Molecular genetic test activity rates by the NHS in the United Kingdom
Introduction
UK Genetic Testing Network (UKGTN) was established by the Department of Health in
2002 in response to the Genetics white paper ‘Our Inheritance – Our Future; Realising the
potential of genetics in the NHS. The UKGTN is hosted by the North West London
Commissioning Support Unit and previously by the National Specialised Commissioning Team
based in NHS London and before that by NHS Bexley Care Trust.
The UKGTN advises the NHS on genetic testing. It promotes the provision of high quality
equitable genetic testing services for all NHS patients across the UK. This involves
evaluating new genetic tests that do not meet the NICE selection criteria, and making
recommendations to commissioners on new NHS genetic test services. The UKGTN leads and
provides support for the implementation of innovation within medical genetics in the NHS.
For example, the evaluation of genetic tests incorporating new technologies such a
array CGH, non-invasive prenatal diagnosis and Next Generation Sequencing.
The UKGTN covers a range of activities as follows:
Planning: to inform future service and commissioning policy within the NHS
Commissioning: to advise on genetic service developments and undertake specific
projects to promote equity of access to genetic tests
Laboratories: to provide assurance on the quality of testing services and promote
services that are fit for purpose, clinically useful, comparable and efficient
Evaluation of new tests for scientific validity and clinical utility that member
laboratories wish to provide on a national basis and make recommendations to the Clinical
Priorities Advisory Group.
Communications: The web site www.ukgtn.nhs.uk is a depository of all UKGTN
information including the NHS Directory of Genetic Disorders/Genes for Diagnostic Testing that
lists the diseases/genes for tests that have been approved and a database of testing services
provided by UKGTN member laboratories. The web site is an information source for
both NHS professionals and the public and is widely accessed.
Molecular genetic testing rates
In order to establish whether there is equitable provision of genetic tests to the UK population, it
is necessary to calculate the rate of molecular genetic tests provided per 100,000 population
resident in a geographical area in a year. The distribution of rare genetic diseases and low
volume tests is expected to vary for valid reasons between geographical areas and different
populations. By aggregating all the molecular genetic activity including high and low volume
tests for a particular population, an assumption can be made that all areas should within certain
limits have a similar level of overall genetic test provision if there is equity based on clinical
need. Significant variation can then be investigated to identify possible causes.
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This work programme is not part of a formal research programme. Its primary purpose is to
provide comparison NHS performance data for member laboratories and their commissioners
regarding molecular genetic test activity provision. In addition, it provides the UKGTN, the
Departments of Health, patient groups and professional groups with evidence in order to
understand better the level of access to NHS genetic testing across the UK population. The
analysis of the data collected is to be used to inform the development of NHS clinical
genetics services and contribute to the NHS diagnostic themed e-atlas of variation.
Caldicott Guardian approval was obtained for this work programme from the hosting
organisations of the UKGTN (pre 2009 Bexley Care Trust and post 2009 NHS London).The first
review for molecular test activity for the population in England was completed and approved by
the UKGTN Steering Group in March 2011 (covering activity for the years 2008/09 to 2010/11)
and the second review (2011/12 data) was approved by the Clinical and Scientific Advisory
Group (replaced Steering Group in September 2011) in September 2013. The full 2011/12
report is available from the UKGTN website (http://ukgtn.nhs.uk/our-work/ukgtnreportsguidelines/ukgtn-molecular-genetic-test-activity-rates-in-the-united-kingdom/ ). Examples
of the results are presented in Figures 1 and 2. The Clinical and Scientific Advisory Group
endorsed the continuation of this work programme.
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Figure 1 Age-standardised report rates per 100,000 population for all activity that met the
inclusion criteria, by high level commissioning health areas in the United Kingdom, 2011/12
ENGLAND (all Area Teams)
North Region
*Cheshire, Warrington and Wirral
United Kingdom
Durham, Darlington and Tees
Greater Manchester
Lancashire
Merseyside
*Cumbria, Northumberland, Tyne and Wear
North Yorkshire and The Humber
*South Yorkshire and Bassetlaw
West Yorkshire
Midlands and East Region
Arden, Herefordshire and Worcestershire
*Birmingham and the Black Country
Derbyshire and Nottinghamshire
*East Anglia
Essex
Hertfordshire and the South Midlands
*Leicestershire and Lincolnshire
Shropshire and Staffordshire
London Region
*{ North East London
*{ North West London
*{
South London
South Region
Bath, Gloucestershire, Swindon and Wiltshire
*Bristol, North Somerset, Somerset and South Gloucestershire
Devon, Cornwall and Isles of Scilly
Kent and Medway
*Surrey and Sussex
Thames Valley
*Wessex
SCOTLAND (all Health Boards)
Ayrshire and Arran
Borders
Fife
Greater Glasgow and Clyde
Highland
Lanarkshire
Grampian
Orkney
Lothian
Tayside
Forth Valley
Western Isles
Dumfries and Galloway
Shetland
NORTHERN IRELAND (all Commissioning Groups)
Belfast Commissioning Group
Northern Commissioning Group
Southern Commissioning Group
South Eastern Commissioning Group
Western Commissioning Group
0
50
100
150
200
250
300
350
400
450
Directly age-standardised genetic test report rate per 100,000 population
* Area Team responsible for specialised services; *{… London – integrated regional operating model (no single AT for specialised services).
The UK rate excludes test reports from Wales RGC which is a major provider of genetic testing for Wales residents. In 2010/11, test reports
from Wales RGC comprised 8% of the entire data collected for the UK, although only 23 laboratories provided data in that year out of 27
. Therefore the UK rate, shown as a comparator, is an underestimate.
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Figure 2: Example of age standardised rates for each Area Team and the PCTs in each Area
Team (to be replaced by CCGs for 2012/13 data)
Information Governance
Data
For the proposed data collections for the years 2012/13 and 2013/14, UKGTN member
laboratories need to provide a postcode and date of birth for each genetic test report issued.
The postcode is for the patient’s area of residence and the date of birth is to enable age
standardisation of rates. No other demographic data is requested. Laboratories are asked to
indicate which tests were for breast cancer, Huntingdon Disease, Fragile X and aneuploidies. In
addition they are asked to identify arrayCGH and MLPA types of tests. Cytogenetic tests are
flagged as either pre or post natal. All remaining tests are not labelled for their diagnostic
purpose. In cases where laboratories are unable to provide postcode data, the alternative of
providing the NHS/CHI number is recommended. The postcode can then be established for
each NHS/CHI number provided.
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The test report postcode collected only indicates an event of a genetic test analysis for a
resident individual performed by a particular laboratory in a financial year period. It does not
provide information regarding the place or time of the test taken, diagnostic purpose (except for
the categories described), the result of the test, name or sex of patient and it does not provide
any details of the clinicians involved in the care of a particular patient.
Information about where patients live is required in order to calculate genetic testing rates by
geographic area. The full resident postcode is used to achieve this. GP registration code will
not be sufficient in identifying where patients live as it is perfectly possible to live in one area but
register with a GP in another area. A partial postcode is not sufficient as partial postcodes can
indicate different areas, for example ‘EC1’ can be in Camden, City of London, Hackney or
Islington. In addition, the Office for National Statistics population estimates are used to calculate
the age standardised rates (ASRs) and these are based on resident estimates and not GP
registered populations. Therefore, to enable calculation of ASRs both the number of people that
had genetic testing (numerator data) and population (denominator) must be consistent, i.e.
resident based.
The whole exercise of the analysis is to determine the variation between areas with regard to
access to genetic testing and only full postcodes will provide the level of granularity to achieve
this.
All results of the activity review will be presented as aggregated and anonymised population
rates of genetic test activity for CCG, Area Teams and regional populations in England and
equivalent healthcare boundaries in the devolved countries.
Conclusion
The UKGTN has established the first national population genetic test activity review process.
Results of this work programme are shared with member laboratories, NHS commissioners,
service users and the Departments of Health.
Dr Mark Kroese – UKGTN Public Health Advisor
Ms Jane Deller – UKGTN Programme Manager
24th July 2014
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