CHAPTER 7: TRAINING, EDUCATION AND
WORKFORCE PLANNING
Introduction
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
GENETIC COUNSELLING AND SINGLE-GENE DISORDERS
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).
GENETIC COUNSELLING AND SINGLE-GENE SUBTYPES OF GENETICALLY
COMPLEX DISEASES
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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