Genomic Medicine - Science and Technology Committee Contents



4.1.  Advances in genomic science have already led to some new developments in clinical practice (see Chapter 2). Further changes to patient care are likely to include:

  • advances in diagnostics and treatments both for rare genetic diseases and for single-gene subtypes of more common diseases;
  • improved efficacy of treatments through stratification of patient groups;
  • improved safety of treatments, with a reduction in adverse reactions;
  • more effective screening for an increasing number of diseases; and, eventually,
  • preventative healthcare through predictive tests for common diseases.

4.2.  Although these advances will lead to improvements in the delivery of healthcare services in the NHS, they will also present significant challenges. As genomic medicine develops, commissioning systems for genetic tests, the structure of laboratory services for the provision of genetic (and other) tests and patient care pathways will need to adapt in order to ensure that appropriate additional steps are integrated into the healthcare service (for example, carrying out a genetic test as part of a patient's care, interpreting and communicating the results appropriately and adjusting treatments accordingly). This has significant cost implications for the NHS and will require careful planning for the provision of such services in the future. We have therefore—where possible—considered changes to the current service configurations with a view to cost savings in the long run.

4.3.  We are aware that, at present, some genetic tests which are available now have not been integrated properly into the healthcare service—for example, diagnostic tests to identify and personalise treatments for single-gene subtypes of common diseases (such as diabetes (see paragraphs 2.18-2.19)) and pharmacogenetic tests to stratify the use of medicines and personalise treatments to certain subgroups of the population (see paragraphs 3.42-3.50). According to Professor William McKenna, Professor of Cardiology, University College London, "we have not taken advantage of the knowledge that we have to implement gene testing" even for single-gene disorders" (Q 537). Professor McKenna gave an example:

    "The disease causing genes for … sudden death [disorders], have been identified going back more than 20 years and being able to perform gene testing in the family would have, and does have when it is available to us, a major impact on being able to make an early diagnosis in the family … Recently NICE have recommended in their guidance that there should be gene … testing for the monogenic disorders that cause sudden death in the young, and yet on a clinical level that is not readily available" (Q 531, 537).

4.4.  We are also aware that advances in genomic science will lead to a need for education and training of the healthcare workforce (see Chapter 7). The Wellcome Trust Sanger Institute told us that the efficient use of diagnostics for single-gene disorders would require "further development of clinical diagnostic laboratories and specialised training of clinicians and health care providers" and that developments enabling "predictive testing for susceptibility to late onset common diseases" would lead to a "substantial" demand for "adequate education, training and counselling of healthcare providers, test providers and the public" (p 333). Professor Finbarr Cotter, Professor of Experimental Haematology, Barts and the London School of Medicine, also referred to the need for "educated clinicians who know how to use the tests, what is appropriate to order and how to apply [them]" (Q 125).

4.5.  Professor Donnelly foresaw that the availability of direct to consumer tests (DCTs) would also have implications for the NHS: "people will be arriving at the door of their GPs or their health professionals saying, 'I've had this test and I've got these SNPs; I've learned that my risk of prostate cancer is increased by 30 per cent; what should I do?'" (Q 134). Dr Imran Rafi of the Royal College of General Practitioners thought that it would be "a time-consuming affair" and that there were "going to have to be service models set up to look at what is the most effective way of being able to provide patients with the necessary support that they need" (Q 196).

4.6.  The Minister for Public Health, Ms Primarolo MP, told us that, in her view, her role as Minister was "to make sure that we have the framework and the necessary levers to deliver the strategic objective" and this involved ensuring "that … scientific developments … can be delivered into real patient benefits" (Q 855). We welcome this statement. But the Minister's belief that the real benefit for patients was at least ten years away (Q 855) contrasts with other evidence which we received (see Chapter 2). It also fails to acknowledge both the developments in genomic science that have taken place (particularly those identifying single-gene subtypes of common diseases) and the rate at which new developments are likely to occur in the future. We recommend that the Government should reconsider how they will prepare NHS commissioners and providers for the uptake of genomic medicine in the NHS. We also recommend that the National Institute for Health Research, as part of its remit, regularly monitors developments in genomic medicine and their implications for the NHS now and in the future.


4.7.  In the 2003 Genetics White Paper, the Government set out a plan of action for "taking advantage … of the new genetic knowledge and technologies" and made a commitment to invest £50 million to achieve that aim through activities to strengthen the existing healthcare service, to mainstream genetics into clinical practice and to educate the workforce (see Chapter 3). The Government also sought to ensure that genetics permeated all branches of medicine by supporting new initiatives in genetics-based care in key disease areas, in secondary and primary care and in national screening programmes. The initiatives included several pilot projects for genetic disorders and additional screening for genetic conditions.

4.8.  In addition, the White Paper included a commitment to invest in strengthening existing hubs of NHS expertise. Measures included: earmarking substantial capital investment (over £18 million capital in 2003-06) for a major programme of modernisation of genetics laboratories; expanding the workforce within specialised genetics services; and investing in genetics training and information and communications technology budgets. It also included commitments with regard to developing NHS informatics, start-up funding for building genetics into mainstream practice, training and education of the workforce, and setting out strategies for communication and engagement with the public on the ethical and social issues surrounding genomic medicine.


4.9.  In April 2008, the Government published a review of the 2003 White Paper which set out progress since 2003. It also reported the views of key stakeholders on what has been achieved and the opportunities and challenges they anticipated.

Integration of genetics into mainstream practice

4.10.  The Government has developed a number of models to integrate genetics expertise into mainstream practice. These include:

  • pilots to test new patient pathways designed to give easier access to genetics services (including Teesside Cancer Family History Service and Poole Familial Cancer project);
  • ten service development pilots to bring specialist genetics advice into mainstream NHS services (such as Oxford Ophthalmic Genetics Service); and
  • a project to implement and evaluate cascade testing in families with familial hypercholesterolaemia (London IDEAS knowledge park).

Significant progress has also been made on the screening commitments, including Down's syndrome screening (available to almost all maternity units to women of all ages) and the roll-out of newborn hearing screening and sickle cell and cystic fibrosis screening (now offered to all babies).

4.11.  These pilots demonstrated that non-specialist NHS staff, with appropriate training and support, are able to develop sufficient expertise to provide genetics services within mainstream practice; and, as a result, recommendations have been made within the Department of Health (DoH) for extending such services in the future. Diana Paine of the DoH NHS Genetics Team told us that the evaluation reports from these projects, along with an external evaluation by Nottingham University looking at the operational issues of embedding new technologies and services in the NHS, would be reporting later in the year and that they would be looking at how they could share some of the lessons learnt from the pilots within the NHS (Q 72).

4.12.  In Chapter 3 we have recommended a new White Paper on genomic medicine. We envisage that the proposed White Paper will address the operational changes needed as a result of bringing genetic aspects of treatments for common disorders into mainstream clinical specialities (including changes to commissioning arrangements, processes for providing genetic tests within the NHS and arrangements for NHS laboratories to conduct such tests).

Infrastructure investment

4.13.  Both the 2008 Review and the evidence that we received highlighted a need for continued capital investment to ensure that advances in genomic medicine are brought into clinical practice. The Joint Committee on Medical Genetics (JCMG) suggested that, although the Review confirmed that the Government were "committed to bringing new genetic advances to bear wherever they can be used to benefit patients"—"matching these aspirations with a long-term commitment to infrastructure, funding and support, remains one of the greatest challenges facing the delivery of genomic medicine and technology via the NHS" (p 549). Similarly, the British Society for Human Genetics (BSHG) said that "the Genetics White Paper helped modernise and network specialised genetic services but a new and resourced plan is needed if genomic medicine is to be successfully exploited in the NHS" (p 130). And Dr Elles, Chairman of the BSHG, stressed that "if we are to realise the benefits that have rolled on since then from our knowledge of the human genome sequence then we need to continue that investment stream. Genetics is not a box that has been ticked" (Q 284).

4.14.  Although the 2008 Review outlines a number of significant achievements since 2003, it gives no indication of the Government's plans for future funding of activities or for the next steps in taking forward the lessons learnt either from the pilots or from the Nottingham University review. If the NHS is "to lead the world in taking maximum advantage of … new genetic knowledge and technologies as soon as they become available" (the 2003 Genetics White paper), the Government will have to strengthen their commitment to investing in this area of medicine.

Provision of genetic services in the NHS


4.15.  At present genetics services in the NHS focus on the specialised provision of clinical genetics services to families and individuals at risk of single-gene disorders. In the future, genetic tests to target treatment and prescription for both single-gene disorders and single-gene subtypes of common diseases are likely to become more routine. Dr Frances Flinter, a Member of the Human Genetics Commission (HGC), described how "more and more genetic tests are being requested by physicians outside genetic centres". Clinical geneticists, she said, were few in number and worked in a very specialised area, concentrating on the management of single-gene disorders. In the face of this increase in demand for genetic tests, she suggested that clinical geneticists worked with colleagues in other specialities "to help them develop clear guidelines, or protocols, which identify the subgroup of their patients for whom genetic testing may be indicated" (Q 336).

4.16.  The UK Genetic Testing Network (UKGTN) warned about the implications of this increase in demand: "as the number of appropriate genetic tests increases, the current role of the specialised genetic services in 'gate-keeping' will need to be reconsidered. Some colleagues in other specialties increasingly will want to use genetic testing. Funding will need to take account of test costs within these specialties and there will also be a need for education and information" to allow for the effective commissioning and interpretation of such tests (p 215). The Foundation for Genomics and Population Health ("the PHG Foundation") suggested that "as genomics is increasingly applied in mainstream medicine, new service models are needed in which appropriately trained health professionals from other clinical specialties take responsibility for routine genetic aspects of care, with access to specialist genetics referral where necessary" (p 135).

4.17.  Following a request from the JCMG, the PHG Foundation established an expert group to review the use of genetic testing as a means of non-invasive prenatal diagnosis to inform a strategy for the implementation of diagnostics within clinical services. Their report was published in January 2009.[17] The PHG Foundation and JCMG told us that the technology provided "an exemplar of the development, evaluation and implementation of new genetic technologies into healthcare" (p 155). The report identified a number of significant challenges associated with the need to adapt current prenatal and antenatal healthcare pathways, specifically of screening and testing, to accommodate such developments. Recommendations of the report included "development and implementation of appropriate clinical pathways, laboratory standardisation and infrastructure development, continuing professional oversight, and formal evaluation and long-term monitoring of prenatal testing".[18] The report also highlighted an urgent need for professional education (p 158).

4.18.  Lord Darzi of Denham's final report (see paragraph 3.13 above) outlines plans to develop the NHS and its workforce in the coming years with a move towards more local control and provision of services. Whilst the report includes proposals to encourage innovation in the NHS (including efforts to streamline the pathways for diagnostics), it does not acknowledge the challenges that application of new developments in genomic medicine will present to the NHS. The evidence we received has caused us to question whether these challenges would in fact be better met by centralised, rather than local, assessment of the impacts of genomic medicine on clinical practice, in order to address some of the broader issues affecting healthcare service delivery.

4.19.  Although specialised genetic services are important for the diagnosis and treatment of single-gene disorders, we share the view of UKGTN that their role as "gatekeepers" for the increasing application of genomic medicine within mainstream medicine needs to be reconsidered. We recommend that, on the basis of the monitoring activity of the National Institute for Health Research recommended in paragraph 4.6 above, the Secretary of State for Health should ensure that any necessary NHS operational changes, as a result of a shift in the provision of genomic services to mainstream medicine in the NHS, are implemented in the NHS. In order to facilitate the process the Secretary of State should identify whether the NHS is fit to handle such changes and also what new service models are needed if health professionals from other clinical specialties are to take routine responsibility for genomic aspects of healthcare (with referral to specialist genetics services only where necessary).

Commissioning of genetic services

4.20.  The need to revise the framework for the assessment and evaluation of clinical validity and utility for all types of genetic tests (see Chapter 3) coupled with mainstreaming the use of genetic tests and stratified prescribing in the NHS have implications for the commissioners of genetic tests. Inevitably, they will need to change their commissioning practices to meet changes in arrangements for the assessment, evaluation and provision of specialised diagnostics. The commissioning structure will need to be reviewed as genetics spreads further into the mainstream NHS. We agree with the UKGTN that "it is important that the commissioning and funding of genetic testing and genetic services are explicitly considered when national policies are developed that affect all aspects of health care" (p 211).


4.21.  Genetic services are currently commissioned by specialised commissioning groups (SCGs). The UKGTN was set up to co-ordinate the evaluation of genetic tests for single-gene disorders and to provide advice to commissioners about such tests with the objective of promoting delivery of a consistent service. There is a consensus that the current system for single-gene disorders and the service that UKGTN provides in assessing the tests work well (although, we note that the UKGTN is not responsible for monitoring the uptake or use of genetic tests, or the extent to which funding is available for their use in the NHS.)


4.22.  Genetic tests that are used to quantify risks of common disorders, to treat single-gene subtypes of common diseases, and pharmacogenetic and other tests used to stratify therapeutics are not included in the same commissioning category as single-gene disorder tests. They are outside the SCGs' remit. Dr Mark Bale, Deputy Director of Scientific Development and Bioethics at the DoH, made reference to this gap in the system: "we have acknowledged in the review [of the White Paper] recently that there is an issue around how to ensure that commissioners and commissioning can cater for the new tests, which may have different approaches from the way you have managed certain sub-sets of the population" (Q 64).

4.23.  We recommend that the Department of Health should conduct a review with the aim of establishing appropriate commissioning structures for pharmacogenetic tests, tests for management of genetically complex diseases and tests for diagnosing single-gene subtypes of common diseases, as the use of such tests spreads further into the mainstream NHS.

Commissioning across the NHS

4.24.  A second commissioning issue which has been drawn to our attention is that it appears that genetic services are not provided consistently across the NHS—as regards both tests for single-gene disorders and for single-gene subtypes of common diseases. We are particularly concerned about the latter because they are poorly represented at present and a positive diagnosis has important implications for family assessment and individual treatment.

4.25.  Jacqui Westwood, Director of Specialised Services for South East London, Bexley Primary Care Trust (PCT), told us that "at the moment there is no proper understanding of the way that genetic services are commissioned nationally. They are all dealt with differently in the different areas and there is no structure to that and therefore the tariffs are inconsistent because everybody is doing it differently" (Q 401). Dr Crolla of the JCMG noted the "very patchy uptake by PCTs" of genetic tests and highlighted a number of reasons for this, including the low priority given to such tests by Health Service Managers compared to other interventions. Dr Crolla suggested that PCTs were at the wrong level to commission genetic services because of the complexities of evaluating the benefit of genetic tests, and also because of the "enormous pressure" that commissioners were under to assess other interventions (Q 208).

4.26.  For this reason, the JCMG recommended that "this specialist commissioning should go back to a national level so that when agreed nationally there should be provision for the rolling out of these tests" (Q 208). Dr Crolla suggested that "this would be the ideal" and likened the present system to "a postcode lottery". He went on: "I think it needs to be ring-fenced and national" (Q 209).

4.27.  Professor O'Rahilly gave an example of inequity in the current system:

    "Jenny Taylor ... was involved in Oxford in the development of a service whereby people who died young and suddenly of sudden cardiac death, of which there are a number of genetic causes, would have their post-mortem DNA analysed and family members would be screened and then those individuals who carried the risk factors were given implantable defibrillators, et cetera, to prevent sudden cardiac death. That was accepted pretty much everywhere in the UK apart from the Oxford region and it could not be implemented there because of financial pressures on the PCT, so there you had an example of the very place that was developing and leading internationally in the area of development was unable to find funding. There are numerous such anomalies within the Health Service" (Q 209).

Professor McKenna supported this point:

    "It is very much … down to the postcode. If you happen to live in one area you can access gene testing, but in general it is a real struggle to access mutation analysis for your patients. We have about 4,000 patients a year with inherited forms of sudden death and heart failure and we do not have routine gene testing, we have to do this through research grants and international collaborations" (Q 537).

4.28.  We recommend that the Department of Health should conduct a review of current genetic test service provision within the NHS both for single-gene disorders and for single-gene subtypes of common disorders. This should aim to eliminate what are serious inconsistencies in the provision of genetic services across the NHS.

Uptake of pharmacogenetic tests in the NHS

4.29.  There are differences not only in the provision of pharmacogenetic tests across the NHS, but also in the way in which they are applied by different practitioners. There are two main reasons for this: first, a lack of clarity of appropriate funding streams (or tariffs) for the use of such tests as part of treatments within non-genetic specialties; and, secondly, inconsistencies in the actual prescribing of such tests by healthcare workers during patient consultations.


4.30.  We have already noted that an increasing number of genetic tests are now ordered by specialties other than genetics. This can cause problems as there are no specific funding mechanisms within the non-genetic specialty for the use of such tests as part of a patient's treatment. For example, Professor Peter Farndon, Director of the UKGTN, told us that:

    "The tension we have got is if an ophthalmologist wants to send a test in, they have no funding stream in ophthalmology to pay for it unless they pay for it out of their budget. The funding stream for the majority of these tests is through the genetics services; that is another policy tension. If we try to roll out equity of genetic testing into other specialties, we have to come to some re-think about how that might occur" (Q 396).

4.31.  As new tests develop, national tariffs or local prices will need to adjust for these costs. We are aware that the UKGTN is working to develop tariffs for genetic tests that are separate from clinical service provision (UKGTN). In December 2008, the report of the second phase of the Independent Review of NHS Pathology Services in England, chaired by Lord Carter of Coles (the second Carter Report), was published. The report noted that the DoH was considering the feasibility of a tariff for pathology and recommended that further work should be undertaken to develop tariff commissioning guidance for community-based and specialist (for example, genetics) pathology.[19]

4.32.  We recommend that the Department of Health should develop a national set of standards and tariff guidance for the commissioning of genetic tests, taking into account the recommendations from the second phase of the Carter Review of NHS Pathology Services that there should be tariff guidance for community-based and specialist pathology, particularly relating to DNA and RNA-based genetic tests.


4.33.  Professor Pirmohamed gave an example of inconsistent use of pharmacogenetic tests within the NHS by practitioners during the patient consultation process which involved genetic testing to assess whether patients might be susceptible to certain risks associated with the use of the drug azathioprine. "If you look at the different physicians who actually use this drug in this country, you find that there is a great deal of variability in terms of uptake" (Q 726). An extension of the current "red flag system" could alert healthcare workers to the need to use pharmacogenetic tests as part of the prescribing process where appropriate.[20] Professor Pirmohamed commented that, "as the new NHS IT system develops, then it may be possible to build [testing] into the prescribing process" (Q 728). Dr Hilary Harris, a GP and former member of the HGC, supported this:

    "It is perfectly possible to flag up prescribing so that some of the warnings will come up, as they do now, or the instruction to have a test allied to a particular pharmaceutical preparation" (Q 834).

4.34.  We recommend that the Department of Health should commission the National Institute for Health and Clinical Excellence to issue guidance on the use of genetic tests by non-genetic specialties; and that the NHS should consider the expansion of the "red flag system" to alert healthcare workers to the need to conduct a specific test, in some cases a pharmacogenetic test, before deciding on treatment or prescription.

Provision of laboratory services

4.35.  It appears that a further cause of inconsistent provision of genetic services across the NHS has been the control of laboratory services at the level of the NHS Trust. This is partly due to the rapid advances in the field and developments in technology—many laboratories now need to replace equipment and replacement has varied across NHS Trusts—and partly because of variations in the availability of tests across laboratories. This is compounded by challenges in recruitment and retention of highly trained staff to run the service.


4.36.  As a result of the speed of technological developments in genomic sequencing and informatics, according to the BSHG, "[laboratory] services will be faced with a need to re-capitalise in the next three to five years". They advised that "the Government should consider recurrent mechanisms to ensure that the NHS maintains cost effective access to appropriate technology platforms" (p 130). Oxford Nanopore made a similar point:

    "At the time of the 2003 Genetics White Paper, the funding structure for new technology assumed that it should be considered for replacement after five years. The existing technology pipeline indicates that a two-year cycle would be more appropriate for one technology to be replaced by the subsequent generation. Planning of the infrastructure and funding of genomic medicine would need to take this into account" (p 345).

4.37.  The provision of laboratory services varies across the UK because of commissioning arrangements and also because of differences in the investment decisions of PCTs. Professor Furness told us that:

    "it was anticipated that when the [Genetics] White Paper introduced new developments and new equipment that commissioners would have arrangements to replace that equipment in due course. My understanding is that in some areas a lifetime of five years has been agreed in the budgets over which such equipment will be written off, and that is probably too long, but there are certainly other areas where commissioners have made no provision whatsoever for writing off and replacing the equipment, so we are getting differences of funding in different parts of the country which I think is regrettable" (Q 229).

4.38.  Other witnesses, including Sir Alex Markham, Professor Sir John Bell, Professor Martin Bobrow and Professor Furness, suggested that the combination of molecular pathology (that is, DNA or RNA-based tests, in the context of mainstream specialities) and clinical genetics services should be combined within a single clinical service structure. This would help to address these variations and to ensure a more coherent and streamlined approach to genetic testing within the NHS. Professor Sir John Bell suggested that:

    "Pathology and laboratory services in NHS hospitals are severely fragmented and there is a serious risk that introduction of a range of new technology platforms will lead to further duplication in multiple different laboratory settings. Many of the technologies necessary for moving pathology into a new era are the same as those that would be used in clinical genetics laboratories and will also have applicability to both microbiology and haematology. There is an urgent need therefore to rationalise the management of these, either at an NHS Trust level or through large regional laboratories. These tools need careful technical support, bioinformatics and quality control and it seems unlikely that these can be developed in multiple sites within a hospital without undue costs. I think the coalescence of these platforms within a single clinical service structure is imperative to ensure that there is a coherent approach to these methodologies within the NHS. We have achieved this in Oxford using the Clinical Research agenda to drive integration of laboratory services. It should be replicated elsewhere" (p 226).

4.39.  Professor Sir John Bell, citing developments in Oxford, referred to Figure 5 below.

Laboratory Structures

Current laboratory structure (a) in which pathology services are funded and delivered separately; and suggested new arrangements (b) with the coalescence of molecular diagnostics into a centralised 'hub' with more locally positioned 'spokes' of specialised services

4.40.  The view expressed by Professor Sir John Bell was supported by Professor Martin Bobrow, former Head of the Department of Medical Genetics, Cambridge University, who stressed the need to "consider a much greater degree of integration of the laboratory disciplines and [to] break down this now century old division into haematology and histopathology and so forth and start bringing the processes together" (Q 285).


4.41.  Reconsideration of pathology services is already underway. The second Carter Report, endorsing a Healthcare Commission report on pathology services published in 2007, argued that there was

    "… a strong case for consolidation of pathology to improve quality, patient safety and efficiency. Driving up standards, quality and patient care at the same time as reducing costs by between £250 and £500 million a year for reinvestment in the service which is necessary to deliver and assure service quality and to support the rapid adoption of innovative new technology and new approaches to the delivery of pathology services".[21]

4.42.  We envisage that for genomic medicine the "hub and spoke" system would mean that rapid specialised services would remain in local laboratories and highly technical DNA and RNA tests with expensive equipment would be in a hub. Professor Furness, for example, said that:

    "There are aspects of providing molecular biology systems that are very expensive and nowadays rely on very large expensive machines where you only have [to] look at the economics and it is absolutely obvious that it is more efficiently done with a small number of those machines analysing samples from all over the country … However, on the other hand, the people who actually interact with patients … have to be where the patients are. To that extent you are potentially talking about a hub and spoke arrangements to make it most efficient. How many hubs you have around the country is a difficult question and will probably depend on the tests that you are talking about" (Q 219).

4.43.  Although Professor Furness anticipated savings from such a reorganisation, he thought that funding would be a problem:

    "The barrier to [the hub and spoke arrangement] is, first of all, the need for capital investment to do it and, secondly, the current structure of NHS funding. We have 'silo' funding where this amount of money goes to this service to keep doing what it has been doing year in, year out, irrespective largely of new demands and new developments, and it is very difficult to get agreement to change that pattern. The expense of that sort of reorganisation …, I personally suspect it would not be enormous and I think the savings could be greater than the expense if it is done logically; but we have this hump, this barrier of organisational inertia to get over to make it happen" (Q 219).

4.44.  The 2008 second Carter Report followed this model and recommended that specialist services should be consolidated through referral to specialist testing centres. It also recommended that pathology networks should be developed with a single, integrated management structure, with only urgent testing carried out on-site. It suggested that Strategic Health Authorities (SHAs) should draw up implementation plans for consolidating services in their regions, requiring the PCTs to take the lead with local providers in drawing up cost-effective plans for implementation.[22]

4.45.  The Minister for Public Health, Ms Primarolo MP, said that the Government was working with some SHAs to explore how the second phase of the Carter Review could be taken forward (Q 875)—although she also said that it was "for the NHS to make the decisions on the spend and their equipment in the light of circumstances" (Q 871). Following this work, the DoH intend to publish an impact assessment of possible changes to the provision of laboratory services in the early summer 2009.

4.46.  The first Carter Report, Report of the Review of NHS Pathology Services in England, published in 2006, made a range of recommendations about pilot projects to evaluate how to integrate pathology services. Two years and a second report later, a further recommendation about pilot projects was made and the impact of potential change to the service is still being assessed. The pace of change towards consolidation—a key recommendation of the first and second phase of the Carter Review—has been disappointingly slow. Consolidation of pathology services is essential to the cost-effective spread of genomic medicine across the NHS.

4.47.  We recommend that the Government centralise laboratory services for molecular pathology, including genetic testing, in line with the recommendations of the second phase of the Carter Review of NHS Pathology Services. The aim should be to organise effective laboratory services for molecular pathology and genetics by bringing together the whole range of DNA and RNA-based tests for pathology and medical specialties to ensure that services are cost effective. This would have the potential to free up funds, for example, for the highly specialised technical equipment that is needed.

17   Wright, C., Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, Report of the UK expert working group, PHG Foundation, 2009. Back

18   Ibid, p 53. Back

19   The second Carter Report, p 24. Back

20   The red flag system is an electronic prescribing system that alerts the practitioner to the need to take a certain treatment option during a consultation process by flashing up a red flag on the practitioner's computer screen. Back

21   The second Carter Report, pp 5-7. Back

22   Ibid, p 23. Back

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