Genomic Medicine - Science and Technology Committee Contents



7.1.  As more genetic tests, either for single-gene disorders or for single-gene subtypes of common diseases, are requested by physicians in mainstream specialties, so the need for education and training in genetics, genomics and information technology across a broad cross-section of the healthcare workforce will increase.

7.2.  Predictive tests for single-gene disorders are carried out principally within Regional Genetics Centres, using the services of clinical geneticists and genetic counsellors. Clinical expertise in this specialty is well-developed and appears to function efficiently. As a result, we do not take the view that a fundamental change in the current practice of clinical genetics is called for at present. But genetic testing outside of the Regional Genetic Centres and outside the specialty of clinical genetics is increasing, and in this area we have concluded that action does need to be taken to meet the educational needs of the wider healthcare workforce. Our recommendation that pathology services should be consolidated will also have training implications (see paragraph 4.47 above).

Genetic testing in common diseases—educational and training needs across the NHS

7.3.  The Minister for Public Health, Ms Primarolo MP, recognised the significant educational and training needs of non-genetic specialties within the mainstream of the NHS: "developing the genetic competence of both new and existing NHS staff is a huge undertaking … This is a task that is going to take some time" (Q 886). Dr Sir Mark Walport made a related point:

    "The clinical genetics community up to now has largely been trained in the universe of monogenic disorders, single-gene abnormalities, but actually we are moving into a whole new area … [The trainees] are not all going to be clinical geneticists … I think it is also about training people who are gastroenterologists with a genetic interest or training respiratory physicians who have an interest in genetics" (QQ 139-41).

7.4.  With regard to the increasing availability of, and demand for, tests for single-gene subtypes of common disorders, the Foundation for Genomics and Population Health ("the PHG Foundation") told us that

    "the current paradigm of joint clinics involving clinical genetics departments and other specialist departments (cardiology, oncology, ophthalmology etc) is likely to become untenable as the number of available tests for single-gene diseases increases and their cost drops. This means that patients will largely be looked after in the relevant specialty by health professionals knowledgeable in aspects of genetics relevant to that specialty … This model for integration of genetics into mainstream services requires a substantial investment in education and training" (pp 137-8).

The PHG Foundation also said:

    "As genomic tests and information are incorporated into strategies for the routine diagnosis and management of common disease and the estimation of disease risk, many—if not most—health professionals will need to understand how to interpret test results and risk information and to be able to explain the implications to patients. They will also need to be able to make informed judgements about which tests are appropriate for different patients and clinical situations. General practitioners are likely to find themselves in the 'front line' of these developments and will need appropriate training" (p 138).

7.5.  The Human Genetics Commission (HGC) commented that "the implications of genetic test results that are intended to identify susceptibility to disease are, in general, poorly understood, and more information and education at all levels, and in particular an increase in capacity of genetic counselling services, are required … Ensuring that this information is provided to the patient (and, if appropriate, their family) in a manner that is easily understood and will be remembered is a complex process, requiring specific skills on the part of the clinician involved" (p 159).

7.6.  Furthermore, as we have already noted (see Chapter 6), we anticipate that the availability of direct to consumer tests (DCTs) is likely to lead to consumers putting increasing demands on general practitioners to advise on the interpretation of results. According to the Wellcome Trust, "there will … be an increasing number of patients who will seek advice from physicians based on results of DCTs. There is, therefore, an urgent need to ensure that professionals across the health service are educated on genetics and the ethical and social issues it raises" (p 77).

Medical students

7.7.  Responsibility for setting standards for the knowledge, skills, attitudes and bahaviour of UK medical students rests with the General Medical Council (GMC). The GMC publication Tomorrow's Doctors sets out the standards for undergraduate medical education in the UK. It states that doctors "must … have an understanding of the genetic, social and environmental factors that determine disease and the response to treatment" and must understand "the effective and safe use of medicines as a basis for prescribing including … genetic indicators" (p 517). The current edition of Tomorrow's Doctors was published in 2003. It is now under review. In 2003, use of genomic tools in diagnosis and management of common diseases was at a very early stage of development. It is not surprising therefore that these subjects are not mentioned in the generic standards for undergraduate medical education.

7.8.  We believe that understanding the use of genomic tools for diagnosis, stratification of patients and choice of treatment in common diseases should form an important part of the undergraduate medical curriculum and urge the General Medical Council to take this aspect of disease management into account in their current review of Tomorrow's Doctors.

Doctors in primary and secondary care

7.9.  As we have already noted, there is a range of different genetic tests in use in clinical practice. They include predictive tests for single-gene disorders and single-gene subtypes of common diseases, genetic tests for guidance in the management of established diseases and pharmacogenetic tests to assist drug prescribing. There are also predictive tests for common diseases, which are mostly sold as DCTs, and are as yet of unproven predictive value.

7.10.  In the NHS, 70 to 80 per cent of genetic tests are ordered directly by physicians, rather than through clinical geneticists (Q 401). If they are to be ordered and interpreted appropriately, the medical workforce must be able to understand their benefit and use. Professor McKenna referred to the challenges in interpreting and delivering the results to general practitioners and specialists other than clinical geneticists. To do this we "are going to have to invest in training and teaching of general practitioners in relation to genetic risk in general" (Q 548).

7.11.  The Royal College of General Practitioners told us that they "anticipate that genomic medicine will have a major impact on healthcare … General practice must accept this and [that] … the potential interventions … may differ depending on disease state. As with all developments in medical technology, training will need to follow the emerging evidence base, and GPs will have to feel confident to give patients the relevant advice" (p 113). Dr Flinter noted that, in terms of the extent of the requirement to educate other professionals,

    "we are aware that there is a very great need and I suspect at the moment that we are not quite meeting it in that some of our colleagues are beginning to use genetic tests, perhaps not always appropriately, perhaps sometimes requesting a very great long list of tests all at once when it might be more appropriate to go through a staged process and, sometimes asking for a genetic test when actually a simple x-ray might give them the same answer much more cheaply and much more quickly." (Q 336).

7.12.  In the 2003 Genetics White Paper, the Government made a commitment to provide funding to improve training and education in genetics. We were told by Dr Rafi that in primary care ten GPs were funded nationally "to promote education and raise awareness of the value of primary care genetics"; he added, "there is a realisation now that GPs and GP trainers who are involved in training GPs locally need to gain genetic knowledge" (Q 194). Research had shown, however, that confidence was low amongst existing GPs in their overall expertise in genetics and their ability to understand enough to be able to order, interpret and counsel on genetic tests appropriately (Q 195). According to the ESRC Genomics Policy and Research Forum, "there will … be a need not only to increase provision of specialist training, but also to integrate appropriate training in providing genetic health care into the core medical and nursing curriculum" (p 12).

7.13.  Within secondary care, genetic testing for diagnosis and management of established disease is mostly carried out in pathology laboratories. The Royal College of Pathologists said that both clinical scientists and medically-trained genetic pathologists were needed. The College had therefore explored how genomic and molecular pathology might be brought into the curricula for trainee pathologists and clinical scientists, with a core level of understanding for all pathologists and more advanced training and curricula for specialists. Providing this training on such a large scale had, however, proved difficult: "In the UK a mere five individuals are qualified in the application of genomics to 'acquired' disease … Only one of these is in NHS employment as a genetic pathologist (in Cardiff) … There are nominally just two Genetic Pathology Specialist Registrar posts in the UK" (p 110). We were told that a number of junior doctors were interested in training in the specialty in 2007 (p 252), but in the absence of any consultant posts to absorb trainees the Royal College of Pathologists had recently had to conclude that training for the specialty should be suspended. This, the College suggested, was "surely a bizarre development, driven by the reality of short-term economics rather than any logical assessment of future need" (p 110). We have recommended the centralisation of laboratory services. We believe that centralisation could enable such expertise to be consolidated within a centralised "hub" of services for the NHS.

7.14.  The evidence demonstrates a clear need for training in genomic medicine for doctors in primary and secondary care. As to the appropriate level of training and whether it should be part of the core curricula or form part of specialist training, Paul Streets, Chief Executive of the Postgraduate Medical Education and Training Board (PMETB), did not favour the former. He said that "from our work to-date, we are not receiving a lot of evidence that suggests that genomic medicine is an area of deficit in the current curricula" (Q 817). He continued: "the question we have to look at is the balance between core curricula and specialist content in an area, and … when there is huge pressure on training doctors, where do we draw the line? … For us to consider genomic medicine as being a core content of any curricula we need a very strong evidence base because something would have to give" (Q 834).

7.15.  We need to ensure that genomic medicine education and training for those in primary and secondary care keep pace with the developments in the field. Given that genomic medicine is predicted to have an impact across primary and secondary care, we believe that basic training in genomic medicine should form part of the undergraduate and postgraduate curricula.

7.16.  We recommend that the Royal Colleges of Pathologists, Physicians and General Practitioners, after consultation with other relevant bodies, should develop a joint national strategy for undergraduate and postgraduate education and training in genomic medicine, with a clear timetable for implementation.

7.17.  We recommend that the General Medical Council should introduce training in genomic medicine as a core competency in the Certificate of Completion of Training of all junior doctors training in the medical and pathological specialties.

7.18.  We recommend that general practitioners should be trained to be able to provide general advice to patients on the implications of the results of predictive tests for common diseases. Planning how this might be done should be part of the review by the Royal Colleges recommended in paragraph 7.16 above.

7.19.  We recommend that the Postgraduate Deans of Medicine and Medical Education for England, together with the relevant Royal Colleges and the Postgraduate Medical Education and Training Board, reinstate the currently suspended training programme in genetic pathology with a view to reintroducing a viable programme for the intended small number of pathologists (perhaps up to five at any one time) training in this specialty. This training may need to be overseen by both pathologists and clinical geneticists and could lead to the possibility of dual accreditation in genetics and pathology.

7.20.  We also recommend that the Department of Health should work with the Postgraduate Deans of Medicine and the relevant Royal Colleges to reinstate consultant posts in genetic pathology capable of absorbing a sustainable number of registrar training posts.

7.21.  Genetics training is needed not only for those who are in training posts but also for those currently in established consultant or general practice posts or in other non-training posts. The ESRC Genomics Network, CESAGEN, referred to a need for adequate resources for continuing professional development (CPD) for existing practitioners (CESAGEN) (p 31). Mr Streets of the PMETB raised the issue of "the extent to which we might want to credential doctors in areas outside of the specialty in which they trained". He thought that "clinical genetics could well be an area in which we would be looking to credential doctors who may not have done genetics within their training because they may have trained 20 or 30 years ago" (Q 821). Dr Harris also supported genetics as part of CPD: "It seems to me that it would be very good if we could have a [postgraduate education] curriculum that included genetics, or at least have some nucleus of a curriculum that had genetics in it" (Q 823).

7.22.  We recommend that genomic medicine is included as a clinical competency within continuing professional development (CPD) for clinicians in primary and secondary care, and that this is recognised by the Royal Colleges which monitor CPD.

Genetics education for nurses

7.23.  Nurses play an important role in the delivery of genetic services in the NHS, both in nursing practice and as genetic counsellors within genetics centres. Speaking about the current provision of genetic education for nurses, Professor Maggie Kirk, Leader of the Genomics Policy Unit at the National Genetics Education and Development Centre (NGEDC), described it as "patchy" (p 412). As a result, she said, the NGEDC, with Skills for Health,[39] had developed "an education framework that sets out learning outcomes at pre-qualifying levels" which also included a requirement that all nurses at the point of registration "should be able to demonstrate a knowledge and understanding of the utility and limitations of genetic testing and genetic information" (Q 817). (The role of the NGEDC is considered in detail in paragraphs 7.34-7.37 below.) But although the education framework was leading to "a gradual but slow recognition of the relevance of genetics to nursing" that was "being translated into nursing faculty curricula", the Nursing Team within the NGEDC stressed that "until the NMC [Nursing and Midwifery Council] or other body are able to set detailed standards across the curriculum, some areas that are critical to nursing practice will be sidelined in some HEIs [Higher Education Institutes]" (p 412). The NGEDC suggested that this was due to "a deficit in the current system of allowing pre-registration nursing curricula content and outcomes to be determined in partnership between those delivering, purchasing, providing learning in practice and potential employers" (p 411).

7.24.  We therefore urge the Nursing and Midwifery Council to set detailed standards across the curriculum on genetics and genomics for nurses, both for pre-registration nursing education and as part of post-registration education and practice.

Provision of genetic counsellors


7.25.  Genetic counsellors advise and counsel individuals, and their families, affected by single-gene disorders. They work primarily through Regional Genetic Centres. They are in increasing demand. Dr Crolla of the Joint Committee on Medical Genetics (JCMG) said demand was "growing at the rate of the number of tests and scenarios which require interpretation of diagnostic tests" (Q 206). The JCMG also commented that more genetic counsellors needed to be trained because it was "difficult to fill posts" and demand was "increasing year on year" (p 551). The Academy of Medical Sciences (AMS) made a similar point and saw a need for "significant investment … in training more specialist genetic counsellors" (p 468).

7.26.  The 2003 Genetics White Paper included a commitment to increase training capacity for genetic counselling and the 2008 Review of the White Paper recorded that training for the first tranche of 50 new genetic counsellors had been completed with a second tranche on the way. None the less, Dr Harris remained of the view that "there are simply not enough genetic counsellors" (Q 838). CESAGEN made the same point: "At present the only advanced training for genetic counsellors in the UK is provided through Masters courses at Manchester and Cardiff Universities … [which] currently produce c. 25 graduates per annum … It is clear that such small numbers are insufficient to meet the needs of the public" (p 31).


7.27.  To date, the role of genetic counsellors has not been well defined outside the specialty of clinical genetics. But as genetic testing within mainstream specialties increases, more genetic counsellors will be needed in the general medical setting to provide support to the mainstream specialties—in the same way that they are currently providing support within the specialty of clinical genetics with regard to single-gene disorders. This point was made by the HGC:

    "As the relevance of genetic information moves beyond specialist genetic services … substantial efforts will need to be made to incorporate this meaningfully into practice, on the one hand, and to absorb a new area of demand for health advice on the other … A significant amount of this requirement is likely to fall on genetic counsellors to support families in which new disease-predisposing genetic variations are identified and for which tests are developed, and we recognise the need to support additional posts to meet this demand" (p 164).

7.28.  The JCMG supported this view with specific reference to single-gene causes of breast cancer: "in Poland … they have screened their population for 3 BRCA1 mutations and have 3930 carriers—[this will require] a lot of counselling ... If similar screening for genetic risks occurs in the UK we [will] need a lot of trained counsellors to cope" (p 551).

7.29.  The number of predictive and diagnostic genetic tests for single-gene disorders and for single-gene subtypes of common diseases is increasing (see paragraphs 2.18-2.19), and these tests are, in turn, increasingly being requested by physicians outside the Regional Genetics Centres. This will undoubtedly have an impact on the NHS. We believe that genetic counsellors would be well placed to meet the challenges created by these developments and, after appropriate training, would be able to apply their skills effectively in discussing with patients and their families the implications of positive genetic tests for single-gene subtypes of common diseases.

7.30.  Dr Patch, a nurse and genetic counsellor herself, raised another important point about the provision of genetic counsellors when she told us that "there is no statutory professional regulation for genetic counsellors" (Q 336). We note, however, that the voluntary Association of Genetic Nurses and Counsellors plan to submit an application for genetic counsellors to be registered with the Health Professional Council (Q 336).

7.31.  We recommend that the Department of Health should review provision of genetic counselling with regard to single-gene disorders, single-gene subtypes of common diseases and common diseases.

7.32.  On the basis of the findings of the review, we recommend further that the Department should take steps to ensure that adequate provision for genetic counselling is made available within the Regional Genetic Centres and also outside the Centres. The review should take account of the increasing need to support non-specialist physicians in giving accurate and informed advice to patients, and their families, following diagnosis of a single-gene subtype of a common disease.

7.33.  The review should also consider the content and scope of training courses for genetic counsellors to ensure that they are able to provide advice on single-gene subtypes of common diseases as well as single-gene disorders; and give consideration to statutory professional regulation of genetic counsellors.

The role of the National Genetic Education and Development Centre

7.34.  The National Genetics Education and Development Centre (NGEDC) was set up in Birmingham in 2004, following the 2003 Genetics White Paper, to address the educational needs of health professionals who are not genetic specialists, with the aim of incorporating genetics into core curricula and CPD. The work of the NGEDC includes a series of programmes: to develop resources to support the knowledge base for learners and trainers; to enable workforce competencies to be integrated into job roles and assessment; and to train and support educators and to develop training materials.

7.35.  We commend the NGEDC for developing valuable educational resources to integrate genetics into training for non-specialists. But, at present, those resources appear to relate principally to single-gene disorders. We were told by NGEDC's Professor Kirk about several case studies on genetically complex diseases and we acknowledge Professor Kirk's wish to conduct further work on these diseases (QQ 832 and 843); but we question whether sufficient NGEDC resources can be applied to work on genetically complex diseases or to work on the management of single-gene subtypes of common diseases. We are not convinced that the existing mechanisms within the NGEDC are capable of delivering education and training on the scale that is required.

7.36.  The NGEDC contract was for five years and the 2008 Review of the 2003 White Paper confirmed funding until August 2009. We were pleased to be told by the Minister for Public Health, Ms Primarolo MP, that the DoH were in discussions with the NGEDC about a new contract that would take "key initiatives through to 2014" (Q 886). However we are concerned that the NGEDC contract is currently being renewed without issues relating to common complex diseases being addressed. Generalising the structures put in place for training relevant to single-gene disorders will not be appropriate for educating the general medical and nursing workforce about the use of genetic tests in the context of common diseases.

7.37.  We recommend that the Department of Health reviews the National Genetics Education and Development Centre's (NGEDC) role, to establish whether it has the appropriate structure and mechanisms in place to provide national leadership in training the general medical and nursing workforce in the practice of genomic medicine and the use of genetic testing in the context of common diseases. The aims of the review should be to establish a national programme of training in genomic medicine for the non-genetic medical and nursing specialties, either under the auspices of the NGEDC or another body.

Laboratory scientists, modernising scientific careers, workforce planning and re-training

7.38.  In November 2008, the DoH published a consultation paper entitled The Future of the Healthcare Science Workforce: Modernising Scientific Careers ("the workforce review"). It acknowledged that the development and implementation of new diagnostics would require transformation of healthcare science career pathways, supported by new education and training programmes, and the development of new treatment service models. Genetics and molecular science would form part of these new training programmes. Under the workforce review, it was proposed that, during pre-registration (first three to four years), a modular inter-disciplinary approach to training should be introduced.

7.39.  The JCMG warned that "the impact of this model needs careful scrutiny in the context of the need for greater flexibility in recruitment of scientific staff with appropriate genomic and bioinformatic backgrounds" (p 550). Dr Elles similarly gave a warning: "one problem which we perceive is that the current reform of training for healthcare scientists is to an extent making a straitjacket which I hope will not preclude us from being able to employ within the NHS bioinformatic specialists and turn them to the task of using their skills for healthcare. This is of real concern amongst BSHG [British Society for Human Genetics] members" (Q 264).

7.40.  Furthermore, scientists and technicians who are already in post may not have the necessary skills to work on new genetic testing technologies. Professor Sir John Bell told us: "we probably have 1,000, maybe 2,000, cytogeneticists. We have a variety of cytopathologists. There may be 3,000 or 4,000 people in the NHS who are doing jobs today that, within a very few years, may be completely redundant. How do you take those people and retrain that workforce?" (Q 467).

7.41.  Dr Crolla suggested that cytogenetics had been transformed by the introduction of array technologies. But there was now a need to train the current workforce in new skills to match the new technologies:

    "We are right at the beginning of the roll-out phase of that technology, and so I think where the investment needs to go is really in the restructuring of the workforce and the retraining of the workforce because people will no longer be looking down microscopes primarily. We must not get rid of that skill, we must hold on to that skill, but they will not be looking down microscopes, they will be sitting in front of PCs doing bioinformatic interpretation and generating other tests as a result of the results that they are getting. That is where I think the investment very much needs to go at this particular point in time" (Q 228).

7.42.  The 2006 Carter Review of the NHS Pathology Services in England (see Chapter 5) noted that the age profile of the current pathology workforce meant that it would shrink and be unable to sustain services in their present form. The report also suggested that the workforce was not deployed to best effect, and that the gap between the functions and skills of pathology staff was widening due to increasing automation. We believe that our recommendation to centralise laboratory services for molecular pathology (see paragraph 4.47 above) would help to ensure that the most effective use is made of the pathology expertise within the NHS.

7.43.  We recommend that, as part of the current review of the healthcare scientific workforce, the Department of Health should consider how members of the current healthcare science workforce can be trained to enable them to use the new genomic technologies and, bearing in mind the recommendation at paragraph 7.47 below, how to develop bioinformatics skills in particular.

Workforce planning and delivery

7.44.  Continuing advances in the application of genomic medicine will impact on healthcare services delivery at all levels, with clear implications for workforce planning. We have considered whether the current workforce in the NHS will be able to adapt to the integration of genomic medicine into mainstream specialties.

7.45.  Dr Zimmern expressed some doubts:

    "I have for some years been concerned by the fact that … nobody is responsible for the manpower planning of genetic epidemiologists, bioinformaticians, biostatisticians, health technology assessment experts and health economists who have an understanding of genomics … I suggest we do need some idea of how many we need five or ten years down the line, because … without these people … who understand genomics we are not going to get that translational shift" (Q 264).

We share Dr Zimmern's particular concern about recruiting bioinformaticians (see Chapter 5).

7.46.  As for the most effective way to integrate genomic testing into mainstream specialties, Dr Zimmern suggested that "we might have in every single strategic health authority one public health physician who is skilled in [genomics]" (Q 271). The Royal College of General Practitioners also recognised the need for assistance for primary and secondary healthcare workers:

    "In order to disseminate expertise on this rapidly developing technology, it may be necessary to provide community based genetics advisory services. Involving close collaboration between regional genetics departments and primary care, they will act as a centre where local primary care physicians can access help and information when faced with clinical problems or issues associated with the ethical, legal and social aspects of genome based medicine" (p 113).

7.47.  The Minister for Public Health, Ms Primarolo MP, referred us to the DoH report entitled A High Quality Workforce: NHS Next Stage review, published in June 2008, which sets out the Government's commitments to planning, education and training for primary and secondary healthcare workers. Following the A High Quality Workforce review, the DoH has made a commitment to set up a Centre of Excellence to help organisations within the NHS to respond quickly to changing service requirements and to encourage effective workforce planning. The Centre will be responsible for horizon-scanning and gathering intelligence for workforce planning and will act as an arena for new ideas, gathering and exploiting new information and best practice drawn from national and international experience. We support the Department of Health's commitment to establish a Centre of Excellence for national planning and commissioning of workforce supply and demand. We recommend that the Centre is the appropriate body to provide advice to the NHS on what measures can be taken to address the pressing need to recruit bioinformatic expertise into the service.

7.48.  We have some concern that the A High Quality Workforce review does not identify changes in workforce planning that will be needed in response to the wider use of genetic testing within the NHS or to the development of genomic medicine. We recommend therefore that the Centre should be asked also to evaluate the workforce planning implications of an expansion of genetic and genomic test services into mainstream specialties.

39   "Skills for Health" is the Sector Skills Council for the UK health sector. Back

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