Expanding the notion of “benefit”: comparing public, parent, and professional attitudes towards whole genome sequencing in newborns

Clark, Corinna C. A.; Boardman, Felicity K.

doi:10.1080/14636778.2022.2091533

Cited by 5 publications

(5 citation statements)

References 69 publications

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“…By contrast, another recent report noted that parents and the public may view genomic data as empowering and important. Yet, providers may be more reticent to employ broader genomic testing that provides substantial information about future disease risk and may find it challenging to explain such information to parents [ 118 ]. Concerns about the utility of genomic sequencing for underrepresented populations and issues of privacy remain [ 118 , 119 ].…”

Section: Discussionmentioning

confidence: 99%

“…Yet, providers may be more reticent to employ broader genomic testing that provides substantial information about future disease risk and may find it challenging to explain such information to parents [ 118 ]. Concerns about the utility of genomic sequencing for underrepresented populations and issues of privacy remain [ 118 , 119 ]. Also of paramount importance is equitable access to genetic counseling resources [ 116 ].…”

Section: Discussionmentioning

confidence: 99%

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Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

Tluczek

Ersig

Lee

2022

IJNS

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Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 through 2020 regarding psychosocial issues associated with NBS. Results describe parents’ knowledge of and attitudes towards NBS, reactions to and understanding of positive NBS results, experiences of communication with health providers, decisions about carrier testing, and future pregnancies. Findings also explain the impact of positive NBS results on parent–child relationships, child development, informing children about carrier status, family burden, quality of life, and disparities. In conclusion, psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations. Future investigations should be more inclusive of culturally and socioeconomically diverse families and conducted in low-resource countries. Providing these countries with adequate resources to develop NBS programs is an essential step towards achieving international health equity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

Tluczek

Ersig

Lee

2022

IJNS

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“…We anticipate conducting 15-20 interviews with "designers" and 25-30 interviews with the "early implementers" (5-6 from each site) based on previous similar research. 17,18 Observations will be conducted at each of the first 5-6 recruitment sites for the Generation Study.…”

Section: Sample Sizementioning

confidence: 99%

“…We anticipate conducting 15-20 interviews with “designers” and 25-30 interviews with the “early implementers” (5-6 from each site) based on previous similar research. 17, 18…”

Section: Research Planmentioning

confidence: 99%

Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A study protocol for the Generation Study - Process and Impact Evaluation

Lewis,

Boardman,

Buchanan

et al. 2024

Preprint

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The role of genomics in healthcare is expanding rapidly and many countries are set to explore the possibility of using genomic sequencing to expand current newborn screening programmes. Offering routine genomic newborn screening (gNBS) would allow newborn screening to include a much broader range of rare conditions, but there are many technical, practical, psychosocial, ethical and economic challenges to be addressed. Genomics England and NHS England have established the Generation Study to deliver gNBS for 100,000 births in 2024/5 to explore the benefits, challenges, and practicalities of offering gNBS to parents in England. Here we describe the study protocol for the Generation Study - Process and Impact Evaluation, an independent mixed-methods evaluation of the Generation Study. The evaluation will have oversight from a Study Advisory Group that includes academic, clinical and patient representatives and a Patient and Public Involvement and Engagement (PPIE) Advisory Group that includes members from parent and patient organisations and parents with relevant experiences. The Process and Impact Evaluation will examine whether offering gNBS in routine care is feasible and acceptable and inform our understanding of the clinical utility and cost effectiveness of gNBS in England. Through surveys and interviews we will explore the attitudes and experiences of parents, professionals and patient organisations. We will also consider the clinical, psychosocial and health economic impacts, both positive and negative. The results will be presented at national and international conferences and submitted for peer review and publication.

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“…These arise against a backdrop of existing ELSI questions in NBS, including avoiding overdiagnosis, defining the benefits of NBS (including whether reproductive choice is a justified benefit), the scope of conditions it is appropriate to screen for, whether and how to obtain explicit consent to NBS, and ongoing access to samples. ELSI in gNBS is the subject of a rapidly growing literature base [58,60,61,64,65,[93][94][95][96][97][98] . Several of the issues discussed in this paper have an ethical dimension, too: consent, managing uncertainty, whether to disclose incidental or unsolicited findings, choosing which conditions to screen, disclosing carrier status, and the possibility of discrimination.…”

Section: Ethical Legal and Social Issues Associated With The Use Of G...mentioning

confidence: 99%

The Australian landscape of newborn screening in the genomics era

Ji,

Farrar,

Norris

et al. 2023

Rare Dis Orphan Drugs J

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In Australia, over 300,000 newborns undergo newborn bloodspot screening (NBS) annually, with approximately 1 in 1,000 identified with a rare but actionable condition through this pathway. Prior to 2018, the inclusion criteria for adding conditions in NBS panels was inconsistent nationally, leading to the development of the Australian National Newborn Bloodspot Screening Policy Framework. This framework promotes systematic and evidence-based inclusion of conditions using criteria closely informed by traditional Wilson and Junger screening principles. Current policy initiatives are focused on achieving national consistency in the conditions screened. NBS programs, initiated in the 1960s, have used a variety of techniques, including but not limited to tandem mass spectrometry and immunological assays. The acceleration of genomic technologies has the potential to greatly increase the number of conditions screened and match affected newborns with innovative treatment options, including advanced (gene, immune modulation, and RNA) therapies. This review describes the evolution, current status quo, and outlook for Australian NBS programs with a focus on the implications of wider adoption of genomic newborn screening (gNBS) in our culturally, geographically, and genetically diverse population. We discuss the potential for transformative benefits for families with children identified by gNBS and how this must be balanced against the potential for a range of unintended negative consequences. We emphasise the importance of a nationally agreed, coordinated, and streamlined approach to the addition and removal of conditions from Australian NBS programs, which considers the utility, cost, ethical, and equity aspects of gNBS.

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Expanding the notion of “benefit”: comparing public, parent, and professional attitudes towards whole genome sequencing in newborns

Cited by 5 publications

References 69 publications

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A study protocol for the Generation Study - Process and Impact Evaluation

The Australian landscape of newborn screening in the genomics era

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