27 May 1998

The Council of the British Society for Human Genetics (BSHG) considered the above consultation document at its meeting on 21 May 1998. The following represents the Society’s response to the specific consultation points in the document, together with more general points relevant to commissioning genetic services.

The BSHG has four constituent societies (The Clinical Genetics Society, The Clinical Molecular Genetics Society, The Association of Clinical Cytogeneticists and The Association of Genetic Nurses and Counsellors) and represents all professional groups involved in the provision of genetic services in the United Kingdom.

 

1. Scope of Genetic Services and Current Situation:

 

1. Clinical Genetics Services in the UK have developed as multidisciplinary regional centres with strong links with academic human genetics and with one another. Services in many regions have previously been regionally and/or lead purchased and, recognising that clinical and laboratory services need close links, coordination in purchasing of all elements of regional services has been encouraged.

 

2. The primary aim of genetic services is to help those individuals and families disadvantaged by genetic disorders live and reproduce as normally as possible. Genetic centres are distinguished by the fact that diagnosis, investigations, counselling and support is given for disorders affecting any organ system or at any age. Records are kindred based and multigenerational.

 

3. Considerable expertise has been built up in the sensitive, responsive and ethical delivery of clinical and laboratory services for a wide range of genetic disorders. Such expertise can be used for development of services for further conditions as research and technological advances allow. Effective working relationships have been established with age and systems specialists as well as with those in primary care.

 

4. For certain conditions, regionally based Genetic Family Register Services have been established. For some rare conditions, national and supraregional services have been established eg Haemoglobinopathy National Reference Laboratory. The BSHG supports the continuation of such services.

 

2. Established National Diagnostic/Treatment Networks and Previous Communications concerning national coordination of services:

 

1. Close collaborations between regional centres and professional groups has resulted in the establishment of a number of highly successful and effective national networks to ensure that particular expertise is utilised to the benefit of patients from any region. The BSHG believe that these networks should be supported and further developed. Examples include the cancer families study group, the Dysmorphology Group for Diagnosis of Rare Patterns of Birth Defects, the CMGS Best Practice Meetings, the ACC Working Parties and the Predictive Testing Consortium.

 

2. The BSHG set up a working party to produce recommendations for coordinated arrangements for genetic testing for rare disorders. This was in response to the service need for families with rare disorders where numbers were too few for testing to be set up in every region. It was recognised that a mechanism needed to be developed to transfer tests developed in research into the development and evaluation stage and ultimately into service. A copy of this working party document is available on this website

 

3. The Chairman of the BSHG wrote in 1998 to health ministers concerning the need for recognition of genetic services as specialised.

 

4. Preliminary discussions are taking place between the MRC and the NHS R&D, recognising the need for a mechanism to translate tests developed under research protocols into service whilst continuing to capture clinical and molecular information which may further inform research.

 

3. Response to specific consultation points in discussion document:

The definition of specialised services ie those provided in tertiary centres, usually accessed by referral from consultants, for patients with complex or rare conditions, and serving a population base wider than a single HA is a helpful definition. The specialty of Clinical Genetics fulfils these criteria in all respects. Genetic services are organised regionally and comprise multidisciplinary groups of staff (in clinical and laboratory settings) providing diagnosis, investigation and counselling for individuals and families with birth defects and inherited disorders. Many of the conditions are very rare but, collectively, 2% of newborns have or will develop a monogenic chromosomal disorder or birth defect.

Genetic services would be very suitable for early action in regional commissioning since many are (or have been) regionally or lead purchased in the past. Many centres have a long track record in working closely with purchasers in developing the services and in collective approaches nationally through professional organisations (Royal Colleges and BSHG). There are urgent issues to be addressed in the rapidly changing field of clinical genetics. Examples include molecular testing for rare disorders (see proposal in appendix), new cytogenetic techniques for diagnosing the cause of mental retardation and a major increase in referrals because of cancer family history.

RSCG’s could well benefit from interaction with the Public Health Genetics Network being established and based in Anglia and Oxford, and from local and national professional input.

Whilst PCG/T will need to be fully informed and to make contributions to regional commissioning groups about genetic services, it is unlikely that a single group will have sufficient experience to take a sufficiently broad view about the structure and development of specific genetic services.

We strongly endorse the need for professional advice about genetic services to RSCG’s. This process should occur locally and the BSHG feels that there should be clinical and scientific representation on local groups. RSCG’s should also be aware of the views of professional bodies such as the recently established Joint Genetic Committee (formed by the Royal Colleges of Physicians and Pathologists and the BSHG with representation from other colleges and patient organisations) to ensure equal access to services nationally.

We also strongly endorse the involvement of service users. The Genetic Interest Group (GIG), an alliance of support groups and voluntary organisations, has recently produced a document entitled "Guidelines for Genetic Services". Where such umbrella organisations exist, their views will be most helpful in commissioning services. The involvement of other specialty users would also be valuable.

No comment other than regarding professional advice (see response to para 16).

viii (para 21): No comment.

We would anticipate that genetic services will need group commissioning for the foreseeable future, given that this is a rapidly changing field, both in terms of available technology and in individual disease provision and to ensure equality of access nationally and the development of an effective national service framework for Genetics.

Service development is a crucial part of genetic service provision and maintenance of quality, given the rapid changes. Mechanisms need to be developed to translate beneficial research findings into service in a framework which allows for evaluation and further development. Patient groups who collaborate in research need to be reassured that once the research is over the service will continue if proven to have benefits.

The BSHG recognises the importance of an academic infrastructure for regional services, both for biomedical and psychosocial research.

The BSHG has made a proposal for coordinated arrangements for genetic testing for rare disorders (see website). This document, which has been sent to the Chief Medical Officer, entitled "UK Specialist Genetic Testing Network (UKGTN), has the full support of all of the professional groups which comprise the BSHG. Currently, some genetic testing for rare disorders is carried out on an ad hoc basis, with funding coming through ECR payments. A proper mechanism needs to be established to continue work previously funded by ECRs, which have been estimated in value annually at �615,000. Any planned replacement for ECR funding within Regions should also recognise the supra-Regional nature of the current genetic testing network.