When the Human Genome Project was declared complete back in 2003, there were high expectations set for genomic medicine. However, it has taken over a decade to begin moving from vision to reality. Today, the number of success stories remains relatively small, but they do stretch across the healthcare ecosystem, incorporating the prediction of drug responses, the diagnosis of diseases and the identification of targeted therapies. Stakeholders ranging from patients, healthcare providers and payers, researchers, diagnostic companies, policy-makers, life sciences businesses and governments now believe genomic medicine to be a potential game-changer

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Genomic Medicine
March 2015
Market demand, consumerism and innovation are all driving
the development of targeted therapies, meaning genomics
are beginning to be recognised as an industry game-changer.
But with very few success stories and a lack of legal framework,
is this approach to medicine likely to become a reality?
When the Human Genome Project
was declared complete back in 2003,
there were high expectations set for
genomic medicine.However,it has
taken over a decade to begin moving
from vision to reality.Today, the
number of success stories remains
relatively small, but they do stretch
across the healthcare ecosystem,
incorporating the prediction of drug
responses,the diagnosis of diseases
and the identification of targeted
therapies. Stakeholders ranging
from patients, healthcare providers
and payers, researchers, diagnostic
companies,policy-makers,life sciences
businesses and governments now
believe genomic medicine to be a
potential game-changer (1).
The challenges facing the industry
are well-documented, and embracing
genomic approaches across the entire
value chain represents a transformational
opportunity for pharma companies
(2).Three forces are driving this
optimism: innovation in biology
and technology, consumerism
and market demand.
Biotechnology Innovation
Currently, highly specific panels
of genes are being used in
oncology testing. Such panels
check for the expression of
multiple genes known to be
associated with certain cancers
(3), and today, pharma has an
increased understanding of complex
pathways to assist in the development
of targeted drugs.Additionally,the
finding of new biomarkers can be used
for a wide range of molecular diagnostics
Genomic medicine is the application of the science
of genomes, as opposed to genes, to the practice
of medicine. The National Institutes of Health
describes a genome as “an organism’s complete
set of DNA, including all of its genes. Each genome
contains all of the information needed to build and
maintain that organism. In humans, a copy of the
entire genome – more than 3 billion DNA base pairs
– is contained in all cells that have a nucleus” (4).
The Definition of
Genomic Medicine
Heather Fraser at IBM
Image:©adimas–Fotolia.com
Precision Prospects

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technological mix that is pushing
genomics forward.This convergence has
led to near-instant dissemination of fresh
discoveries,as well as new forms of social
and scientific collaboration.
Regulatory Role
As genomic medicine continues to
proliferate,the importance of a solid
privacy,ethical and legal framework to
support the complexity of the tool will
become vital.
To date,the regulator’s role in genomics
has primarily been concerned with
protecting consumers from a privacy
and legal stand-point. In the US,The
Genetic Information Nondiscrimination
Act of 2008 protects citizens from
discrimination based on the results
derived from a genetic test. Other
privacy considerations include informed
consent (for both genetic testing and
research purposes) and confidentiality,
such as anonymising data.
Social and ethical aspects of genomic
medicine will also require further
attention and clarification.In the UK,a
voluntary agreement – the Concordat and
Moratorium on Genetics and Insurance –
exists between the government and the
Association of British Insurers to ensure
that individuals are not debarred from
health or life insurance as a result
of genetic testing (8).
In Europe, the EMA has recently
distributed a consultation paper intended
to form the basis of good genomics
biomarker practices.With this guidance,
the EMA aims to enhance transparency,
consistency,reproducibility and cross-
validation between genomic-driven
and drug identifications,and can also
provide more specificity for product
development.Innovative clinical trials
can lead to accelerated approval of
targeted drugs that meet the criteria of
efficacy,utilisation and cost-effectiveness.
Technological innovations – such as
high-performance computing platforms
– are keeping pace with that of gene
discovery and whole-genome sequencing
cost and speed.Furthermore,cognitive
computing allows a system to make
use of natural language processing and
machine learning to ingest large and ever-
expanding data volumes.It can be trained
to provide – with high accuracy and
speed – advice that is otherwise manual,
time-consuming and prone to missing
available evidence. New awareness,
understanding and clarification will
set the stage for the discovery and
generation of fresh ideas.
The New York Genome Center (NYGC)
and IBM are partnering in a first-of-a-kind
programme to accelerate personalised,
life-saving treatment for cancer patients.
Together,both organisations will test
a unique Watson cognitive technology
prototype, designed specifically for
genomic research as a tool to help
oncologists deliver more individualised
care to cancer patients.
NYGC and its medical partner institutions
plan to initially evaluate the Watson
technology’s ability to help oncologists
develop more personalised care to
glioblastoma sufferers:an aggressive
and malignant brain cancer that kills
more than 13,000 people in the US each
year.This initiative aims to speed up
the process of analysing genetic data,
along with comprehensive biomedical
literature and drug databases,in order to
unlock insights that will help clinicians
bring the promise of genomic medicine
to their patients (5).
Such studies enable discovery by
integrating information related to
problems that previously required large
amounts of manual work,and whose
solution attempts were potentially prone
to missing evidence.The implications
of improving innovation are highly
relevant for the pharma industry as it
seeks ways to reduce the time and cost
of developing drugs that are efficacious
and highly targeted.
Consumerism
The growing commercialisation of
genomics is evident in the increased
uptake of direct-to-consumer testing,
as well as in more recent regulatory
concerns and recommendations
about such technologies.These
have led to genomics attracting
new media attention and becoming
more‘mainstream’.
The gene company 23andme
launched their genetic service in
the UK in December 2014 – despite
violating regulatory codes for medical
devices in the US.They chose the UK
as it is a genomics world leader, and
because the Medicine and Healthcare
Products Regulatory Agency does not
consider their personal genome testing
kit – designed to give details about a
person’s health risks based on their
DNA – to be a device (6).
Market Voice
Today,there is a demand for novel ways
of impacting health outcomes through
innovative therapies.In the industry,
there is an increased expectation and
market demand for targeted drugs and
tests that can offer significant benefits
quickly,as opposed to incremental
advantages delivered over time.
Genomics is also converging with social
media,as evidenced by the sharing of
health experiences and questions online.
One example of this is PatientsLikeMe.
com,a health data-sharing platform
including blog videos on topics such
as‘The future of the personal genome’
(7).Social media tools can also be used
for crowd-sourcing,which can provide
supplementary data in scientific and
medical research.
Improved computing power, imaging
capability, the use of wireless sensors
and the plethora of accessible digital
health information are all part of the
In a recent global survey of 750 industry
executives from the life sciences industry,
20% said that the advancement of
personalised medicine (including genomics
and proteomics) was helping to stimulate
innovation in the industry, while a further
36% agreed that cognitive computing was
a key factor (5).
Genomic Medecine’s
Role in Innovation

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conditions, 21 April 2014. Visit: http://
ghr.nlm.nih.gov/handbook/hgp/genome
5. Life Technologies, Ion AmpliSeq™
comprehensive cancer panel. Visit:
www.lifetechnologies.com/order/
catalog/product/4477685
6. The New York Genome Center and IBM
Watson Group announce collaboration
to advance genomic medicine, March
2014. Visit: www.nygenome.org/news/
in-the-media
7. Reuters, Gene company 23andme
launches in UK after US regulatory
hurdle, 2 December 2014. Visit: www.
reuters.com/article/2014/12/02/
us-health-genetics-britain-23andme-
iduskcn0jg0oy20141202
8. The future of the personal genome, The
Value of Openness by patientslikeme®
,
21 May 2012. Visit: http://blog.
patientslikeme.com/2012/05/21/the-
future-of-the-personal-genome
9. PHG Foundation, UK moratorium
on use of genetic tests by insurers
extended, January 2015. Visit: www.
phgfoundation.org/news/16536/?utm_
source=feedburner&utm_medium
=feed&utm_campaign=feed%3a+
phgfoundation_articles+%28articles+fro
m+the+phg+foundation+newsletter%29
10. EMA, European Medicines Agency
looks to stimulate better use of
genomic data and biomarkers in
medicines development and safety
monitoring, 4 August 2014. Visit:
www.ema.europa.eu/ema/index.
jsp?curl=pages/news_and_events/
news/2014/08/news_detail_002154.
jsp&mid=wc0b01ac058004d5c1
studies,and ultimately stimulate better
use of genomic data and biomarkers
in medicines development and safety
monitoring (9).
Becoming a Reality?
A four-year 100,000 Genomes Project,
initiated by Genomics England,aims
to help turn scientific discoveries about
DNA and its actions into a potentially
life-saving reality for patients through
targeted treatments (10).In early 2014,
11 genomics medicines centres across
England began collecting DNA samples,
with the project due to be completed in
2017.The NHS now has the unique ability
to link a person’s genome data with their
complete medical records,and then
replicate this at scale.
The primary beneficiaries of this project
will be patients with rare diseases or
cancer – but it has also been recognised
that there will significant economic
reward from creating a new industry
based on genomics,in which pharma
plays a pivotal role.
Industry Transformation
Genomic medicine can form the basis of
the development of innovative clinical
trial protocols,as well as the search for
a novel group of precision treatments
focusing on the prevention of disease or
alleviating symptoms.For this to happen,
senior executives of pharma companies
will need to capitalise on new advances
in science,cognitive computing,analytics
and drug discovery,and make genomic
medicine a key component of their
enterprise strategy.Securing a place
in the future genomic medicine
environment will be a key step in the
industry’s transformational journey.
References
1. Pai A, Koyama T and Lee L, The
evolving promise of genomic
medicine: How advanced technologies
are transforming healthcare and
life sciences, IBM Institute for
Business Value, June 2014. Visit:
www-935.ibm.com/services/us/gbs/
thoughtleadership/genomicmedicine
2. Lefever G, Pesanello M, Fraser H and
Taurman L, Fade or flourish? Rethinking
the role of life sciences companies
in the healthcare ecosystem, IBM
Institute for Business Value, August
2011. Visit: www-935.ibm.com/
services/us/gbs/thoughtleadership/ibv-
lifesciences-fade-flourish.html
3. IBM Institute for Business Value survey,
Innovation in the life sciences industry.
Due to be published mid-April 2015 –
contact the author for further details
4. US National Library of Medicine,
National Institutes of Health, What is
a genome? Genetics home reference:
Your guide to understanding genetic
About the author
Heather Fraser
has over 30 years’
experience in
the life sciences
and healthcare
sectors, working
across community
pharmacy, the pharma industry and in
consultancy. She is currently Global
Leader for healthcare and life sciences
in IBM’s Institute for Business Value,
where she develops strategies on
industry-related business issues.
Email: hfraser@uk.ibm.com
Clarification
Clarify the significance of
new ideas through a series
of deeper enquiries
Understanding
Gain a deeper understanding
of the meaning of relationships
and their implications
Awareness
Gain awareness of all
domain-relevant concepts and
individual relationships that
impact a researcher
Figure 1: Discovery and new ideas creation in the life sciences industry