Select Committee on Science and Technology Written Evidence


Annex 1

The Scottish Molecular Genetics Consortium

ORGANISATION AND BACKGROUND TO ITS DEVELOPMENT

In Scotland the provision of clinical and laboratory genetic services is based on the four regional genetic advisory centres situated within the main teaching centres of Aberdeen, Dundee, Edinburgh and Glasgow. These centres provide services for their own local populations and through a network of outreach services, they cater for the needs of more distant and rural parts of Scotland.

  With the rapid advance of DNA technology in the 1980s, it became apparent that without coordination DNA diagnostic services would develop in an ad hoc fashion, driven by laboratories with a special expertise or research interest. There was thus the potential for a wasteful duplication of facilities and even absence of facilities in some areas for rarer tests.

  There is a strong network within Scotland between the four main genetic centres and in discussion they agreed between them that it would be more appropriate to try to centralise DNA laboratory services in order to maximise efficiency, minimise duplication and ensure availability of the full range of necessary tests for the Scottish population. Thus, a combined application from Glasgow, Lothian, Grampian and Tayside Health Boards was made to the Scottish Office Advisory Group on New Developments in Healthcare in 1984. The bid was for funding to support the establishment of a comprehensive service of DNA analysis for the diagnosis and prevention of genetic disease in Scotland. In April 1985 it was agreed that support for the laboratory services involved in this work would be provided for three years.

  In view of the number of genetic diseases involved and the complexity of the technology, it was proposed by the Consortium that the workload be shared between the four centres in such a way as to exploit local expertise and make the best use of limited resources. Each of the four centres would be responsible for the laboratory analysis of a defined set of genetic disorders for the whole of Scotland. The centres would also cooperate by collecting blood, extracting DNA and dispatching relevant samples to other centres. Patients and their families were to be counselled and managed in their own local genetic clinic, but after collection and preparation, the specimens would be sent by the local laboratory for DNA analysis in the one designated laboratory providing a national service for that disease. In order to coordinate the activities of the service and to allocate responsibility for the DNA diagnosis of particular disorders to individual centres as needed, an informal Consortium committee was formed consisting of two representatives from each of the centres. It elected a Chairman and Secretary and met at least once a year.

  What could not have been envisaged at the time was the rapid growth in the availability of DNA probes suitable for genetic diagnosis that occurred during the three year funding period. The Consortium's attempts to keep pace with these rapid developments was severely constrained by a budget determined by the prevailing circumstances of 1985. The expansion of the service which occurred during the three years was heavily dependent on the use of research funds in the centres of excellence, which were becoming increasingly difficult to sustain.

  A major review of the service was undertaken by the Scottish Office in 1990 in order to consider what arrangements there should be for the future provision of this service and what alternative funding arrangements should be put in place.

  The review favoured a service model that allowed for the close integration of laboratory and clinical genetic services feeling that this allowed optimal service provision. It also endorsed the Consortium arrangement which had been developed between the four centres which allowed for the distribution of responsibilities to ensure a balanced workload for each laboratory, the avoidance of overlap and for service provision for less common conditions. The review recommended that the concept of a molecular genetics consortium should be sustained, but that more formal co-ordinating mechanisms should be put in place and that the service should receive central funding as a national service. Thus, from 1990-91, there has been a formal steering group in operation which oversees and co-ordinates the activities of the Consortium and provides a forum in which policy and the distribution of work is agreed. Each of the molecular genetic laboratories and four clinical genetic services are represented on the steering group as are users of the service (NHS consultant clinical geneticists and paediatricians) and the Scottish Executive. The National Services Division of the CSA contracts for the service on behalf of the Scottish Executive as it does for all other national level services. The NSD thus agrees service level agreements and specifications with each of the four molecular genetic laboratories and has established regular monitoring and auditing arrangements.

  Proposals for the addition of new tests to those available in Consortium laboratories come forward in two ways, either as requests from the Users Group who see a clinical need for the availability of a test, or from one of the four laboratories who feel that a test that they have had under development has reached the stage where it could be offered as a clinical diagnostic service. The Users Group are asked to prioritise all proposals for additional tests bearing in mind the resources available for developments within the Consortium during the coming year. Final agreement on any proposal is then taken within the Steering Group taking into account both the costs of the proposal and priority attached to it by the users of the service.

STORAGE OF DNA SPECIMENS AND PERSONAL/CLINICAL INFORMATION

  Diagnostic or predictive DNA testing for the purpose of giving genetic advice often involves testing not only the affected individual, but other family members as well.

  The pedigree and personal and clinical information on the individuals on whom tests are requested are held within the computerised genetic register of the Genetic Advisory Centre responsible for the management of the family concerned.

  The residual portion of DNA specimens on which tests are performed are stored within the Consortium laboratory in which the test is carried out—which may be within a different Genetic Advisory Centre from the one advising and managing the family. DNA is extracted and stored from approximately 8,000 specimens per year within the Consortium. DNA specimens are stored for a variety of reasons in the interests of the families being tested. Such reasons include:

    —  the test may require to be repeated for technical reasons;

    —  the DNA of the affected individual in whom the disease associated mutation has been demonstrated may be required for comparison should other family members come forward subsequently for testing. This may occur after the death of the affected individual;

    —  as technological developments occur, new tests which are diagnostic or of greater predictive value for family members may become available.

  The confidentiality and protection of information in relation to DNA test results and specimens within the laboratories of the Scottish Molecular Genetics Consortium is a specific requirement of the contractual agreement with the laboratories. The CPA accreditation scheme to which all the laboratories are required to belong, also contains specific confidentiality requirements.


 
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