Select Committee on Science and Technology Fourth Report


Visit to the Human Genome Campus, Hinxton

1. Members of the Sub-Committee visited the Human Genome Campus at Hinxton, Cambridge on 31 January 2001 to see at first hand the technology of genome sequencing and to discuss present and projected developments in both the technology and the science with the leading practitioners who worked there.

2. The visiting party consisted of Lord Oxburgh (Chairman of the Sub-Committee), Lord Jenkin of Roding, Lord Patel, Lord Perry of Walton, Lord Rea, Lord Turnberg, Lord Wade of Chorlton and Baroness Wilcox. The party was supported by the Sub-Committee's Specialist Adviser (Professor Paul Elliott) and Clerk (Mr Roger Morgan), and the Select Committee's Specialist Assistant (Dr Adam Heathfield). Dr Richard Pitts of the HGC Secretariat was also present to assist in the discussions.


3. Martin Bobrow, Professor of Medical Genetics at Cambridge University and a governor of The Wellcome Trust, welcomed the Sub-Committee to the Trust's Human Genome Campus. He noted that the science of genomics was a step change in biology. This would be beneficial in revolutionising understanding as well as producing practical benefits in the short to medium term. He said that those involved in creating the Sanger Centre had been visionary in perceiving that long and complex genomes really could be sequenced. The expertise concentrated on the campus placed the United Kingdom at the forefront of this work, and the Centre's role in ensuring that genome databases were publicly available had been vital.

4. Professor Allan Bradley, the recently appointed Director of the Sanger Centre, gave a brief outline of the Centre's history, from its conception in 1992 and its establishment on a joint campus with the European Bioinformatics Institute (EBI) in 1993. He described the data sequencing strategy the Sanger Centre used, and the way the end data were annotated and stored. The Centre was the largest public contributor to the Human Genome Project, and employed about 575 people. Its principal work programmes involved sequencing human, mouse, zebrafish and pathogen genomes; annotating them; and investigating sequence variations and their association with disease[73].

5. Professor Bradley discussed the sorts of research that would be needed to understand how complex biological systems were influenced by different parts of the genome sequences. It was now possible to perform experiments with entire sets of genes (30-40,000 in humans, for example), but these required enormous computational resources and skilled people to analyse and interpret all the data they produced. Laboratory work was an important component of the research and, in this context, Professor Bradley stressed that the effects of variations in DNA on a complex organism could not be fully understood by simple cell culture studies. Studying the effects of mutations in whole animal models would be vital to understanding the genome data. If the Government failed to support the need for animal procedures, and to protect researchers from intimidation, the United Kingdom's ability to profit from its work on genome sequencing would be severely compromised. Biological sample collections, like cancer cell lines, and patient databases would also be vital to interpreting all the sequenced genome data.

6. Dr Graham Cameron, joint head of the EBI, outlined the work of the Institute. The EBI is part of the European Molecular Biology Laboratory (EMBL); it stored, organised, updated, and made publicly available all of the data sets assembled with EMBL help. The types of data it held included nucleotide sequence databases, gene expression databases, and protein structure databases.

7. Dr Cameron described the growing computational demands of bioinformatics, contrasting Moore's law, which predicted a doubling of computer power every 18 months, with the growth rate of sequenced DNA data, which doubled every 10 months. Thus the computer resources to manage the data needed not only to be updated but to be significantly expanded. However, he highlighted the fact that only a small proportion of the expenditure on genome projects had been allocated to the information resources - the collection of the data was far more costly than its storage and analysis. He also highlighted the need for secure institutions to act as custodians of the electronic scientific records.


Guided by Christine Rees, the visiting party then toured the Sanger Centre, receiving a number of short presentations from members of staff:

  • Dr Julian Parkhill described the sequencing of various pathogen genomes such as TB and plague;
  • Dr Stefan Beck spoke about the technical process of sequencing DNA and checking the data accuracy;
  • Dr Rachel Ainscough showed the Sub-Committee the equipment used in the sequencing work;
  • Mr Phil Butcher talked about the IT infrastructure that supported the processing, storage and dissemination of the data; and
  • Dr Ewan Birney outlined the joint EBI/Sanger 'Ensembl' project which maintained a constantly updated, annotated version of the genome sequence.


8. In general discussion with Professor Bobrow, Professor Bradley, Sir John Sulston (Founder Director of the Sanger Centre), Dr Cameron, and Professor Michael Ashburner[74] (the other joint head of the EBI), and other senior staff from both organisations, the following main points were noted.

  1. The Sanger Centre was a world leader in the Human Genome Project. In providing about a third of the data, it was the single largest public provider. Its "finishing" arrangements also meant that the finalised data were of a very high degree of accuracy.
  2. The Project was not mapping the 'standard' genome. The aim was to provide a reference model as a basis for further work and refinement as variations between individuals became better understood. Keeping track of all this material, together with information on annotations and functionality was undertaken by the EBI, whose co-location with the Sanger Centre provided great synergy.
  3. The work of both centres made full use of the latest technologies. The demands, particularly as regards the computing resource, were substantial. The Sanger Centre deposited information on about 50 million base pairs of genetic data every 24 hours. Nearly 20 per cent of its 575 staff worked on bioinformatics.
  4. Actual genes made up only about 3 per cent of the human genome. Even so, the full might of the Sanger Centre's operation would take about a week to sequence all an individual's genes. Even if only sites of possible key variations (in about 400 genes) were targeted, the Centre could process only about 100 cases a week. Handling such data made substantial demands of IT in terms of both storage and processing. There would probably need to be improvements of an order of magnitude or more to secure the full benefits of the 500,000 person MRC/Wellcome Trust study.
  5. Planning for large cohort studies should proceed with a clear view of the time scale and the investment needed. It would be foolish to embark on a project where computing capacity would provide a real limitation, but work of universal benefit should be undertaken even when the exact outcomes were not clear. Sequencing the human genome was a good example of a project where it would have been easy, but unwise, to be deterred by apparent initial difficulties.
  6. The potential benefits of generating genetic and biomedical databases could not be overstated. The EBI's experience already showed that the scientific community's use of the databases it held vastly speeded up the development of hypotheses for testing in the laboratory and otherwise.
  7. The rapid development of the databases created problems in archiving and time-stamping references for citation which had not yet been fully resolved. Research based on a genome database could be hard to replicate or build on once the database had been updated or re-annotated.
  8. The Sanger Centre had been highly influential in ensuring that basic human genome data were publicly available from centralised databases at no charge. The need to provide open access to such basic scientific data was also the driving force of the EBI. The public good of these data was such that making them available should be supported by public investment.
  9. The position over intellectual property rights and patenting in the new situation had not been fully thought through. Biology had advanced dramatically in the last 20 years, but IPR and patent law had not kept up. It was clear that underlying data should be freely available, but unclear as to where in the development of commercial products protection should be available for the developer.
  10. Concern was expressed about opposition to animal testing and potential changes to consent arrangements for medical information and sample-taking - these would impede progress in important biomedical research. It was noted that the scientific community could do more to communicate the benefits of its work that depended on such tests and procedures.

9. Members endorsed the Chairman's thanks to The Wellcome Trust and the various participants for having provided a most stimulating and informative day.

73   The Sanger Centre had also submitted written evidence for the Inquiry (p 88). Back

74   Dr Cameron and Professor Ashburner had also submitted written evidence for the Inquiry (p 110). Back

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