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Page 6 of 10 Barwell et al. J Transl Genet Genom 2018;2:13. I https://doi.org/10.20517/jtgg.2018.17

Education
HEE has a dedicated Genomics Education programme (GEP) which aims to help the delivery of the findings
from the 100,000 Genomes Project into mainstream clinical practice by educating the NHS workforce [12,13] .
In order to achieve this it has commissioned 7 UK universities to run a master’s level qualification in genom-
ic medicine, with a syllabus designed for NHS professionals. This course can be undertaken as a full mas-
ter’s degree (12 modules), a postgraduate diploma (8 modules), a postgraduate certificate (4 modules) or as
individual continuing professional development modules in, for example, “pharmacogenetics and stratified
medicine”. These courses have a set number of NHS commissioned places for eligible staff funded by GEP. It
runs a module that directly uses data from the project and provides access to the GE research environment
in a training-capacity only, but with the possibility of applying to the GeCIP to undergo research. HEE also
funds fellowships in genomics within the NHS and genomics community, to try and stimulate active practi-
tioners to use the 100,000 data for research that will inform their clinical practice. In addition, there is a free
course on WGS and its implications, available online.

A roadmap designed in 2016 [Figure 2] to establish the standards of an effective genomic medicine service,
including a bronze-silver-gold rating system of their implementation. Self-assessment can be made against
these aims using a red-amber-green system for limited, significant and good progress. Our anticipated prog-
ress has been delayed somewhat by bioinformatic capacity challenges at the time of laboratory transforma-
tion and consolidation, delaying result giving and demonstrating patient benefit.

Consent
It is important that clinicians and patients have a frank and open discussion about the possibilities and limi-
tations of genomic testing when consent is obtained. They must plan how the results are to be interpreted
and communicated. There is understandably a desire to share positive news about families where mutations
are identified that change management but this is still only the case for a minority of families at the pres-
ent time. Patients need to be aware of the limitations of testing, particularly in chronic complex diseases.
Individual patients need to have a careful discussion with their physician about how they wish to receive the
results. Possible outcomes to be anticipated and considered included finding no clear pathogenic variant or
conversely an unexpected incidental finding that may have future health implications.

The test directory
The NHS in England has established a directory of genetic tests available for patients with rare genetic dis-
ease or cancer. Tests will be offered in a standardised way across the nation, with clinical eligibility criteria
stated in the directory. There will be a standardised consent form for genetic testing, with scope for patients
to opt for involvement in future research projects and, when WGS is carried out, to receive additional inci-
dental and potentially actionable findings. All of these developments build on lessons learnt in the 100,000
Genomes Project.

Tests in the directory may be ordered by a clinical geneticist or a specialist in secondary care. Although
some of the processing of samples will need to be carried out locally in a timely fashion, the majority of the
analysis will be carried out in one of a smaller number of large accredited laboratories that will be consoli-
dated through the establishment of genomic laboratory hubs. Processing of blood, saliva or fresh tumour
tissue to provide high quality samples for WGS is labour intensive and technically demanding, particularly
when it is being established parallel to existing services with limited additional funding and current uncer-
tainties about the future of local laboratories. This is compounded by a likely change to the role of pathology
workforce to include more complex sample preparation to ensure the most informative parts of specimens
are analysed and downstream bioinformatic interpretation. As is the case for many multi-step processes, any
technical or motivational problem with patient identification, phenotyping, sample retrieval and processing,
data analysis, clinical interpretation or communication to the patient could hinder the effective implementa-
tion of genomic medicine.