RESPONSE TO THE PUBLIC CONSULTATION:
LIBERATING THE NHS: COMMISSIONING FOR PATIENTS
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.
1
RESPONSIBILITIES
In what practical ways can the NHS Commissioning Board most effectively engage GP
consortia in influencing the commissioning of national and regional specialised services
and the commissioning of maternity services
Care pathway management is the best way of involving the GP consortia in the management of
services at all levels. The Map of Medicine provides a number of care pathways which could be
linked to the developing NICE quality standards. Specialised laboratory services, including the
companion diagnostics (e.g. herceptin), should be incorporated into the relevant pathways where
applicable.
How can the NHS Commissioning Board and GP consortia best work together to ensure
effective commissioning of low volume services?.
The Genetics Education and Development Centre engages with all clinicians in order to provide
effective resources in the management of genetic conditions.
For the commissioning of low volume services not covered by Specialised Services National
Definition Set (SSNDS) it is critical that collaborative commissioning arrangements are developed
between GP consortia including supporting governance arrangements or alternatively this
responsibility could be placed with the NHS Commissioning Board working with GP consortia.
FREEDOMS, CONTROLS AND ACCOUNTABILIES
Are these the right criteria for an effective system of financial risk management? What
support will GP consortia need to help hem manage risk
UKGTN supports risk share across specialised services and its links with diagnostics. It considers
that specialised services should have a standalone budget that is not linked with GP consortia as
usually the referrers to medical genetics and requests for tests are from clinical consultants.
Furthermore, as part of the care pathways for genetic conditions clinical consultants are tasked
with gate keeping and triaging requests to ensure clinical appropriateness.
Advances in genomic medicine will impact on all levels of commissioning including GP consortia
who will commission services that are not contained in the SSNDS such as Haematology and
Familial Hypercholesterolemia. It is important to recognise that specialties undertaking genetic
tests can optimise efficiencies as the tests can replace other diagnostic investigations within the
care pathway.
Gene Dossiers include testing criteria which list the types of medical professionals that should be
ordering the test and the phenotypic presentation where it would be appropriate to request testing.
The testing criteria draws on information and evidence provided in the submitted evaluation forms.
Healthcare professionals have reported that these criteria are a useful tool when considering
whether or not to order a genetic test for a patient. Clinical scientists find it helpful when
considering if it is appropriate to test and to gatekeep requests ensuring appropriate use of
resources.
Currently the UKGTN is gathering information on the current commissioning arrangements in place
in each SCG for genetic testing services to inform a consistent approach to commissioning and
inform model contracts including risk share.
The UKGTN has worked in collaboration with the Clinical Molecular Genetics Society to develop a
standard currency to measure workload in molecular genetics diagnostic laboratories. The unit of
measurement is the final patient report which can be easily counted and represents the outcome of
the molecular diagnostic process. A PCR amplicon or its equivalent grades the complexity of the
2
report. This is easily counted for any test and provides transparency. For each band a multiplier is
assigned, the “weight” of that band. The number of reports issued for diseases in that band is
multiplied by the weight for the band to give a final workload figure which has been termed
Molecular Units – MolUs. The system is flexible and can be adapted to take account of
developing technologies and automation. It is recognised that this system could be applied in
development of national tariffs.
The UKGTN supports the use of ICD-10 although UKGTN has found that it is not sufficient to cover
all the genetic conditions for coding within Trusts. The UKGTN has been liaising with the National
Genetics Reference Laboratory on the international development to improve the coding and
classification of genetic conditions to address the deficit in information available for recording
clinical management for rare conditions. It is expected that the World Health Organisation will
publish ICD-11 in 2014 that will contain improved genetic coding.
What are the key elements that you would expect to see reflected in a commissioning
outcomes framework
The UKGTN would expect to see standards for high quality services in the commissioning
outcomes framework.
The UKGTN promotes quality standards in genetic testing. UKGTN Membership is conditional
on the laboratory meeting the required quality criteria (e.g. Clinical Pathology Accreditation) and
participating in External Quality Assurance schemes. UKGTN membership is therefore an
indicator of quality and provides reassurance in the safety of the testing services provided.
The UKGTN has an internationally recognised process (commonly referred to as the “Gene
Dossier process”) to evaluate new genetic tests (within its scope) being proposed for NHS service
nationally from its member laboratories. Tests that meet the UKGTN evaluation process are
recommended to commissioners for funding. The NHS Directory of Genetic Testing is reviewed
annually listing all the tests that have been through this process and the associated testing criteria
to promote appropriate referrals.
Currently there are 487 diseases on Directory which
equates to 659 tests (i.e. disease/gene pairs). The Genetic Alliance UK (formerly the Genetic
Interest Group) reports that patients have recognised the increased availability of genetic
tests because of the UKGTN system. Different approaches are used internationally, but the UK
is seen as a world leader in an equitable provision of genetic tests
The UKGTN recommends tests on the basis of testing criteria which essentially lists the types of
medical professionals that should be ordering the test and the phenotypic presentation where it
would be appropriate to request testing. The testing criteria draws on information and peer –
reviewed evidence provided in the evaluation forms. Healthcare professionals have reported that
these criteria are a useful tool when considering whether or not to order a genetic test for a patient.
Clinical scientists find it helpful when considering if it is appropriate to test.
The UKGTN, in collaboration with the PHG Foundation, has developed a commissioning
guideline for ophthalmology services for patients with inherited eye conditions and will develop
future commissioning guidelines as required for inherited conditions.
Education in genetics for all disciplines within the NHS is essential. Clinical experts in genetics
and non genetics across the disciplines have an important mutual role to play in order to develop
skills and competencies within care pathways. The National Genetics Education and Development
Centre provides resources to facilitate a wider knowledge base across specialities and
commissioning organisations.
3
PARTNERSHIP
How can GP consortia and the NHS Commissioning Board best involve patients in making
decisions that are built on patient insight
GP consortia and the NHS Commissioning Board would need to involve patient support groups
and patients in decision making, especially around development of care pathways. Involvement
could be from representatives nominated by patient support groups. Workshops and working
groups focusing on particular areas of care and either nationally or regionally based could be used
as a method to gain patient insight.
The UKGTN is committed to working more closely with patient support groups and has already
included patient representation by involving the main patient interest group for medical genetics,
Genetic Alliance UK. This organisation is an umbrella group for over 130 individual support groups
for inherited genetic conditions.
The UKGTN and Genetic Alliance UK recently held a workshop to explore the problems
encountered by patients with rare inherited conditions in getting a diagnosis. Following the
workshop recommendations are being put forward to support professionals in diagnosing patients
with rare inherited conditions. Future regular meetings between UKGTN and a range of patient
support groups are planned to ensure that patients continue to have a strong voice in addressing
key issues in their care pathway.
How can multi-professional involvement in commissioning most effectively be promoted
and sustained
Multi professional involvement in commissioning can be promoted through professional networks
that include all groups involved in delivering a service i.e. clinicians, commissioners, patients and
other healthcare professionals involved in the care for example clinical scientists. UKGTN is an
excellent example in a specialised service of how working collaboratively within a network enables
an effective systematic approach to support the equitable commissioning of services.
For rare conditions it may be more efficient to support national networks. The UKGTN, as the
name suggests, is a network for the whole of the UK. It allows for co-ordination of genetic testing
services across the UK and avoids duplication (by doing things once). It provides a one-stop forum
for healthcare professionals involved in providing genetic services, patient support groups for
inherited conditions and commissioners to influence policy development and national delivery of
services.
For example, the UKGTN supported the introduction of array CGH technology in
cytogenetic laboratories by evaluating the clinical utility and providing robust advice to
commissioners.
The UKGTN website includes an online database which lists all the member laboratories and the
testing services that they provide. This database is searchable by geographic area, by condition
and by gene/OMIM number. Clinicians and scientists find the website an invaluable tool and the
general public use it to see which centres provide which testing and may call the centres directly
for clinical advice.
4