Australian public perspectives on genomic newborn screening: which conditions should be included?

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2024-05-08 DOI:10.1186/s40246-024-00611-x
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
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Abstract

Background: Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to include in genomic newborn screening (gNBS).

Methods: We recruited English-speaking members of the Australian public over 18 years of age, using social media, and invited them to participate in online focus groups.

Results: Seventy-five members of the public aged 23-72 participated in one of fifteen focus groups. Participants agreed that if prioritisation of conditions was necessary, childhood-onset conditions were more important to include than later-onset conditions. Despite the purpose of the focus groups being to elicit public preferences, participants wanted to defer to others, such as health professionals or those with a lived experience of each condition, to make decisions about which conditions to include. Many participants saw benefit in including conditions with no available treatment. Participants agreed that gNBS should be fully publicly funded.

Conclusion: How many and which conditions are included in a gNBS program will be a complex decision requiring detailed assessment of benefits and costs alongside public and professional engagement. Our study provides support for implementing gNBS for treatable childhood-onset conditions.

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澳大利亚公众对新生儿基因组筛查的看法:哪些情况应包括在内?
背景:在新生儿筛查项目中实施基因组测序可显著扩大检测病症的数量和范围。我们试图探索公众对哪些疾病应纳入基因组新生儿筛查(gNBS)的偏好和观点:我们通过社交媒体招募了 18 岁以上讲英语的澳大利亚公众,并邀请他们参加在线焦点小组:结果:75 名 23-72 岁的公众参加了 15 个焦点小组中的一个。参与者一致认为,如果有必要对疾病进行优先排序,那么儿童期发病的疾病比晚期发病的疾病更有必要纳入。尽管焦点小组的目的是了解公众的偏好,但参与者还是希望由其他人,如医疗专业人员或对每种疾病有亲身经历的人,来决定纳入哪些疾病。许多与会者认为,将没有治疗方法的病症纳入其中是有益的。与会人员一致认为 gNBS 应完全由政府资助:结论:将多少病症和哪些病症纳入 gNBS 计划将是一项复杂的决策,需要对收益和成本进行详细评估,同时还需要公众和专业人士的参与。我们的研究为针对可治疗的儿童期疾病实施 gNBS 提供了支持。
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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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