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Page 4 of 10 Barwell et al. J Transl Genet Genom 2018;2:13. I https://doi.org/10.20517/jtgg.2018.17

carrier findings and additional incidental findings. Results are then confirmed and collated at the data centre.

At the data centre, the resulting data are made available both as anonymised research data, as well as com-
bined with identifiable data to provide clinicians with practical conclusions from the sequencing analysis.
This clinical data is also accessible for research purposes through a coalition of NHS and academic research-
ers that form the GE Clinical Interpretation Partnership (GeCIP), which itself is split into 42 domains based
on speciality.

Patient engagement
The 100,000 Genomes Project has sought to catalyse the development of a full genomic medicine service
through variant interpretation, gene mapping and the provision of information about the effectiveness of
treatment based on inherited and somatic variants. In addition the project has included initiatives to en-
[4]
gage patients in the development of a genomic medicine service . This is to reassure patients about the data
sharing and confidentiality agreements. This is important given the aim to generate a clinical, research and
pharmaceutical industry facing matched and anonymised clinical and genomic record database that can be
linked to other international cohorts.

We have developed a stakeholder group with both individual patient and established support group rep-
resentation for outreach, oversight, insight, lobbying and individual patient support. This has resulted in a
number of projects to engage seldom heard from communities, a prominent national media campaign, and
leading a national helpline. In addition we have contributed evidence to two parliamentary select commit-
[5,6]
tee reports that have changed national policy on the role of the National Health Service (NHS) UK-wide
Clinical Research delivery team, the “Clinical Research Network”.

Patient involvement has been improved in four ways and (its) progress (is) assessed in Figure 2.

Raising community awareness through classical and social media channels
[7]
Accounts of the “Angelina Jolie effect” and the three sisters affected with breast cancer in less than a year
[8]
and a half were able to resonate with others to show the value of genetic testing and the impact it can have
on health behaviour. With mainstreaming in mind, we have reached out to clinical colleagues in primary
care and secondary care through talks, workshops, teaching sessions, webinars, triage aids, simple and
streamlined referral systems, the media and the offer to embed staff in services. The pressures of acute hos-
pital service delivery and the resulting financial and digital constraints, alongside delays in receiving results
have at times made it difficult for colleagues to fully to embrace the potential benefits of genomic medicine.

Taking the message to the people through town centre mobile information centres and stalls at festivals
This has involved working with stakeholder charity groups to offer clinical advice and coordinate support
for peer patient champions. With increasing availability of medical information online, our relationship with
patients will evolve to include more sign-posting: providing opportunities for them to speak to other pa-
tients that have been through similar experiences. This is particularly relevant in Black and Minority Ethnic
[9]
groups where building trust through the use of community champions and the language used is important
to ensure equity of access. In turn, this can aid the interpretation of rare variants and improve our under-
standing of the cause of diseases more prevalent in certain populations.

The development of academic partnerships
With the Clinical Research Network, the University of Leicester Precision Medicine Institute for person-
alised medicine, AstraZeneca and other pharmaceutical companies culminated in a conference held in
[10]
March 2017 . This shaped a shared vision for genomic medicine and developed strategies for somatic test-
ing of tumour tissue. We included patients in a regional stakeholder group to provide oversight to the clini-