attitudes of parents of children with heterogenous genetic conditions (diagnosed with and without NBS) have not been analysed, nor have the unique challenges faced by policy makers when considering whether and how to incorporate genomics into NBS (31).…”

‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives

“…Whilst some of these issues have been explored in health systems with large private health insurance funding models, namely in North America [ 25 – 27 ], there is paucity of research on stakeholder perspectives of genomic NBS within health domains that are predominantly publicly funded, cover wide geographical expanses characteristic of the Australasian region, and encompass socio-demographically heterogenous (including Indigenous) populations. In Australia, while there has been a degree of systematic synthesis of information on genomic NBS from the perspective of the lay public [ 26 , 28 ], and from rare disease medical experts [ 29 , 30 ], the attitudes of parents of children with heterogenous genetic conditions (diagnosed with and without NBS) have not been analysed, nor have the unique challenges faced by policy makers when considering whether and how to incorporate genomics into NBS [ 31 ].…”