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Page 2 of 7 McNamee. J Transl Genet Genom 2018;2:20. I https://doi.org/10.20517/jtgg.2018.24

healthcare outcomes. As the population ages there is a strain on healthcare systems to treat the increasing
number of patients suffering with multiple medical conditions that require polypharmacy. Personalized
genomic medicine will be at the forefront of improving the prescribing of drug treatments to help meet the
challenge of delivering a more efficient modern healthcare system, especially for those patients suffering with
multi-morbidities.

The advent of personalized genomic medicine offers an opportunity to maintain a more healthy population
by preventing disease. Studying a patient’s genomic profile predicts the risk of disease, particularly where
there is a family history of disease; for example, variants in the BRCA genes increase the risk of breast and
[4]
ovarian cancer . Patients with BRCA variants have the opportunity to opt for preventative treatment, such
as elective surgery or close monitoring, to mitigate their high risk of disease, or adopt changes in life style to
minimize the risk. For example, the famous actress Angela Jolie had surgery to prevent breast cancer when
she discovered she had inherited the BRCA1 mutation. Gene sequencing to evaluate the risk of transfer-
ring an inherited disease may become part of couple’s reproductive decisions to prevent the transfer of a life
threatening genetic condition to the next generation.

This move away from basing clinical decisions on the signs and symptoms of disease to offering genomic
medicine began at the turn of the century and has attracted worldwide interest. For example, the UK has
recently produced a National Health Service (NHS) genomic medicine strategy and an industry life sciences
[5]
policy to lead the way in encouraging the development of personalized genomic medicine to improve pa-
tient care, president Obama launched the precision medicine initiative in 2015 in the USA.

OPPORTUNITIES FOR PERSONALIZED GENOMIC MEDICINE
Diagnosis of disease
Technological advances at pace have significantly improved the diagnosis of disease and moved the field of
personalized genomic medicine forward. For example, whole genome sequencing becoming ever more af-
fordable for research has led to the identification of many different subtypes of disease within each disease
category. Whole genome sequencing and gene panel tests are becoming increasingly common as part of the
diagnostic process to identify disease subtypes more precisely to offer patients personalized treatment. Novel
sequencing techniques, and gene panel tests, have identified how the presence of genomic variants in some
patients affect their drug metabolism making pharmacogenomics (the study of how a patient’s genetic profile
affects the way in which they respond to a particular drug) an essential part of selecting the most appropri-
[6]
ate drug to prescribe at the correct dose . For example, oncology is leading the way in using pharmacoge-
nomics to support clinicians select the safest and most effective medications for patients with cancer from
[7]
the start of their treatment . The development and increasing use of these types of genomic diagnostic tests
is moving personalized medicine forward. The US Food and Drug Administration (FDA) produces a com-
[8]
prehensive list of information on pharmacogenomic biomarkers found in drug labeling .

The development of companion diagnostics alongside drug development is popular with the pharma industry
[9]
and is becoming a very lucrative global industry . Companion diagnostics (for example, a genetic test or in
vitro biomarker diagnostic assay device) identify which patients will gain benefit from a particular drug so
supports the development of personalized medicine. However, issues around who funds the development of
companion diagnostics, and once developed how to repay the cost of their use (and use of other genomic tests)
to healthcare providers in the clinical setting have yet to be resolved. Resolving these issues and increasing the
use of companion diagnostics will enable practitioners to select treatments that are effective from the onset of
treatment and so reduce clinical visits ultimately making significant savings on healthcare costs.

Projects using genomic medicine diagnosis
Often patients with rare diseases have no definite diagnosis or specific treatment available for their condition.
Genetic variants cause many rare diseases so clinicians are turning to genomics to obtain a diagnosis and to