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UK funding (£1,049,486): Evaluating scientific and ethical approaches to newborn screening with whole genome sequencing using large-scale population cohorts Ukri1 Feb 2024 UK Research and Innovation, United Kingdom
Overview
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Evaluating scientific and ethical approaches to newborn screening with whole genome sequencing using large-scale population cohorts
| Abstract | 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. |
| Category | Research Grant |
| Reference | MR/X021351/1 |
| Status | Active |
| Funded period start | 01/02/2024 |
| Funded period end | 31/01/2027 |
| Funded value | £1,049,486.00 |
| Source | https://gtr.ukri.org/projects?ref=MR%2FX021351%2F1 |
Participating Organisations
| UNIVERSITY OF EXETER | |
| ESRC |
The filing refers to a past date, and does not necessarily reflect the current state. The current state is available on the following page: University OF Exeter, Exeter.
