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Genome sequence ;

Sequencing, now more than ever

65 years after the death of Rosalind Franklin and 70 years since the publication of the structure of DNA, the impact of the discovery continues to grow. The structure led to DNA sequencing, with King’s continuing to play a leading role in its application to medicine.

King’s and Guy’s have one of the longest histories of application of human DNA testing dating back to the founding of the Paediatric Research Unit (later the Division of Genetics and Development) by Paul Polani in 1960. Martin Bobrow, his successor in 1982, was also a governor of the Wellcome Trust from 1996, and was involved in some of the early decisions related to the Sanger Centre’s participation in the Human Genome Project.

When the Sanger Centre was founded in 1993 with the aim of sequencing the Human Genome, two members of the division moved to Hinxton to take up key roles. David Bentley became head of the Human Genomics Division and Ian Dunham led the sequencing of the first human chromosome, chromosome 22, published in 1999

Paul Polani

Paul Polani, source

When the first human genome was completed in 2003 at a cost of perhaps $3 billion, the prospect of whole genome sequencing for clinical care looked remote, however the development of massively parallel so called “next generation sequencing” offered the prospect of much cheaper and more rapid sequencing. Solexa, the Cambridge company that developed the technology, was bought by the US company Illumina in 2007 and David Bentley went on to become Illumina’s chief scientist.

The Clinical Genetics Department of Guy’s and St Thomas’ Hospital (GSTT), which had developed out of the Paediatric Research Unit, was in one the founders of a network of 23 Clinical Genetics laboratories offering DNA testing in the NHS, which developed following a 2003 government white paper.

In 2012 government announced the plan to sequence 100,000 whole genomes for clinical care, with King’s and GSTT, through the NIHR Biomedical Research Centre, contributing to pilot work in collaboration with Genomics England. GSTT went on to become one of the thirteen NHS England Genome Medicine Centres during the main programme of the project.

The 100,000 genomes project was completed in 2019, demonstrating the health effectiveness of whole genome sequencing for clinical care. NHS England went on to establish the NHS Genome Medicine Service, which combines established genetics testing with whole genome sequencing options. GSTT is leading one of the seven Genome Laboratory Hubs for this service.

Genomics England turns 10 in July. The UK, with its increasing richness of clinical genomes and research cohorts such as UK Biobank, is recognised as leading the world in this space and King’s, with hundreds of researchers securely accessing these datasets, is playing a major role in improving understanding of the human genome and its interpretation for clinical care.

The NHS turns 75 on 5 July 2023. It is the only health system in the world that has integrated whole genome sequencing for standard care. The World Health Organistation (WHO) was similarly 75 this month, and starting with epidemic surveillance, is becoming much more interested in the global application of genomics technologies and data. The legacy of the structure of DNA continues to be very bright.

In this story

Tim  Hubbard

Tim Hubbard

Professor of Bioinformatics

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