Personalized Medicine: The
Future is Almost Here
Genome Sequencing |Personalized Medicine | Transforming Health Care
It’s been more than a decade since the human
genome was first sequenced.
Since then, we have been on the journey of
applying this profound new discovery to create
personalized medicine and advance human
The Rapid Pace of Genome
• Two significant triumphs along
this human genome journey:
– Using genomic data to better
understand diseases; and
– Achieving low-cost genome
• Each of these accomplishments
has been a stepping stone into the
exciting new era that is dawning
now: where genomic information
is becoming integrated into
Using Genomic Data to Better
Let’s take a look back at the early days of using genomic data
to connect the dots between genetic mutations and disease.
• From 1997-2004, I was part of the leadership team at
deCODE, the Icelandic genomic company, which was
building the world’s most productive human genomics
• The company developed a database of tens of thousands
of individuals who participated in genetic studies, including
the largest database of genomes to this day.
• deCODE’s genomic engine successfully identified the
genetic variations associated with human disease, resulting
in dozens of groundbreaking discoveries that were
published in major, peer-reviewed journals.
Using Genomic Data to Better
• The legacy of deCODE was the creation of an industrialized
platform capable of massive storage and analysis
capabilities enabling researchers to crunch genomic data
and gain insights about genetic variants associated with
many common diseases.
• deCODE’s premise was that once the genetics of disease
was better understood, that information could be used to
create new ways to diagnose, treat and prevent disease.
• When I left deCODE in 2004, there were still barriers to
overcome before this genomic information could be widely
applied to the level of an individual patient. Chief among
them was that the cost of genome sequencing was still
Low-Cost Genome Sequencing
• Back in 2004, the cost to sequence a single human genome
was hundreds of thousands of dollars.
• Today that cost is around a thousand dollars for a whole
• DNA sequencing costs continue to fall, as speed and
• We are rapidly approaching a tipping point where, as the
sequencing of human genomes becomes more economical,
its adoption in the medical community becomes more
widespread and genomic data can become more routine in
This is why personalized medicine is becoming a reality.
Sequencing in Medical Care
• The steep drop in the costs of sequencing, combined with the
explosion of research on gene variants and disease, mean genome
sequencing will soon become routine in medical care.
• Soon a patient sample can be taken to perform a genome
sequencing to analyze the genetic characteristics of a patient to
determine ways a disease can be prevented or, if they are sick,
which treatments might work best for their disease.
• The body of genomic knowledge and the large databank of human
genomes built by pioneers like deCODE enable genome sequencing
to have predictive power for individual patients.
• As more human genomes are sequenced and more genetic variants
are associated with disease, personalized medicine will become an
essential part of medical care.
• Major medical centers in the U.S., Europe and Asia are actively beginning to install
DNA sequencers and supercomputers to integrate sequencing into medical care.
• These centers are taking steps toward the routine sequencing of every patient’s
genome to define the ideal treatment based on a patient’s genes.
• Evidence of this adoption of genome sequencing by medical centers appeared in
an article in The New York Times in April 2013 citing that:
– Medical centers in New York City are spending more than $1 billion on new
genomic research centers;
– Several U.S. hospitals are undertaking systematic genome sequencing in patients;
– Mount Sinai Medical Center has a program in which 24,000 patients participate in a
biobank to include their DNA sequence and research over their lifetimes;
– Memorial Sloan-Kettering Cancer Center sequenced 16,000 tumors from cancer
patients in 2012; and
– Phoenix Children’s Hospital opened a new institute in December 2012 to
sequence the genomes of 30 percent of their childhood cancer patients.
Genome sequencing will soon become part of
the nucleus of medical care. This will herald a
new era in personalized medicine
revolutionizing healthcare as we know it and
transforming our lives.
When do you think genome sequencing will
become a part of the medical decisions in your