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 is a depository of all UKGTN
information including the NHS Directory of Genetic Disorders/Genes for Diagnostic Testing that lists thediseases/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.
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 thesecond 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 ( ).Examples of the results are presented in Figures 1 and 2. The Clinical and Scientific Advisory Group endorsed the continuation of this work programme.
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
* 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.
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 standardisationof 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.
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 programmeare shared with member laboratories, NHS commissioners, service users andthe Departments of Health.
Dr Mark Kroese – UKGTN Public Health Advisor
Ms Jane Deller – UKGTN Programme Manager
24th July 2014
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