The Scottish Executive Health Department welcomes the opportunity to respond to the call for evidence from the House of Lords Science and Technology Committee which is conducting an Inquiry into the present use of Human Genetic Databases and the plans for their development. In so doing it is presumed that it would not be helpful to the Committee to duplicate much of the ground which will be covered within the Department of Health's Memorandum [see p 32] as in essence the major issues of interest are the same both sides of the Border. We have seen the DH Memorandum in draft form and are in agreement with the content and the comprehensive discussion of the issues within it. This submission will therefore concentrate on those aspects of issues which are of particular relevance to Scotland, including those specifically mentioned in the letter of 20 July 2000 from the Clerk to the Committee, ie the Scottish Molecular Genetics Consortium and general practitioner records in Scotland.

  The Chief Scientist's Office of the Scottish Executive Health Department have compiled a separate submission which, as it can stand alone, has not been incorporated within the body of the SEHD document, in the interests of clarity, but accompanies the document as an annex (Annex 2).

GENERAL CONTEXT

  Policy in relation to genetic issues, and thus the major part of the work of the Human Genetics Commission, is a reserved area and falls within the jurisdiction of the Westminster Parliament. However, the organisation and provision of NHS services for individuals and families with (or at risk from) genetic disorders and any aspects of the HGC work which have implications for such services, are areas which are devolved and fall within the area of responsibility of Scottish Ministers and the Scottish Parliament.

  It is only in respect to the details of some funding arrangements and operational issues that genetic services within the NHS in Scotland differ from those in the rest of the UK. Thus, in general the observations made about NHS services within the DH Memorandum are equally pertinent to Scotland.

  Similarly, all relevant research funded within Scotland will be contained within the National Research Register as referred to in the DH Memorandum.

QUESTIONS ON WHICH EVIDENCE IS INVITED WHERE THERE ARE MATTERS OF RELEVANCE FROM SCOTLAND

What current projects involve collecting genetic information on people in the UK?

Each of the four regional genetic centres in Scotland collects and holds information on individuals and families with (or at risk of) genetic disorders on both disease specific and general genetic registers. The registers in each of the centres are discrete and not linked. They operate within the recognised boundaries of confidentiality and Data Protection Legislation. Similarly, the Molecular Genetic Laboratories within each of these centres store residual DNA from specimens referred to them for diagnostic testing. Although such registers and DNA banks could with appropriate consent and ethical approval be used for research, they are primarily designed to aid "clinical" management of individuals and families and as such are not projects.

  More detail of the way in which the Scottish Molecular Genetic Laboratories operate within a consortium arrangement can be found in Annex 1.

  Research relating to the collection of genetic information in Scotland can be found within the CSO submission in Annex 2.

What other projects are about to start?

  There is considerable interest within academic circles in Scotland in the proposal currently being discussed by the MRC, Wellcome Trust and NHS, for the establishment of a new large prospective UK population cohort study (as detailed in the DH Memorandum). With its well developed genetic science base and comprehensive population registry system, Scotland would be well placed to participate in such a venture should it be given ethical and funding approval.

Are there collections of materials (eg tissue samples) that could be used to generate databases of DNA profiles?

  The existence of stored clinical materials following diagnostic analyses within the health care setting and its potential uses and benefits are essentially the same in Scotland as in other parts of the UK.

  In Scotland as in other parts of the UK, blood is take routinely from all new born babies for screening for metabolic diseases. However, unlike England, a single national laboratory in Glasgow is centrally funded (as a national service) to provide the testing service for the whole of Scotland. This laboratory has been in operation since 1965. The service is contracted for by the National Services Division of the Common Services Agency for the NHS in Scotland, on behalf of the Scottish Executive. It is stated within the terms of the contract with the laboratory that the residual portion of the blood spots (on the Guthrie cards) is the property of the Scottish Executive. Any proposal to carry out a research project on these specimens, or use them to generate DNA profiles, would therefore be subject to consideration by the Scottish Executive within the context of appropriate consent and Ethical Committee approval. The Guthrie cards from all babies tested in Scotland since the beginning of the service are stored in the laboratory. There is thus an archive of material which dates back for 35 years and contains over two million specimens. This is a valuable but finite resource (given the size of the blood spots); thus there would have to be careful prioritisation of any proposed research projects using these cards.

  In Scotland there is a three yearly rolling programme of health surveys. A random sample of the population (involving approximately 13,000 individuals in 1999) are selected for study. Health and lifestyle information is collected from those who agree to participate and those individuals over 11 years of age are invited to give a blood sample. A variety of analyses are performed on these samples in order to provide population profiles on biological markers of interest, eg vitamin levels. Residual portions of these specimens are stored and would thus have the potential of being used as a source from which a database of DNA profiles could be generated. The use of such specimens would, however, be governed by the usual considerations of consent, confidentiality and ethical approval.

What is the genetic information that is being collected and how is it being stored and protected?

  Sequence information from RNA and DNA extracted from human tissue specimens can be stored in a variety of ways including both paper and computer based systems. There are no material differences in the provisions governing the confidentiality of data and in terms of the data protection legislation in Scotland. This issue is addressed comprehensively in the DH Memorandum.

  In Scotland there are no routinely collected health statistics held within the Information and Statistics Division of the Common Services Agency, which would fall within the definition of Human Genetic Databases as used by the Inquiry. All laboratory reports from genetic laboratories are made in aggregate form to ISD and cannot be linked to individual patient information.

  As in England, work is in hand to develop electronic clinical records across the NHS in Scotland, which will have the potential to facilitate the compilation of national clinical databases in the future. There is an intimation in the covering letter from the Clerk to the Committee, that Scottish GP records are kept in a more coherent and computerised way compared with other parts of the UK. We presume that this perception is derived from the relatively wide-spread use of a national computer system, GPASS. However, in effect, this in no way differs from the rest of the UK, where other computer systems such as VAMP or EMIS are widely used.

  The Continuous Morbidity Recording Project records symptoms and diagnoses from all GP contacts for a representative range of computerised "spotter" practices throughout Scotland (currently around 60). Although there are no plans for links with human genetic databases, developmental work is looking at the feasibility of creating an electronic patient and an electronic health record which, hypothetically, could include information based on genetic studies and thus could potentially provide a mechanism for the collection of clinical information in a prospective cohort study.