Evaluating scientific and ethical approaches to newborn screening with whole genome sequencing using large-scale population cohorts

使用大规模人群队列评估通过全基因组测序进行新生儿筛查的科学和伦理方法

• 批准号: MR/X021351/1
• 负责人: Caroline Wright
• 金额: $ 133.73万
• 依托单位: UNIVERSITY OF EXETER
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2024
• 资助国家: 英国
• 起止时间: 2024 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FX021351%2F1
• 关键词: Evaluating; scientific; ethical; approaches; newborn

All babies in the UK are now screened at birth for nine treatable diseases through the newborn blood spot test. However, many more genetic conditions exist that are very rare but also treatable. In some cases, early detection and treatment shortly after birth can prevent the disease from occurring, thus offering enormous and life-long benefits to individuals, families, and society. It is now possible to sequence all the DNA from an individual (a whole genome) and determine their entire genetic makeup with just one test. This technology offers the opportunity to detect and prevent many genetic conditions at the same time. Expert groups are now working to decide which diseases and genes are suitable to screen in newborn babies using whole genome sequencing. However, one of the biggest challenges is that changes to the DNA sequence can have different effects in different people, so a change that causes disease in one family may have no effect in another. Finding genetic changes that don't cause disease in babies would be extremely distressing for parents and result in unnecessary extra work for healthcare services. We are trying to lessen this problem by looking at more than 200,000 people in the UK that have already had their genome sequenced. Some of these genomes are from healthy adults, who volunteered to help with medical research, while others are from very sick babies. We will look at genes that have been linked to treatable childhood diseases before and compare the number of types of genetic changes we find in healthy adults versus sick babies. We will also look at their hospital notes and medical records to see if they have the disease. In addition, we will survey experts and members of the public to better understand the key ethical issues relating to this kind of testing. We are particularly keen to explore attitudes towards massively increasing the number of diseases included in newborn screening, which could lead to more false positive results. This research will help decide which genes and conditions should be screened for in newborns, and which should not. By working with Genomics England and NHS England, we will work make sure that our research is used to improve health and maintain patient safety.

现在，英国的所有婴儿在出生时都通过新生儿血点测试筛查了9例可治疗疾病。但是，存在更多非常罕见但也可以治疗的遗传条件。在某些情况下，出生后不久的早期发现和治疗可以防止这种疾病发生，从而为个人，家庭和社会带来巨大的终身利益。现在可以对一个个体（整个基因组）的所有DNA对所有DNA进行测序，并仅通过一项测试来确定其整个基因组成。该技术提供了同时检测和预防许多遗传状况的机会。专家小组现在正在努力决定使用整个基因组测序中哪些疾病和基因适合在新生婴儿中筛查。但是，最大的挑战之一是，对DNA序列的变化可能对不同的人产生不同的影响，因此导致一个家庭疾病的变化可能对另一个家庭没有影响。寻找不会引起婴儿疾病的遗传变化对父母来说极其令人痛苦，并为医疗服务带来不必要的额外工作。我们正在尝试通过查看已经对其基因组进行测序的20万多人来减轻这个问题。这些基因组中的一些来自健康的成年人，他们自愿提供医学研究，而另一些则来自病重的婴儿。我们将研究以前与可治疗的儿童疾病有关的基因，并比较健康成年人与生病婴儿中发现的遗传变化类型的数量。我们还将查看他们的医院笔记和病历，以查看他们是否患有疾病。此外，我们将调查专家和公众成员，以更好地了解与此类测试有关的关键道德问题。我们特别热衷于探索大量增加新生儿筛查中疾病数量的态度，这可能会导致更多的假阳性结果。这项研究将有助于确定应该在新生儿中筛选哪些基因和条件，而哪些基因和条件不应。通过与英格兰基因组学和英格兰NHS合作，我们将确保我们的研究用于改善健康并维持患者的安全。