Memorandum by the Institute of Medical
The Institute of Medical Genetics was founded
in 1987 and comprises The Department of Medical Genetics, Cardiff
University and The All-Wales Medical Genetics Service.
Its name was chosen to reflect the wider implications of genetics
in medicine, rather than just clinical genetics.
This document provides information relating
more to developments and opportunities in genomic medicine in
Wales and seeks to compliment rather than reiterate evidence provided
by relevant UK professional bodies including the British Society
for Human Genetics (BSHG), the Joint Committee on Medical Genetics
(JCMG) and Royal Colleges, although aspects of the development
of genomic medicine as they apply to the whole of the UK are discussed.
Whilst research, translation and service application of genomics
in medicine in Wales are co-ordinated with activity and policy
at a UK level, the devolution of responsibilities in health and
education to the Wales Assembly Government has created a number
of specific opportunities and challenges and some unique areas
For a summary of the issues surrounding genomic
medicine we would draw attention to the foreword written by Francis
Collins, Head of the Human Genome Project, in Genomics and
Clinical Medicine, Dhavendra Kumar and Sir David Weatherall (Eds).
Oxford University Press (2008). [Appendix 1]
NB Where the term NHS is used in this
document it should be taken to include all four National Health
Services in the UK. Use of the term NHS Wales will indicate
where the item is specific to the NHS in Wales.
1. POLICY FRAMEWORK
Who is in charge of setting and reviewing policy
in this area?
Who provides scientific advice on policy development?
Who monitors and anticipates potential scientific developments
and their relevance to future policy? How effective are these
Does the existing regulatory and advisory framework
provide for optimal development and translation of new technologies?
Are there any regulatory gaps?
In what way is science and clinical policy decision-making
informed by social, ethical and legal considerations?
How does the framework compare internationally?
1.1 The devolution of responsibilities for
health and education to the Wales Assembly Government (WAG) has
lead to some divergence from England in the setting and reviewing
of policy, including policies for research and teaching in the
University sector and the strategic prioritisation, development
and commissioning of health services in the NHS.
1.2 Scientific advice to WAG, and the monitoring
of scientific developments comes largely from a small number of
experts working in the field in Wales in the academic and NHS
sectors and from horizon scanning activity by the Wales Gene Park
that has an external advisory board of experts from outside of
Wales. Medical Genetics has a representative on WAG's Welsh Scientific
Advisory Committee (WSAC: Prof Julian Sampson) and on WSAC's Laboratory
Services Sub-Committee (LSSC: Dr Ian Frayling). Dr Frayling also
represents Laboratory Genetics on the Pathology Modernisation
Forum in Wales. The Chief Medical Officer for Wales has a representative
on the UK Human Genetics Commission (currently Professor Angus
1.3 We believe that the current UK regulatory
and advisory framework performs well in relation to its roles
relating to the development and translation of new technologies
but that there are important gaps in completing translation via
service implementation and ongoing assessment. Specifically, while
the development and scientific evaluation of new technologies
and tests may be undertaken adequately (in the academic and commercial
communities) there has been less success in evaluating the costs
and benefits of these technologies in the health delivery setting
(eg within the NHS) where local as well as generic issues may
be important. Improvement in this situation requires better integration
of health service research, health economics and the social sciences.
In Wales this major challenge is being addressed to some extent
through work (including joint projects) of centres of expertise
including the Wales Gene Park (funded from WAG) and CESAgen (the
Centre for Economic and Social Aspects of Genetics, with funding
from ESRC) at Cardiff University and the Genomics Policy Unit
at the University of Glamorgan.
1.4 In Wales, public engagement projects
are run by the Wales Gene Park and research projects that address
the ethical, legal and social issues (ELSI) are mainly run in
Wales by CESAgen and through the Institute of Medical Genetics.
Their experience and findings are reported to WAG and to DH and
UK Government bodies (for example the Human Genetics Commission
and HFEA). Examples of projects include a Citizens' Jury on designer
babies, a DH-funded project on hereditary deafness, projects on
genetics and insurance and a Wellcome Trust funded drama project
for Schools on genetics, mental health and identity. These initiatives
have revealed considerable public interest and liberal attitudes
to the application of genetic technologies in health settings,
especially amongst the young.
1.5 Most practitioners consider the regulatory
framework in the UK to be well balanced. In common with other
areas of rapid technological change, guidance from regulatory
bodies is often "playing catch-up" with newly emerging
research possibilities and the maintenance of an active dialogue
between parties is essential.
2. RESEARCH AND
What is the state of the science? What new developments
are there? What is the rate of change?
2.1 Technological developments in genomic
science are advancing rapidly, but here we focus on NHS-related
R&D, as submissions from other bodies will consider R&D
in academia and industry. New platforms for analysis are becoming
available, such as next-generation sequencing and high density
arrays ("DNA chips"). Existing sequencing platforms
used in NHS regional genetics laboratories have a capacity for
ca. 100,000 bp per day, although rather less than this is analysed,
because there is a limitation on how fast data can currently be
interpreted by Clinical Scientists. Next generation sequencing
platforms could be generating millions of bp of DNA sequence per
day. Similarly, DNA arrays (as used for comparative genomic hybridisation)
have rapidly advanced of late, from 3,500 probes, to 32,000, and
now up to 1.2 million or more. But, as data production methods
are increasing the amount of analysable data, so investment will
need to be made in IT and data interpretation software, as well
as the genomic data-gathering equipment, plus the staff to carry
out this work, for any benefit to be seen by patients.
2.2 It should be noted that most work on
technological development of platforms is currently directed at
the research end of the market, but manufacturers are aware of
diagnostic needs and moreover would wish to work closely with
the NHS to develop diagnostic methods, and the NHS wishes to reciprocate.
Indeed, because of the NHS the UK is probably in one of the most
advantageous positions in being able to offer manufacturers a
favourable environment in which to assess and develop products,
and the Institute in Cardiff would wish to play its part.
Who is taking the lead in the consideration and
co-ordination of research and the development of new technologies?
2.3 The National Genetics Reference Laboratories
(NGRLs) in England (Manchester and Wessex) have limited resources,
and they are doing what they can to co-ordinate work on developing
new technologies such as high density arrays and next generation
sequencing. The All-Wales Medical Genetics Service, recognising
the essential nature of developing new technologies and methods,
has always invested some resources in having a small NHS R&D
Genetics Laboratory, which strategy has proved most useful, especially
when combined in recent years with the resources of the Wales
Gene Park. We would wish to stress, however, that this is minimal
resources, and developments in the wider field of genomic medicine
must include co-ordinated investment across all four of the National
Health Services in the UK. Political and administrative barriers
must be set aside to achieve this for the greater good.
How effective is the policy and investment framework
in supporting research in this area?
2.4 It is problematic. Funding of development
work in the NHS in England has barriers (as described in the submission
from the JCMG), but funding in Wales (through eg the Welsh Office
of R&D) suffers through being low in comparison with England
and Scotland. In addition, clear direction needs to be given that
funding for the development of diagnostics is included in the
remit of governmental research-granting bodies. The investment
framework also needs to change, to recognise and reflect the fact
that this rapidly advancing technology is obsolescent almost as
soon as it is installed, and NHS rules regarding eg capital charges,
make it a high risk enterprise for individual NHS Trusts to invest
in such technology. As has recently been proposed in Scotland,
a rolling system of capital replacement would be an excellent
option, and if central support for capital charges could be obtained,
so much the better. As a fraction of the total amount of capital
in the NHS it would be very small, and thus a special case for
its treatment would not be destabilising, rather it would highlight
the special and particular nature of the area.
How does research in the UK compare internationally?
How much collaboration is there?
2.5 Research in the UK in this area compares
well with the best in the world. There is considerable co-operation
and collaboration, and professional bodies such as the Association
of Clinical Cytogeneticists (ACC), and the Clinical Molecular
Genetics Society (CMGS), under the umbrella of the British Society
for Human Genetics (BSHG), are in an advantageous position within
the NHS second to none. However, this is dependent on the administrative
and political barriers between the four NHSs being addressed.
The Institute of Medical Genetics in Wales works as closely at
it can with eg the NGRLs in England, but, for example, funds provided
to the NGRLs are not allowed to pass into Wales and vice versa:
rather "equivalent funding is expected to follow in the devolved
countries" which does not always happen. Development of genomic
medicine in the UK is a matter for the whole UK.
What are the current research priorities?
2.6 The two NGRLs in England are doing some
work on next generation sequencing and high density arrays, but
their resources are strictly limited. Equivalent resources in
Wales, such as they are, are directed to co-ordinate with and
complement the NGRLs' activity, but currently this is largely
directed at genetic, rather than genomic medicine.
What is the role of industry? How much cross-sector
collaboration takes place?
2.7 The role of industry is critical, as
the nature of the technology means that the NHS itself is in no
position to develop it independently, even if it had the resources.
Co-operation between industry and the NHS is essential, but NHS
resources to collaborate with industry are at best miniscule,
if only because actual and perceived rules, such as commissioners
not being allowed to fund "R&D", create huge barriers
to progress. If R&D were regarded more as R, D & S, indicating
"Research, Development and Service", that might help
break down this barrier. Research then would be thought more of
the remit of research funding bodies, and D&S rightly the
remit of the NHS.
2.8 Much mention is currently made of translational
research, without much definition of what is actually meant. From
an NHS perspective it means the development of a diagnostic test
that can actually be provided to patients, not a research paper
in a scientific journal presenting a new gene. Once the basic
work has been done, an individual accredited service laboratory
has to do a considerable amount of work in, often, completely
redesigning an analytical method used in research to suit it for
patient diagnostics. This is a crucial area of activity for which
the NHS makes minimal provision in support and funding. It is
not something that can be delegated to national laboratories,
rather it is the responsibility of each and every service laboratory,
or rather each Trust's pathology directorate, certainly those
in major teaching centres.
3. DATA USE
Is genomic information published, annotated and
presented in a useful way? Should there be a common, public database?
If so, who should fund, and have responsibility for, such an initiative?
3.1 There should be central co-ordination
of databases, made available publicly. Funding for any such enterprise
should be provided in perpetuum, so must be as secure as possible.
The NHS has a Diagnostic Mutation Database (DMuDB) run out of
resources allocated to the NGRL in Manchester, but this funding
is short term and unsecured, and only covers some aspects of genetic,
not genomic data. From now on, genetic and genomic data will be
required for healthcare, hence the need to provide for it effectively
on a permanent basis. The Human Gene Mutation Database (HGMD;
is run by Prof David Cooper and his team in the Institute in Cardiff.
HGMD strives to standardise, organise and record all data on published
mutations associated with human phenotypes. However, it is obliged
to exist on short term monies, by partnership with a private company
in Germany, but it is thus vulnerable because of commercial ownership.
In terms of co-ordination and forward thinking, the International
Society for the Investigation of Gastrointestinal Hereditary Tumours
(InSiGHT) is actively working towards a means of presenting the
contents of a number of related international databases on a single
website: such databases containing eg information on mutations,
interpretation of mutations, associated scientific literature,
3.2 There are few dedicated journals in
which new information on medical and health applications of genomic
science and technology is published. By contrast, several journals
are aimed at basic biotechnological research covering a range
of genomes. Examples include Genomics (Johns Hopkins University
Press) and Genome Research (Cold Spring Harbor Laboratory
Press). For material that could be ascribed more generally to
genomic medicine, the Institute of Medical Genetics in Cardiff
has taken the initiative in launching a new quarterly biomedical
journal Genomic Medicine. This is published by Springer
and the first issue appeared in September 2007 (www.Springer.com/journals/biomed/11568
). The remit of this journal is broad and covers all aspects of
medical and health applications of genome science and technology.
Is other medical information recorded in a suitable
format to allow optimal interpretation of genomic data?
3.3 No. Complete integration of the electronic
patient record (EPR) and laboratory information management systems
(LIMS) must occur, and this must include communication between
LIMS in different Trusts and NHSs. The NGRL(Manchester) has done
a considerable amount of good work in co-ordinating genetics LIMS
across the UK, but funding for the local implementation of LIMS
is left up to individual Trusts, so it is patchy, and risks inefficiency
and inequality. Within Wales much progress is being made in health
service IT, and in particular having a single LIMS across the
whole country, linked to a single web-based clinical portal. We
would urge those involved in NHS IT in England to benefit by seeing
what is being achieved in the Principality.
How should genomic data be brought together with
other health information?
3.4 As with all other clinically relevant
data, within the electronic patient record. However, there is
an extra dimension in this, as genomic data is genetic data, and
biological relationships must be provided for within the various
NHS IT system/s. And all various IT systems within the NHS must
be compatible, co-ordinated, and speak to each other.
What are the implications of the generation and
storage of genome data on personal data security and privacy,
and on its potential use or abuse in employment and insurance?
How should these be addressed?
3.5 The are, of course, implications for
medical confidentiality of genomic and genetic data, but there
is no good reason to exceptionalise genomics or genetics. NHS
IT system/s should continue to be developed so as to maximise
the confidentiality of all medical data, but at the same time
actual and perceived barriers between Trusts and the individual
NHSs in the UK must be overcome. It should be at least as safe
for two doctors to discuss an individual case by email within
the NHS, as it is to speak on the telephone or write letters on
3.6 In any event, data within accredited
service laboratories is subject to medical confidentiality and
the Data Protection Acts, as well as a raft of Standard Operating
Procedures (SOPs)as required by the laboratory accrediting
body (Clinical Pathology Accreditation; CPA). It is thus as secure
as can be under existing rules and regulations. There is no need
to increase or augment existing provisions.
What opportunities are there for diagnostics,
therapeutics and prognosticsnow and in the future?
4.1 Opportunities in diagnostics, therapeutics
and prognostics are presented by the increased resolution of genomic
technologies for categorising disease. Current diagnostic and
prognostic categories are often defined very broadly, concealing
genetic heterogeneity. Increasing capacity to define disease at
genetic and genomic levels is enabling progressive improvement
in individualisation and targeting of treatment. In Wales major
steps have been made in relation to molecular diagnosis and individualised
treatment for leukaemia and analogous research is underway in
bowel cancer (by means of MRC Clinical Trials Unit funding to
Prof. Tim Maughan, Chair of Cancer Studies, University of Cardiff,
in collaboration with the Institute of Medical Genetics).
4.2 Translation to clinical practice has
been the focus of reviews, commentaries and debate. The leading
editorial in the first issue of Genomic Medicine examined
the evidence and described genomic medicine as the new medical
frontier for the twenty first century (Reference: Dhavendra Kumar
(2007). EditorialGenomic medicine: a new frontier of medicine
in the twenty first century. Genomic Medicine 1(1&2):3-7.
Who is responsible for translation to clinical
4.3 Currently, this responsibility rests
with a number of institutions and individuals, primarily within
the NHS. Individual departments, Trusts and services all play
a part. Within NHS genetics the NGRLs are able to assist. Individual
scientists and academic medics do what they can, in a background
of financial stricture continually eating into what little funding
there is for development work. Any industry that fails to support
its R&D activities does not survive for very long. NHS staff
are ideally placed to translate genomic medicine into clinical
practice and just require the resources to do this. Effort should
be put into streamlining and simplifying the availability of funds
for this within the NHS.
Given the pace of technological advance, how "future-proof"
is healthcare investment in this area?
4.4 As mentioned above, the pace of advance
means that future-proofing is minimal. The NHS typically thinks
of a piece of capital equipment within pathology as being written
off in a 10 year timeframe. That items of genetic laboratory equipment
can be obsolete within less than half this time is immensely stressing
to NHS finances and Trusts, who are required to cover capital
charges. This is a very great barrier to progress. It is recommended
that a rolling system of capital funding be provided throughout
the four NHSs, with central provision of capital charges, and
that adequate provision also be made in recurrent funding for
maintenance charges of such equipment (for a diagnostic laboratory
to maintain its accreditation, its equipment must be maintained
under service contractsthis often puts a considerable barrier
in the way of acquiring perfectly good and usable equipment second-hand
from research bodies, eg the Wellcome Trust and Universities.)
How does the UK compare to other countries and
what lessons can be learnt?
4.5 The UK compares well, but is perhaps
not the best at translating research into diagnostics. In The
Netherlands, for example, service diagnostic laboratories are
more easily able to acquire new state-of-the-art equipment, and
the staff to develop and run them. Genetics laboratory services
within the Netherlands are probably the best in the world, and
it is suggested that the UK look more closely to see how they,
and others, manage this.
How meaningful are genetic tests which use genome
variation data? What progress has been made in the regulation
of such tests?
4.6 Much work requires to be done, to establish
a sufficient knowledge and logic base to interpret genomic findings
for clinical use. However, it is evident that work by the likes
of Prof Donnelly's Department in Oxford, and others, is addressing
this. In such a cutting-edge area, however, it is essential that
a balance be struck between those who wish to pioneer such new
services and what might be termed "acceptable medical practice".
The public should be left in no doubt as to the risks of obtaining
advice and tests from outside of the NHS, given that such services
may not be provided by experienced, trained, qualified and registered
individuals working within appropriately accredited laboratories.
This has been highlighted to the HGC by Dr Frayling and Prof Angus
Clarke inter alia, subsequent to the television program
The Killer in Me (ITV1 9pm Thursday 8 November 2007), but
the HGC having no statutory powers is only able to offer the advice
that trading standards law be invoked. [see also: Lenzer J and
Brownlee S. (2008) Knowing me, knowing you: Direct to consumer
genetic testing. BMJ 336, 858-860.]
In what way do genome-wide association studies
contribute to the identification of biomarkers? How is the study
of genetic factors and biomarkers integrated for translational
What impact will genomic data have on data emerging
from projects such as UK Biobank, Generation Scotland and other
5.1 The value of biobanks depends on the
quality of clinical, environmental and biological data (including
genomic data) they contain. Their processes of data accrual are
usually incremental. We (as others) expect the value of the information
associated with biobanks to increase over the long term. Limiting
factors are more likely to relate to resources for data analysis
(particularly human resources for bioinformatics) and clinical
data quality than genomic data. Wales is making a significant
contribution to UK Biobank, and the Wales Cancer Bank is the leading
UK resource of its kind for cancer research.
6. USE OF
What impact will genomic information have on the
classification of disease? How will it affect disease aetiology
and diagnostic labels?
6.1 Genetic information is already having
a significant impact on the classification of disease. Using genetic
tests that link specific genes or chromosomal regions with disorders
that follow Mendelian inheritance patterns or that result from
gains or losses of parts of chromosomes provides a robust way
of defining and diagnosing many genetic and genomic disorders.
6.2 Genomic information is also impacting
on classification of many complex disorders in which gene play
a role. Psychiatric disorders have, until now, been classified
on the basis of their symptoms. Genetic approaches are likely
to change this as the genes and biochemical pathways that are
perturbed in these disorders are defined enabling new and more
functional possibilities for classification that may better predict
response to alternative treatments at an individual level. The
Neuropsychiatric Genetics Unit at Cardiff University is making
a significant contribution to research in this area and projects
supported by the Wales Gene Park and CESAgen are enabling social
scientists to investigate the impact of this new knowledge on
professionals and patients.
6.3 The classification of cancers is entering
a period of rapid change as cancers that were previously "lumped
together" by the organ involved and histopathological characteristics
are recognised as comprising several distinct genetic sub-groups
that can be defined by genetic testing and that have differing
prognoses and treatment needs.
[See also Dhavendra Kumar (2008). Genetic
and genomic approaches to taxonomy of human disease. In "Genomics
and Clinical Medicine", Dhavendra Kumar and Sir David Weatherall
(Eds), Oxford University Press, New York, pp 75-92.]
How useful will genomic information be as part
of individualised medical advice? What provisions are there for
ensuring that the individual will be able to understand and manage
genomic information, uncertainty and risk?
6.4 Genetic advice is given at many levels
in health care. It is not possible or desirable to restrict this.
Rather, health professionals should achieve core competencies
appropriate to the settings in which they work. This approach
has been adopted in the work of the National Genetics Education
and Development Centre and the element of its work focused on
genetics competencies for nurses that have been developed in Wales.
However, it is desirable to regulate laboratories that generate
genetic and genomic information on individuals for their health
care. The NHS laboratories that comprise UKGTN (UK Genetics Testing
Network) already work within a tightly regulated system and link
coherently with health care professionals working in the clinical
setting to ensure appropriateness and accuracy of genetic test
6.5 There is very little disagreement on
the importance of individual genomic information as a prerequisite
for the practise of personalised medicine. This would undoubtedly
require a number of provisions to be put in place including accuracy
of the genomic data, confidentiality of the data, consent for
specific uses of the data, evidence for clinical usefulness (diagnosis,
prognosis, therapeutic decisions etc.), ensuring that the individual
has understood the need and limitations of the genomic information,
uncertainty and risks involved.
6.6 Despite intensive debate and some reservations,
the modern clinical practice has become "evidence-based".
This depends on the level of evidence, nature of evidence, specific
clinical circumstances and some limitations. Nevertheless all
clinicians do their best to follow "evidence-based"
style of clinical practice. Regular clinical audit cycles based
on accepted standards are now routinely conducted in majority
of the clinical settings. The emergence of genomic medicine revalidates
the argument in favour of "evidence-based medicine"
(Kumar, 2007). The practice of modern medicine, including health
promotion and prevention of disease, stands now at a wide-open
road as the scientific and medical community embraces itself with
the rapidly expanding and revolutionising field of genomic medicine.
Khoury and Bradley (2007) strongly support the move of "evidence-based
genomic medicine" and caution to avoid taking shortcuts on
the "translation highway" from genome discoveries to
clinical medicine and population health. They are optimistic as
genomic medicine offers a crucial widow of opportunity to embrace
evidence-based medicine and use its tools to conduct appropriate
research and evaluation of genome-based technologies. The rapprochement
of genomic medicine and evidence-based medicine is an essential
step to fulfil the promise of genomic medicine in the 21st century.
Khoury MJ and Bradley LA (2007). Why should
genomic medicine become more evidence-based? Genomic Medicine
Kumar, D (2007). From evidence-based medicine
to genomic medicine. Genomic Medicine 1:95-104.
Should there be a regulatory code (mandatory or
voluntary) covering the provision of this advice?
6.7 Yes, but such powers as are necessary
could be invested in a body such as the HGC, so that they are
able to regulate activities in this area. This would have little
if any impact on NHS services, employing as they do registered,
trained and experienced personnel, and utilising accredited laboratories.
However, services outside of the NHS that do not work in this
fashion might thus need to justify their actions, for the protection
of the public, without necessarily stifling the development of
new approaches. Simply for other practitioners to be aware that
there was a regulatory body would mean that they sought advice
about offering new services before potentially finding themselves
in difficult territory.
What are the implications of developments in genomic
technologies for the training of medical specialists and other
health professionals? Are there any gaps that need addressing?
What is the assessment and planning for future needs in capacity?
6.8 In order to realise the potential for
these direct benefits to patient care there will need to be investment
in high throughput genomic technologies and changes in the training
of clinical scientists to handle and interpret large amounts of
genomic data. In parallel, there is a significant educational
challenge in familiarising health care professionals with these
concepts and introducing genetic and genomic information into
patient care. In Wales, the University of Glamorgan is leading
on genetic education for nursing professionals in an integrated
programme of wider genetic education in the UK run through the
NHS National Genetics Education and Development Centre
in Birmingham. The Wales Gene Park runs a full programme of educational
events for health professionals from across the UK and a wide
range of events to raise public awareness, particularly through
schools. These measures will help to ensure that risk information
relating to inherited predisposition to disease can be communicated
adequately to patients and families and understood.
6.9 Similarly, there are very considerable
implications in respect of genomic medicine for the training and
education of health professionals in clinical laboratories. To
understand this it is necessary to understand how genetics laboratories
are currently staffed. Laboratories in the UK are headed by Clinical
Scientists of Consultant status (NHS Agenda for Change Bands 8c-9),
with test development, data interpretation and test reporting
carried out by Clinical Scientists (Bands 7-8b). Data production
is by Medical Technical Officers (MTOs), mostly in Band 5. This
structure has developed because such laboratories have grown relatively
recently from research laboratories, but it means that laboratory
genetics has developed in the UK without the development of a
cadre of medically-trained genetic pathologists. Such medical
input as there is to NHS genetics laboratories is via Clinical
Geneticists, who are trained as physicians, not pathologists.
For genomic medicine to progress as well as it might, the combined
skills of both clinical scientists and medically-trained pathologists
will be required.
6.10 A number of years ago, pre-genomics,
the medical specialty of Clinical Cytogenetics and Molecular
Genetics (aka Genetic Pathology) was set up with a view to
training a cadre of pathologists specialised in laboratory genetics.
Specialist Registrar training posts were established in three
UK centres (Cambridge, Cardiff and London). Despite this, there
have only been four individuals trained in the specialty, one
of whom has emigrated to Australia, one is employed as an NHS
clinical geneticist, one is a senior research scientist, and the
other is the only one employed as an NHS Genetic Pathologistas
the Laboratory Director of the All-Wales Medical Genetics Service.
Part of their remit is specifically to foster development of molecular
and genomic medicine. There are a number of individuals in the
UK qualified in Genetic Pathology via an academic route, including
the Dean of a medical school and two Professors of Cancer Genetics
(one of whom was, until recently, Director General of Cancer Research
UK), however, there are no NHS posts other than the one in Wales,
despite attempts by the specialty and the Royal College of Pathologists
to highlight this via the NHS Workforce Review Team and the RCPath's
Workforce Advisory Group. A number of junior doctors were interested
in training in the specialty last year, but in the absence of
funding for the specialist registrar posts, and more importantly
in the absence of any funding for Consultant posts, they had to
be dissuaded, and indeed the RCPath was reluctantly obliged to
recommend decommissioning of the specialty for training purposes
this year. The RCPath has made it clear that both clinical scientists
and medically-trained genetic pathologists are needed, and this
is highlighted in the submission from the SAC in Histopathology.[see
also: The Future Role of Medical Graduates and Consultants
in Pathology Services. RCPath 2004]
6.11 As genomic medicine progresses there
will be an ever burgeoning requirement to interpret highly complicated
data in the setting of clinical care. In all other pathology specialties
this is generally provided by medically trained individuals, because
it is precisely their training that allows the synthesis of data
from many streams and to put that in the context of clinical care.
There is also a need to integrate genomic medicine into all other
pathology specialities (let alone the rest of medicine), and medically
trained individuals with a broad background are better placed
to do this. If the NHS in Wales finds it useful to employ a Genetic
Pathologist, we would argue that this practice should be extended
across the UK, but there will need to be central direction and
support in establishing Consultant posts in the specialty outside
of Wales, because Trusts will inevitably see such posts as low
priority compared with more front line specialties.