Genomic Medicine: S&T Committee Report

Earl of Selborne Excerpts

Wednesday 9th June 2010 Lords Chamber

[The Earl of Selborne]

My Lords, the whole House will wish to congratulate the noble Lord, Lord Patel, on this important report and on the informative way in which he introduced this debate. I was not a member of the sub-committee, so I can say with some degree of impartiality that I believe that this report can be listed, with several others over the years from the Science and Technology Committee, as one that fulfils the key role of informing and stimulating public debate on issues that inevitably arise when there are rapid and far-reaching scientific advances leading to challenges and, of course, opportunities for the user community, government, regulators and the scientists themselves.

The noble Lord, Lord Patel, spelled out graphically the dramatic speed of progress in sequencing and the increase in the volume and complexity of DNA sequence data that are now being produced. These have given rise to a new, highly skilled industry that is growing rapidly around the world. We are leaders in it, which is an important attribute that we should never lose sight of. The health benefits to be gained over the years ahead could be great. It is important not to oversell them, but anyone would recognise at first glance the potential for disease diagnosis and management, although much of it is as yet unfulfilled. However, this will happen only if the development of informatics keeps pace with the accumulation of data. Already we are beginning to see that our ability to interpret the results is lagging behind the new generation of sequencing technologies, so it is essential that bioinformatics support and functional genetic investigations are available in close conjunction with the clinical services.

I shall confine my remarks to Chapter 5 of the report, which relates to the need to support bioinformatics. Interpreting this ever-increasing accumulation of data presents a major challenge for researchers and clinicians. The noble Lord, Lord Patel, quoted Sir Mark Walport’s oral evidence. I shall quote a different part of his evidence, which is reproduced in paragraph 5.7. He said:

“I think one of the major things that this Committee could actually be helpful on is to point out the need for there to be proper and sustained funding for databases such as the European Bioinformatics Institute which will otherwise become unsustainable and would put Europe in a weak competitive position”.

It was gratifying that the previous Government in their response accepted the case for more secure funding for the EBI through the Research Councils UK’s large facilities road map and that the Biotechnology and Biological Sciences Research Council—the BBSRC—awarded the EBI £10 million to increase its data capacity. The BBSRC is now developing the business case for longer-term funding for the institute. This gives grounds for optimism that appropriate investment in informatics infrastructure at the European level might be secured with leadership from the United Kingdom. The BBSRC deserves credit for having led on this.

The noble Lord, Lord Patel, also referred to an innovative company, Oxford Nanopore Technologies, which gave evidence to the committee and has circulated a note drawing attention to developments since the report came out, specifically drawing attention to the demand for trained bioinformaticians. It seeks to recruit in that specialised sphere, but it says that there is a limited pool of skilled resource in the United Kingdom at a time when the demand for trained bioinformaticians is exploding. It states:

“Access to bioinformatic resource, particularly for smaller laboratories, will be a key enabler in achieving critical mass in genome research and translating the results of that research into clinical practice”.

No one could possibly quarrel with that observation.

The noble Lord, Lord Patel, referred several times to recommendation 8.23, which states:

“We recommend the establishment of a new Institute of Biomedical Informatics to address the challenges of handling the linking of medical and genetic information in order to maximize the value of these two unique sources of information”.

This recommendation appeared to have been kicked into the long grass in the previous Government’s response. They undertook to consider the proposal carefully—I am always rather chary when I hear the response “We will consider it carefully”, because I think that I know what it means—but no dedicated funding was made available. Instead, the response referred to the excellent work at the National Genetics Reference Laboratory in Manchester in delivering bioinformatics courses for molecular and clinical geneticists. However, we have to put this in perspective. The Wellcome Trust Sanger Institute, which also speaks with some authority, commented that while this laboratory in Manchester,

“is carrying out some work in this area, it has neither the funding, the mandate nor the focused mission to lead the United Kingdom in a coherent fashion in the use of linked medical and genetic information. A national institute of biomedical informatics with this specific mission would ensure that the UK translates its research leadership in these areas into improved healthcare delivery. Without it we are likely to fail at the point of translation into material benefits, as has happened so often before”.

The noble Lord, Lord Patel, and his committee are right to put so much emphasis on ensuring that we have an appropriate national capacity to meet the biomedical informatics challenge. I hope that the Minister can assure the House that this recommendation will be followed up.

Whenever any new facility is proposed in these days of funding cuts, I accept that there is a responsibility on those who support the proposition to explain how it is to be funded. In the United Kingdom, we spend about £2.5 billion on pathology services, which are scattered around every hospital in every corner of the National Health Service. These pathology and laboratory services in NHS hospitals tend to be fragmented. In his evidence, Sir John Bell said:

“There is an urgent need therefore to rationalise the management of these, either at an NHS Trust level or through large regional laboratories”.

The virtues of that are economies of scale, bringing together state-of-the-art equipment and the integration of laboratory services, which would save money and provide a coherent, integrated delivery. The medical profession, which always tends, like any other profession, to protect its own patch, must recognise that the sovereignty of individual specialities cannot inevitably be protected. By bringing together molecular pathology and genetics laboratories, one has opportunities for the more efficient use of existing resources. I commend that to the Minister. I very much hope that the Government will now make a national institute of biomedical research a reality.