Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

King, Jovanka; Grill, Kalle; Hammarström, Lennart

doi:10.3390/ijns9020022

Cited by 9 publications

(7 citation statements)

References 50 publications

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“…the concept of standing for, with and as newborns when thinking about the implications of this technology, , rather than just being led by the existence of new (genomic) technology, and the collective values of reciprocity and trust to overcome inequities in access to novel technologies across the population (47). The potential for stigma and discrimination and legal imperatives to counter these effects are also important aspects to define and redress (48)(49)(50).…”

Section: Discussionmentioning

confidence: 99%

Genetic newborn screening stakeholder perspectives

Kariyawasam,

Scarfe,

Meagher

et al. 2024

Preprint

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Background Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia’s newborn screening program could improve outcomes for infants and families, it must be considered against potential harms, ethical, legal, equity and social implications, and economic and health system impacts. We must ask not only ‘can’ we use genomics to screen newborns?’ but ‘should we’?’ and ‘how much should health systems invest in genomic newborn screening?’. Methods This study will use qualitative methods to explore understanding, priorities, concerns and expectations of genomic newborn screening among parents/carers, health professionals/scientists, and health policy makers across Australia. In-depth, semi-structured interviews will be held with 30-40 parents/carers recruited via hospital and community settings, 15-20 health professionals/scientists, and 10-15 health policy makers. Data will be analysed using inductive content analysis. The Sydney Children’s Hospital Network Human Research Ethics Committee approved this study protocol [2023/ETH02371]. The Standards for Reporting Qualitative Research will guide study planning, conduct and reporting. Discussion Few studies have engaged a diverse range of stakeholders to explore the implications of genomics in newborn screening in a culturally and genetically diverse population, nor in a health system underpinned by universal health care. As the first study within a multi-part research program, findings will be used to generate new knowledge on the risks and benefits and importance of ethical, legal, social and equity implications of genomic newborn screening from the perspective of key stakeholders. As such it will be the foundation on which child and family centered criteria can be developed to inform health technology assessments and drive efficient and effective policy decision-making on the implementation of genomics in newborn screening.

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Section: Discussionmentioning

confidence: 99%

Genetic newborn screening stakeholder perspectives

Kariyawasam,

Scarfe,

Meagher

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…the concept of standing for, with and as newborns when thinking about the implications of this technology, rather than just being led by the existence of new (genomic) technology, and the collective values of reciprocity and trust to overcome inequities in access to novel technologies across the population [47]. The potential for stigma and discrimination and legal imperatives to counter these effects are also important aspects to define and redress [48][49][50].…”

Section: Discussionmentioning

confidence: 99%

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

Kariyawasam,

Scarfe,

Meagher

et al. 2024

PLoS ONE

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Background Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia’s newborn screening program could improve outcomes for infants and families, it must be considered against potential harms, ethical, legal, equity and social implications, and economic and health system impacts. We must ask not only ‘can’ we use genomics to screen newborns?’ but ‘should we’?’ and ‘how much should health systems invest in genomic newborn screening?’. Methods This study will use qualitative methods to explore understanding, priorities, concerns and expectations of genomic newborn screening among parents/carers, health professionals/scientists, and health policy makers across Australia. In-depth, semi-structured interviews will be held with 30–40 parents/carers recruited via hospital and community settings, 15–20 health professionals/scientists, and 10–15 health policy makers. Data will be analysed using inductive content analysis. The Sydney Children’s Hospital Network Human Research Ethics Committee approved this study protocol [2023/ETH02371]. The Standards for Reporting Qualitative Research will guide study planning, conduct and reporting. Discussion Few studies have engaged a diverse range of stakeholders to explore the implications of genomics in newborn screening in a culturally and genetically diverse population, nor in a health system underpinned by universal health care. As the first study within a multi-part research program, findings will be used to generate new knowledge on the risks and benefits and importance of ethical, legal, social and equity implications of genomic newborn screening from the perspective of key stakeholders. As such it will be the foundation on which child and family centered criteria can be developed to inform health technology assessments and drive efficient and effective policy decision-making on the implementation of genomics in newborn screening.

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“…The parents also indicated their interest in receiving information from newborn genomic sequencing [ 22 , 23 ]. Genomic sequencing would have the added complexity of positive/negative/inconclusive results, which requires more time for parental education.…”

Section: Discussionmentioning

confidence: 99%

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

Wilaiwongsathien,

Wattanasirichaigoon,

Rattanasiri

et al. 2023

IJNS

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Newborn screening (NBS) is a public health service that is used to screen for treatable conditions in many countries, including Thailand. Several reports have revealed low levels of parental awareness and knowledge about NBS. Because of limited data on parental perspectives toward NBS in Asia and the differences in socio-cultural and economic contexts between Western and Asian countries, we conducted a study to explore parental perspectives on NBS in Thailand. A Thai questionnaire to assess awareness, knowledge, and attitudes regarding NBS was constructed. The final questionnaire was distributed to pregnant women, with or without their spouses, and to parents of children aged up to one year who visited the study sites in 2022. A total of 717 participants were enrolled. Up to 60% of parents were identified as having good awareness, which was significantly associated with gender, age, and occupation. Only 10% of parents were classified as having good knowledge relative to their education level and occupation. Providing appropriate NBS education should be initiated during antenatal care, focusing on both parents. This study noted a positive attitude toward expanded NBS for treatable inborn metabolic diseases, incurable disorders, and adult-onset diseases. However, modernized NBS should be holistically evaluated by multiple stakeholders in each country because of different socio-cultural and economic contexts.

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Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

Cited by 9 publications

References 50 publications

Genetic newborn screening stakeholder perspectives

Genetic newborn screening stakeholder perspectives

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

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

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