RESPONSE TO THE PUBLIC CONSULTATION:
LIBERATING THE NHS: TRANSPARENCY IN OUTCOMES – A FRAMEWORK FOR THE NHS
Submission by:
Project Team:
Programme Director
Clinical Advisor:
Scientific Advisor (molecular):
Scientific Advisor (cytogenetic):
Public Health Advisor
UK Genetic Testing Network (UKGTN) Project Team
Jacquie Westwood
Dr Shehla Mohammed
(Consultant Geneticist and Head of Service, Guys & St Thomas’
Hospital)
Su Stenhouse
(Head of Laboratory, South West Scotland Regional Genetics
Centre, Glasgow)
Val Davison
(Head of Laboratory, Birmingham Regional Genetics Centre)
Dr Mark Kroese
(Consultant in Public Health, Peterborough PCT)
UKGTN Knowledge & Communications Manager
UKGTN Programme Manager
UKGTN Business & Corporate Support Officer
Contact:
Dr Jacqui Hoyle
Jane Deller
Tarita Turtiainen
UKGTN, c/o NHS Specialised Services, NHS London, 2nd Floor Southside, 105 Victoria
Street, London, SW1E 6QT
Tel: 020 7932 3969, email: UKGTN.Enquiries@london.nhs.uk
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’ UKGTN was set up to prepare NHS genetic laboratories for the future. The
role was to facilitate co-operation and work sharing between different laboratories in collaboration with the
National Genetics Reference Laboratories. Recently the Government response to the House of Lords
report on Genomic Medicine has named UKGTN as an organisation that will facilitate change in the NHS
in response to genomic advances. 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 a key note
address. The conference will cover care pathways, provider efficiency, reducing inefficiencies in diagnostics,
organisation of laboratories, system efficiencies and inspiring innovation.
UKGTN is a clinical network of NHS laboratory scientists, clinical geneticists that collaborate with genetics
commissioners and patient representatives. The Steering Group is Chaired by Professor Peter Farndon.
UKGTN aims to promote the provision of high quality equitable genetic testing services for NHS
patients across the UK. This involves evaluating new tests that would not meet the NICE diagnostic
selection criteria and recommending to specialised services commissioners those appropriate for service.
There are 52 member laboratories from regional genetics and other specialist laboratories. A small project
team and four working groups carry out the work 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 NICE Diagnostic Programme Board to ensure there is no duplication in
the evaluation of genetic tests. UKGTN advises the Diagnostic Programme Board of new developments that
have wider implications for NHS which may benefit from an evaluation by NICE. The UKGTN seeks to link
the UKGTN Testing Criteria with NICE quality standards where appropriate.
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Q1 Do you agree with the key principles which will underpin the development of the NHS
Outcome Framework?
The UKGTN is supportive of the key principles.
Q3 How can we ensure that the NHS Outcomes Framework will deliver more equitable
outcomes and contribute to a reduction in health inequalities?
It is estimated that 3.5 million people across the UK are affected by a rare condition. The outcome
measures need to be developed and apply to patients with rare conditions and to specialised
services commissioning to ensure equity across all patient groups.
Associated with the
development of such outcome measures for specialised services it will be necessary to develop
the supporting data systems for the measurement of these outcomes from routine NHS information
systems.
Q5 Do you agree with the five outcome domains that are proposed in Figure 1 as making up
the NHS Outcomes Framework?
The UKGTN agrees to the five outcome domains that are being proposed. Domain 1 “preventing
people from dying prematurely” and domain 2 “enhancing quality of life for people with long-term
conditions” are particularly relevant to patients with rare diseases. Genetic testing for rare
diseases, in some cases, prevents poor outcomes by allowing early interventions and thereby
enhancing quality of life. Domain 4 “ensuring people have a positive experience of care” is
relevant for patients with rare conditions particularly around obtaining a diagnosis. The UKGTN is
aware of many cases where the time to diagnosis for patients with rare conditions is particularly
long due to a lack of awareness by healthcare professionals that they encounter. Patients with
rare disorders can experience a long journey to diagnosis within the NHS resulting in delays in
commencement of the treatment and management of their condition. Domain 5 “treating and
caring for people in a safe environment and protecting them from avoidable harm” is relevant to
patients requiring laboratory diagnostics to ensure the quality standards of the laboratories and
validity of the testing provided and the results.
Q7 Does the proposed structure of the NHS Outcomes Framework under each domain seem
sensible?
UKGTN agrees to the proposed structure under each domain. The over arching indicators for
each domain and the improvement areas with associated outcome indicators should be equally
applicable to specialised services and to mainstream services. Development of quality
standards must include standards for rare conditions. There is a risk that development of
quality standards for rare conditions may be neglected to prioritise standards for conditions that
affect larger populations. UKGTN would suggest that there should be two strands for prioritising
and developing quality standards 1) for GP commissioned services and 2) for specialised services,
thereby encouraging the development of quality standards for rare conditions in parallel to
development of quality standards for common conditions.
Domain 1: Preventing People from dying prematurely
Q8 Is “mortality amenable to healthcare” an appropriate overarching outcome indicator to
use for this domain? Are there any others that should be considered?
The UKGTN supports this overarching outcome indicator. It needs to ensure that this indicator is
applicable to rare conditions. For example early diagnosis of genetic conditions many of which can
be multisystem disorders enables early intervention, monitoring and in some situations prophylactic
treatment. A specific early genetics diagnosis can enable appropriate surveillance to be put in
place e.g for many inherited cancer syndromes or inherited cardiovascular genetic disorders.
Prophylactic treatment can prevent catastrophic vascular events (e.g aneurysms /dissection of the
aorta) thereby reducing health care burden and improving long term outcome.
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Q9 Do you think this is an appropriate way to select improvement areas in this domain?
International comparisons of mortality rates for particular conditions could be one method to select
improvement areas. There is a concern that rare conditions will never be seen as a priority for
improvement in this domain if this is the only method to determine improvement areas due to the
small population affected and the lack of adequate coding for rare diseases. Therefore UKGTN
would suggest two strands for improvement areas 1) for GP commissioned services and 2) for
specialised services to ensure that patients with rare conditions are not neglected over patients
with more common conditions.
Q12 Are either of these appropriate areas of focus for mortality in children? Should
anything else be considered?
The UKGTN supports these areas of focus as rare inherited disorders and congenital abnormalities
are important contributors to infant mortality in the United Kingdom. However there should also be
an indicator for multi-system rare inherited conditions in children age 0-16. Equitable access to
early diagnosis by comprehensive genetic testing enables appropriate early surveillance to be
instigated to reduce co-morbidities of numerous multisystem genetic disorders. An indicator for
children with rare inherited disorders would enable the rate of mortality to be measured.
Domain 2: Enhancing quality of life for people with long-term conditions
Q13 Are either of these appropriate overarching outcome indicators for this domain? Are
there any other outcome indicators that should be considered?
The UKGTN supports the use of these overarching indicators however recommends in addition the
use of specific patient surveys for services looking after patients with rare and complex disorders.
Q15 As well as developing Quality Standards for specific long-term conditions, are there
any cross-cutting topics relevant to long-term conditions that should be considered?
The use of genetic testing to indicate drug usage and dosage (companion diagnostics) will cut
across many specialties and the quality standards will need to include companion diagnostics as
appropriate. Genetic testing to indicate increased risk of common conditions will also cut across
many specialties. Genetic profiling of tumours to indicate treatment options is cross cutting across
oncology specialties.
Domain 4: Ensuring people have a positive experience of care
Q23 Would there be benefit in developing dedicated patient experience Quality Standards
for certain services or client groups? If yes, which areas should be considered?
People with rare diseases are often not included in the main patient experience surveys as they
may fall outside of acute care, in-patient care and primary and community services. UKGTN would
suggest that dedicated patient experience Quality Standards are developed for people with rare
diseases. Surveys need to be a key part of service specifications and designation criteria for rare
condition specialties.
Domain 5: Treating and caring for people in a safe environment and protecting them from
avoidable harm
Q25 Do you agree with the proposed overarching outcome indicator?
The number of incidents reported should include laboratory misdiagnosis as incorrect diagnosis
following laboratory reported results could lead to mismanagement which may lead to harm.
Laboratories that are used by the NHS should be quality assured and accredited by CPA to ISO
15189 standards to minimise this risk.
Q26 Do you agree with the proposed improvement areas and the reasons for choosing
those areas?
The UKGTN supports the improvements areas identified and the reasons for choosing these
areas. The identified improvement areas are relevant and important for all types of healthcare in
the UK.
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Next steps: how can you be involved?
Q27 What action needs to be taken to ensure that no-one is disadvantaged by the
proposals, and how do you think they can promote equality of opportunity and outcomes
for all patients and, where appropriate, NHS staff?
The outcome indicators and quality standards need to be applicable to both GP commissioned
services and to specialised services. Where the indicators/quality standards cannot be applied to
both types of services then they should be developed in parallel to ensure that patients with rare
diseases are not disadvantaged. There needs to be close liaison between NHS commissioners
and professional bodies, in the case of genetics this would include the Clinical Molecular Genetics
Society, the Joint Committee for Medical Genetics (Royal College of Physcians) and the British
Society for Human Genetics, to enhance the links between specialist and local services.
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