Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
PLoS One. 2024 Mar 25;19(3):e0299336. doi: 10.1371/journal.pone.0299336. eCollection 2024.
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?'.
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.
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.
新生儿血斑筛查是一项成熟的人群健康计划，可检测严重的、儿童期发病的、可治疗的疾病，以改善健康结果。随着基因组技术的快速发展，许多国家正在积极讨论将基因组检测纳入新生儿筛查计划。虽然将基因组检测添加到澳大利亚的新生儿筛查计划中可以改善婴儿和家庭的结果，但必须考虑到潜在的危害、伦理、法律、公平和社会影响以及经济和卫生系统的影响。我们不仅要问“我们能否”使用基因组学来筛查新生儿，还要问“我们是否应该”，以及“卫生系统应该在基因组学新生儿筛查上投入多少”。
本研究将使用定性方法来探索澳大利亚各地的父母/照顾者、卫生专业人员/科学家和卫生政策制定者对基因组学新生儿筛查的理解、优先事项、关注和期望。通过医院和社区环境招募 30-40 名父母/照顾者、15-20 名卫生专业人员/科学家和 10-15 名卫生政策制定者进行深入的半结构化访谈。使用归纳内容分析对数据进行分析。悉尼儿童医院网络人类研究伦理委员会批准了本研究方案[2023/ETH02371]。将以《定性研究报告标准》为指导，规划、开展和报告研究。
很少有研究从多元化的利益相关者的角度探讨基因组学在新生儿筛查中的影响，也没有在以全民医疗保健为基础的文化和基因多样化的人群中进行此类研究。作为多部分研究计划中的第一项研究，研究结果将用于从主要利益相关者的角度生成关于基因组学新生儿筛查的风险和益处以及伦理、法律、社会和公平影响的重要性的新知识。因此，这将是制定以儿童和家庭为中心的标准的基础，这些标准将用于为卫生技术评估提供信息，并推动在新生儿筛查中实施基因组学的高效和有效的政策决策。
