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Barwell et al. J Transl Genet Genom 2018;2:13. I https://doi.org/10.20517/jtgg.2018.17 Page 9 of 10

invasive disease; (8) ask patients about communication preferences around consent, re-contact and results; (9)
don’t underestimate the power of patient stories but these anecdotal reports are not a substitute for academic
rigour; and (10) be aware that genomic testing does not mean sequencing alone. It involves identification,
registration and phenotyping, consent, sampling, processing, sequencing, interpretation, result giving, treat-
ment and cascading.

CONCLUSION
Primary and secondary care physicians frequently claim that genetic testing can help a few patients with
very rare disease but it fails to add diagnostic and prognostic power for common polygenic disorders. It is
also asserted by many that the results rarely alter treatment or take too long to be available, so generic treat-
ment has to be offered in the first instance. These concerns to date have been valid. Genomic testing has
however proved to be of value in the diagnosis of rare inherited disease, particularly in presentations when
one of a large number of candidate genes may underlie that individual patient’s phenotype. The 100,000
Genomes Project aims to change the way patients are diagnosed as well as how personalised treatments
and cascading of risk information is carried out. For the lady mentioned at the beginning of the article, this
means a fresh tumour sample being processed and analysed for somatic mutations that may be useful for de-
signing treatment as well as identifying potentially significant variants that may be also present in the germ-
line with wider implications for future cancer risk for the patient and/or their relatives. With routine tumour
testing being instigated nationally and efficient family cascading, it is possible in time that the majority of
families with mendelian susceptibility could be detected and thereby changing the role of the clinical geneti-
cist and cementing links within medical oncology.

DECLARATIONS
Acknowledgments
We like to acknowledge the support of the East of England Stakeholder 100,000 Genomes Project partner-
ship group.

Authors’ contributions
All of the authors contributed intellectually and practically to this piece.

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
These are the individual views of the authors. Dr. Julian Barwell is also employed by the East Midlands Clin-
ical Research Network and has received honoraria from AstraZeneca for running personalised medicine
workshops.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2018.