Co-ordinated Arrangements for Genetic testing for Rare Disorders

1. Preamble

This document has been drawn up by a joint working party of the Clinical Genetics Society and Clinical Molecular Genetics Society, the two constituent groups of the British Society for Human Genetics that are particularly concerned with the provision and performance of molecular testing for genetic disorders.

Diseases where there is a requirement for NHS molecular genetic testing fall into three categories:

 2.1 A limited number of relatively frequent single-gene disorders, such as cystic fibrosis, Huntington disease and Fragile-X syndrome. These fit well into the existing organisation of regionally based molecular genetics laboratories.

 2.2 A much larger number of individually rare diseases which collectively add up to a substantial part of the clinical workload of genetics services, but where demand within a single region is insufficient to justify setting up a laboratory service.

 2.3 Common non-inherited diseases where genetic factors confer susceptibility. The degree of susceptibility that is genetically determined may not be critical to the health of an individual, but testing may permit definition of the pathophysiological sub-type and selection of more specific treatment or appropriate lifestyle changes. At present few relevant genetic factors have been identified, but this is likely to change.

 2.4 This document concerns the second category of diseases. These can be defined as those where the current total UK genetic testing workload is stable and clinical demand is less than 100 requests per year. Examples of these so-called 'orphan' diseases include Tuberous Sclerosis and Von-Hippel Lindau disease (see appendix). This is a growing problem, given that many more diseases are becoming open to diagnostic testing with the rapid progress of the Human Genome Project and related work.

 2.5 There is a substantial current unmet need in genetic testing for rare disorders. A particular problem is the frequent discontinuity between the ending of research funding in individual disease studies and establishment of a service. This problem has been recognised by the European Union Research and Technological Development Framework Programme V and more precisely by the House of Commons Science and Technology Committee in its report Human Genetics: the Science and its Consequences 1994/5 - paragraph 13 5. 'It is particularly distressing that diagnosis for a rare inherited condition can be offered on one occasion since it is part of a research project, and withheld on another.'

 2.6 Within the present system there are several obstacles to establishing services for rare diseases:

2.7 Purchasers see too little demand from their population to justify establishing a service for any one disease.

2.8 Inefficiencies and inconsistencies within the Extra Contractual Referral system as a mechanism for funding service for rare disorders.

2.9 The NHS internal market inhibits the co-operation between centres required to co-ordinate services for rare disorders and its abolition gives the opportunity to review and facilitate this.

3 Principles:

 3.1 The ideal number of centres for any one rare disease is two. Having two centres provides the back-up necessary for reliability, facilitates quality assurance and encourages efficiency. Inefficiencies will develop and quality will suffer if services involving small numbers of cases are provided in a large number of centres.

 3.2 Availability of diagnostic services for rare disorders should be comprehensive and not dependent on the area of residence of the patient/family concerned. A reliable mechanism is required to ensure local access to the existing network of national specialist services.

 3.3 The UK should be largely self sufficient in clinical molecular genetics testing.

 3.4 Any scheme should fit into current funding and contracting arrangements but also be compatible with changes to the funding of specialist and Supra-Regional Services as outlined in the April 1998 Consultation Document 'The New NHS - Commissioning Specialised Services.'

 3.5 There is a need for a continuing overview of services and identification of developing need for genetic testing for rare disorders, with input from laboratory service providers, clinicians and patient groups.

 3.6 Beginning the scheme does not necessarily involve 'new money' but it does require an audit of current R&D and ECR funding in this area (see appendix 2) and a co-ordinated response to the need for genetic testing for rare disorders. It requires a new recognition at all levels within the NHS that start-up funds are required to evaluate services for rare genetic disorders. In addition it requires that this type of work, although having a very short lag time from research to service and often existing in intimate contact with research is more properly thought of as service evaluation and not fundamental biomedical research.

 3.7 The scheme is designed to foster a comprehensive coverage and to improve access to testing through widespread and efficient dissemination of information to clinicians and other health-care professionals on services for rare genetic conditions.

 4.1. Identification of need. The proposed Joint Medical Genetics Committee of the Royal Colleges of Pathologists and Physicians and the BSHG (which envisages representation from other Royal Colleges and patient interests) could be a mechanism to consider unmet need in rare disorders and to issue recommendations on areas requiring service development.

 4.2. UK Specialist Genetic Testing Network (UKGTN). The scheme should be organised as the UKGTN, with the aim of promoting efficient and comprehensive services of high quality for molecular diagnosis of rare genetic disorders. It should work through the existing clinical molecular genetics laboratories and consultant clinical geneticists.

 4.3. Access. A Web site should be established (preferably via the UK HGMP Resource Centre) to provide a service list including UKGTN categories. An updated hard copy list should be provided on an annual basis.

 4.4. Monitoring performance. Test turn-round times for current categories of disease and technique should be surveyed and target turn-round times published. In addition sample export and import between laboratories and new activities established under the UKGTN heading should be monitored. The CMGS Audit Committee is already active in this area.

 4.5. Measuring and maintaining quality. Mechanisms to introduce External Quality Assessment for rare disorders should be considered through the UK Molecular Genetics Quality Assessment Steering Committee and the European Molecular Genetics Quality Network.

 4.6. Funding requirement. Two centres should be considered for each disease and joint bids should be encouraged. Resources for each bid would need to be fully justified, but a centre might typically bid for one WTE scientist or technician, consumables and dedicated equipment.

 4.7. Funding options. Possible mechanisms for funding the UKGTN include:

4.8. Invitation for bids to establish service. A mechanism should be devised to allow bids to be submitted and peer reviewed.