RESPONSE TO THE RARE DISEASE UK WORKING GROUPS CONSULTATION
Submission by: UK Genetic Testing Network (UKGTN) Project Team
Project Team:
Programme Director Jacquie Westwood
Clinical Advisor: Dr Shehla Mohammed
(Consultant Geneticist and Head of Service, Guys & St Thomas’ Hospital)
Scientific Advisor (molecular): Su Stenhouse
(Head of Laboratory, South West Scotland Regional Genetics Centre, Glasgow)
Scientific Advisor (cytogenetic): Val Davison
(Head of Laboratory, Birmingham Regional Genetics Centre)
Public Health Advisor Dr Mark Kroese
(Consultant in Public Health, Peterborough PCT)
UKGTN Knowledge & Communications Manager Dr Jacqui Hoyle
UKGTN Programme Manager Jane Deller
UKGTN Business & Corporate Support Officer Tarita Turtiainen
Contact: UKGTN, c/o NHS Specialised Services, NHS London, 2nd Floor Southside, 105 Victoria Street, London, SW1E 6QT
Tel: 020 7932 3969, email:
The United Kingdom Genetic Testing Network: Context
The UKGTN Steering Group was established in 2002 and is part of NHS Specialised Services hosted by NHS London. Prior to the publication of the White Paper ‘Our Inheritance – Our Future; Realising the potential of genetics in the NHS’, the UKGTN was established to assist NHS genetic laboratories to prepare for the future. The role was to facilitate co-operation and work sharing between laboratories in collaboration with the National Genetics Reference Laboratories.
Recently the Government response to the House of Lords report on Genomic Medicine has named the UKGTN as an organisation that will facilitate change in the NHS and be responsive to advances in genomic medicine. UKGTN is also working with member laboratories on related aspects outlined in the Department of Health’s Response to the Report of the Second Phase of Independent Review of NHS Pathology Services in England focusing on quality, innovation, prevention and productivity (QIPP). The UKGTN supports QIPP and will be holding a national conference in November 2010 based around the QIPP agenda. Professor Sir John Burn will Chair the conference and provide the key note address. The conference will cover care pathways, provider efficiency, reducing inefficiencies in diagnostics, organisation of laboratories, system efficiencies and inspiring innovation. It will be attended by a wide variety of professionals and patient support groups and will include the patients’ perspective and experience of genetic services.
The UKGTN is a clinical network of NHS member laboratories, clinical scientists, clinical geneticists specialised services commissioners and patient representatives. The Steering Group is Chaired by Professor Peter Farndon (Director of the NHS National Genetics Education & Development Centre, Birmingham). The UKGTN aims to promote the provision of high quality equitable genetic testing services for NHS patients across the UK. This involves the evaluation of new tests that would not meet the NICE diagnostic selection criteria and recommending those appropriate for clinical service to specialised services commissioners. There are 52 member laboratories from regional genetics centres and other specialist laboratories. A small project team and four defined working groups carry out a wide reaching and comprehensive work programme on behalf of the Steering Group. The working group members are nominated representatives from healthcare professional groups, member laboratories and patient representatives from across the UK.
UKGTN has established links with the NICE Diagnostic Programme Board to ensure that there is no duplication in the evaluation of genetic tests. The UKGTN advises the Diagnostic Programme Board of new developments that have wider implications for the NHS which may benefit from an evaluation by NICE. The UKGTN seeks to link the UKGTN Testing Criteria with NICE quality standards where appropriate.
The UKGTN has not responded to all the issues and recommendations in the consultation document but to those most pertinent to its current and future work.
Coordination of Research Working Group
Issue 3
There are difficulties in the development of new diagnostic tests for rare diseases. Setting up new and rare genetic tests can be time consuming, costly, and because of the small target population, may not be seen as cost effective. NHS Trusts in the UK have set stringent savings targets meaning laboratories involved in the development of new tests have to rationalise their services and be more productive. Commissioning bodies can be very slow to respond to requests to fund an expanding repertoire of genetic tests. Getting approval of the clinical utility of a genetic test from the UK Genetic Testing Network (UKGTN) involves a very robust and evidence-based system but can be very bureaucratic and slow and is principally designed for single gene disorders, which adds another difficulty to the introduction of new diagnostic tests. The National Institute for Health Research (NIHR) currently excludes funding for laboratory aspects of the development, testing and evaluation of novel genetic tests, so funding for this has to come from elsewhere and may be difficult to find.
Recommendation 4
Measures should be taken to encourage the development of diagnostic tests. There needs to be a more national approach to the development of rare genetic tests to avoid duplication and to develop consortium approaches. SCOBEC Genetics Laboratory Network is a collaboration of 6 molecular genetics laboratories in the UK that through their work together have been successful in increasing the capacity, and reducing the costs, of genetic tests. An initiative such as this could be expanded to produce the required national approach.
There is a need for an appraisal of the UKGTN gene dossier processes to identify ways in which it could be simplified or streamlined to speed up the progress from submission to approval of genetic tests.
UKGTN response
The UKGTN encourages a national approach to the development of rare genetic tests with the aim to avoid duplication of services.
The UKGTN established the gene dossier process to advise commissioners of tests that are provided by member laboratories and have been evaluated for analytical and clinical validity and clinical utility to aid clinical decision making. The gene dossier process has been organised to support and inform the NHS commissioning cycle. It includes a multi-disciplinary evaluation group. Funding decisions are agreed annually between providers and commissioners when establishing contracts and the UKGTN provides a list of recommendations with regards to evaluated genetic tests to commissioners annually.
The outcome of a gene dossier evaluation can lead to a requirement for more information or clarification to be provided by the laboratory and this is usually the time consuming step for both the laboratory and the UKGTN. In order to maintain the robust evidence based nature of the process and provide the necessary information for NHS commissioners, these clarifications and collation of the supporting evidence are essential. The UKGTN has experienced a significant increase in gene dossier applications since it was established in 2004 and in the 2009/2010 cycle 69 gene dossiers were evaluated. In total the UKGTN has evaluated 200 gene dossiers for new tests between 2004 and 2009. For the majority of genetic tests evaluated by the UKGTN, the evaluation is completed within 3-4 months. This compares favourably to other diagnostic test evaluation processes. It should be noted that as recommendations for the provision of new genetic tests are presented to NHS commissioners once a year, an evaluation completed sooner will not impact on timing of funding decision and implementation.
The UKGTN has continuously sought to stream line the process e.g. introduction of the very rare disease gene dossier process and the documentation is revised annually to encourage provision of the information required on first application and thereby minimise the need to re-evaluate gene dossiers. It welcomes feedback particularly from members and those who have been involved in the process and all such feedback is considered as part of the annual review of the process. In addition, two specific gene dossier workshops have been held.
The gene dossier process is not restricted to single gene disorders and has been used to evaluate testing for learning disabilities that uses arrayCGH technology. The UKGTN agrees that currently it is principally used for individual conditions but these can be multi gene e.g. Long QT syndrome. The use of the gene dossier process is also restricted by the remit of the UKGTN which is to evaluate gene dossiers for tests provided by member laboratories for NHS service which will require funding by specialised commissioning arrangements, supporting provision of clinical genetics services as defined in the national definition set for medical genetics. Currently the UKGTN does not have the work force or expert capacity to extend this remit.
The UKGTN also works to ensure that member laboratories are aware of the services being provided by other laboratories, to avoid duplication, through the online database. The UKGTN is an advisory body and cannot dictate the number of laboratories that should be providing a particular test or prevent laboratories from providing any test. The document refers to the SCOBEC network but there are other local networks also working to avoid duplication e.g. Sheffield and Leeds, the London consortium and the Scottish Genetics Laboratory Consortium.
Prevention and Diagnosis Working Group
Issue 1
There is a lack of awareness and identification of rare diseases amongst healthcare professionals, frequently leading to a delay in diagnosis or misdiagnosis of rare disease patients. This results in a delay in access to necessary treatment, therapy or effective management of the condition, as well as an inefficient use of NHS resources due to multiple avoidable appointments with various consultants, and incorrect treatments and diagnostic tests. A delay in diagnosis can cause a reduction in the patient’s life expectancy and quality of life; whereas a misdiagnosis can result in a patient receiving treatment for a condition, often for a more common condition, which they do not have.
Recommendation 1
Increase healthcare professionals’ knowledge and awareness of rare diseases. This can be achieved by including rare diseases in the curriculum for medical, and other healthcare professional, students; providing ongoing training through CPD/CME in rare diseases for healthcare professionals and improving the training of secondary healthcare professionals in basic genetics. Increased awareness and knowledge will ensure that rare diseases are considered when a diagnosis is being made, so facilitating the diagnostic process. It is obviously not possible for all health professionals to know about all rare conditions, but clinicians must develop strategies that make it more likely that they will give earlier consideration to referring patients to specialist consultants when they are unable to diagnose a patient and there may therefore be a possibility that the condition is rare.
The National Genetics Education and Development Centre is a Department of Health (DH) funded centre that works to facilitate the integration of genetics into the education of healthcare professionals. They run events to educate healthcare professionals on genetics and the impact genetics can have on health, and have online links to other useful resources such as Telling Stories which was developed to promote understanding of genetic conditions based on real-life examples. Although not all rare conditions are genetic, projects such as these are useful reliable
sources of information that can help to raise awareness of these conditions to the relevant people. Similar initiatives to cover rare diseases would be very helpful to take this further.
Recommendation 2
There is the need for improved linkage between specialist centres and local services to enable education of local healthcare professionals. This could include staff exchanges, where staff from the specialist centres go and educate staff at local services, or a „hub and spoke. model in
which specialist centres feed out information to local clinics. Effective commissioning structures could create the framework to achieve this necessary vertical integration.
UKGTN response
The UKGTN is aware of the lack of awareness of rare diseases by many sectors of healthcare professionals and is highly supportive of the work by the National Genetics Education and Development Centre.
The UKGTN also recently held a workshop with Genetic Alliance UK to explore the problems encountered by patients in obtaining a diagnosis and subsequently appropriate management of their conditions. The workshop highlighted a number of areas for improvement and the following recommendations around training were agreed:
· Provide specialist training on genetic conditions to medical students.
· Provide training on how to use diagnostic databases.
· Raise awareness among health professionals of genetic conditions.
· Create guidance (“index of suspicion”) and an implementation plan to doctors which will guide them to refer patients on and to the right specialist.
· Train doctors to take a holistic approach to assessing and diagnosing patients
· Provide and increase education to GPs.
· Integrate and systemize the expansions and improvements in medicine and genetics into doctors’ continuous professional development.
The workshop also agreed that it would be helpful to have a named clinician(s) against each of the conditions listed in the NHS Directory for Genetic Testing as a source of advice for clinicians. This proposal is being actively explored.
Issue 4
There is inequity of access to diagnostic tests across the UK. This can result in a more lengthy process to obtain a diagnosis in some areas, meaning these patients experience a delay in getting necessary treatment purely because of where they live.
Recommendation 5
There must be improved access to diagnostic tests in areas of the UK where this is lacking to ensure equity of access throughout the country. An appraisal of what tests are currently available where should be carried out to identify where the gaps in services are. These gaps should then be addressed and improved upon to ensure that diagnostic tests are readily available to all that need them regardless of their location.
UKGTN response
The UKGTN has an over arching aim to promote equity of access to genetic testing for NHS patients. Obtaining data to establish the level of access to diagnostic genetic tests is vital to ensuring equity of access. There is currently no systematic national approach to obtain this information. The UKGTN is working with its members and NHS partners to establish such a process. However, it has been challenging to achieve progress due to limitations in the laboratory IT systems, and as a consequence data handling and analysis. UKGTN also provides an online database of tests that each member laboratory provides.
Issue 5
There are no clear guidelines as to when to discuss or consider carrier testing, pre-implantation genetic diagnosis or pre-natal testing. These three things may be of importance to families affected by rare diseases so it is necessary to ensure that there are clear guidelines to follow so that patients across the UK all get equal access and information on the processes.