Are the proposed changes to regional genetic laboratory services clear and
understandable?
Overall the direction of travel with increasing integration with other pathology disciplines is
very much welcomed. The aims and objectives are clear and fully supported by the ACGS
and its members.
In the service description and care pathway there is insufficient detail regarding the strategic
network of the Genomic Central Laboratory Hubs (GCLH) and most particularly the
relationship between the network and existing structures within the other pathology
disciplines. In order to respond to the invitation to tender, an organisation (or local network
forming the Genomic Local Laboratory Hub (GLLH) will need to have defined what is
required, bearing in mind the diffuse, opaque arrangements for pathology in many Trusts
where they exist largely as an overhead on other services.
It is not clear what aligned means with respect to the Biomedical Research Centres (BRC),
Biomedical Research Units (BRU) and Academic Health Science Centres & Networks
(AHSC&N). It is assumed that there needs to be a relationship with these entities – how
formal do these relationships need to be?
The greatest uncertainty lies with the structure and content of the GLLHs. Without that
clarity, defining the network structure and relationship between the GCLHs and GLLHs is
impossible and thus also the associated risks and challenges. It may be that the GLLHs, at
least initially, simply encompass all the repertoire of tests included in the scope that are not
provided by the GCLH. If this is the case, the situation will vary across England with some
GCLHs already providing the vast majority of the testing in scope and therefore GLLHs will
be very limited in those areas, whereas in other areas the GLLHs will deliver a substantial
proportion of the workload and there may be multiple GLLHs networked to one GCLH.
The use of Key performance indicators (KPI) and benchmarks, both for the purposes of
procurement and managing the resultant structure, is entirely uncontroversial and routine for
the laboratories.
Will the proposed approach deliver ‘state of the art’ genomic laboratory facilities and
improvements for patient benefit for the NHS in England?
A critical attribute of a state of the art NHS Genomics Laboratory network will be a network
which can effectively manage change at scale and pace. This will require extremely robust
governance mechanisms that ensure patient safety whilst encouraging and delivering
changes in technology and the patient pathway in a validated and evidence based process.
It is not clear how this will be delivered through the network process.
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Future-proofing will also require that the organisations in the network have robust
mechanisms to disseminate developments where the patient agenda takes precedence over
for example research interests. This can be challenging where there are close links to
research groups, which benefit the patient by fostering development but also have concerns
regarding Intellectual Property (IP). It may be that the strategic network will have a role in
managing this and/or the AHSNs and/or Collaboration for Leadership in Health Research
and Care (CLAHRC).
State of the art will be determined and driven ultimately by the funding and commissioning
mechanisms which must be aligned to deliver equity. In addition there will be internal
pressures from the host trusts which may impact unevenly upon the GCLHs and GLLHs and
lead to in equity. It would be helpful to have a more defined relationship with the host trusts if
that is possible.
Underlying the ongoing success and development of the Genomics network will be training
and education. The ACGS plays an active role in this, across the professional groups and
welcomes the inclusion of this in the aims and objectives.
NHS England preferred approach is to commission genetic laboratory services for
patients over seven days a week in line with plans for other NHS services. Do you
agree with this approach?
A key element of the specification is a more integrated approach with other pathology
disciplines. We recognise also that the developing MSC programme involve integration
across disciplines of all pathology staff into common structures, initially for training but
ultimately to deliver a diagnostic process more tailored to the patient and the patient
pathway. Other disciplines are already working in a 7 day or 24/7 environment and this will
necessitate the genetics laboratories aligning to this. We should not been seen as
“exceptional”.
However it is crucial, in this financial environment that this is addressed using a systematic
approach; a key part of the role of the NHS Genomics laboratory structure and the GCLHs
will be to establish transition pilots to identify how best to deliver extended working hours
whilst containing cost.
Are there any inequality/health equalities issues which you think should be
considered in making a decision about the future delivery of genetic laboratory
services in England?
It is clear that there is not an equitable delivery nor managed development of genetic
services with patients having differing access to tests across the country with differing
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standards of delivery eg Turnaround Times (TATs). This is constantly changing and
evolving, not necessarily for the better, and underlying are many factors contributing to an
immensely complex issue. The main factors are funding and commissioning (which includes
the arrangements within host Trusts); and delivery of existing services where differing
technologies, staff structures and management produce services of different standards when
considering agreed KPIs such as TATs and level of analysis required/appropriate. Also there
is variation that is not captured by the existing KPIs, though the Best Practice Guidelines go
some way towards correcting this. However these problems are not unique to genetics and
genomics and key will be to establish mechanisms within, and more importantly between
GCLHs, to ensure that equity is achieved.
Number of GCLHs and equity: it is important that there are robust mechanisms in place
which ensure that all patients get access to the same quality of testing including TAT. For
tests with a rapid TAT where there is, as yet, no Point of Care Testing, this will require robust
sample transfer or development of local delivery at the GLLHs with the possibility of
outsourcing the analysis/interpretation to the GCLH which will allow expertise to the
centralised, more robust cover and standardisation. However with rationalisation of genetic
testing between the GCLHs there will be a requirement for sample referral and exchange to
be improved and streamlined. This should be an explicit requirement in the specification. In
addition there needs to be continuing development of the capability of the UKGTN and the
content and structure of the Catalogue of Laboratory Medicine to enable labs to refer
samples to the correct laboratory rapidly and automatically.
Number of GCLHs and research: An active genetics/genomics GCLH should be and will be
an asset to the local research activity of Universities and Medical Schools and will contribute
to and drive forward research and research ideas. It will be imperative that the specification
addresses this and includes a requirement for planning regarding the research environment ,
to ensure that cities and city regions are not disadvantaged by loss of a genetics/genomics
facility.
Number of GCLHs and pathology: this has been at least in part addressed by the formation
of GLLHs and the local networks; however this needs further clarification.
IT infrastructure will need to be addressed to ensure that there are not inequities introduced
by failure of data transfer or sharing. There needs to be more explicit requirements regarding
IT infrastructure.
Are there any other considerations which need to be taken into account, which have
not been covered in the proposals?
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