Long Read Sequencing - Babies in Focus

Description

Genomics England, in partnership with the NHS and other stakeholders, is co-designing and delivering a national research study, the Generation Study, involving up to 100,000 newborns to understand the role of whole genome sequencing (WGS) to achieve more timely diagnosis of rare conditions and access to early intervention, enabling faster and better care for babies born with rare childhood onset diseases. The Generation Study aims to assess the benefits, challenges, and feasibility of integrating whole genome sequencing into newborn screening to enhance the early diagnosis and treatment of rare genetic conditions. If successful, the study could establish the foundation for the world's first national newborn screening program incorporating whole genome sequencing. The study also aims to understand how, with consent, newborns' genomic and health data could be used for research to enable new diagnostic discoveries and treatments to be developed. As part of the consent to the study mothers are asked for permission to retain the baby's data and sample and link it to clinical data over the course of their life and the ability to recontact them with further research opportunities. The study will provide an invaluable dataset to researchers across industry and academia, and we have the opportunity to conduct further studies in a subset of these families to maximise the future impact to patients, researchers and the NHS. Deepening our dataset, including by introducing new modalities, is a priority for industry. To do this, we to plan to develop an enhanced longitudinal birth cohort (Babies in Focus) in a subset of participants in the next five years. This will begin with conducting long-read whole genome sequencing of at least 1,000 samples across one or more long read technologies. We are therefore engaging with the market to assess options to partner with a supplier to deliver 1,000 long-read sequences, with potential scope to deliver more.

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