The document discusses the progress and future of genomic medicine. The cost of sequencing a human genome has declined drastically from $100 million to an expected cost of just pennies by 2020. This will enable more personalized care based on a patient's genomic profile. Genomic analysis is already improving diagnosis and treatment for various diseases like rare genetic disorders and cancer. In the future, genomic data combined with sensor data will generate huge amounts of healthcare data and further advance personalized medicine.

1. Genomic Medicine:
Personalized Care
for Just Pennies
— Dr. John Haughom

2. © 2014 Health Catalyst
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The Human Genome Project
The Human Genome Project
was one of the greatest
scientific endeavors in the
history of medicine.
Completed in April 2003, it
provided researchers the
ability to read the full genetic
blueprint for human beings.
In the future clinicians will be able to practice genomic
medicine and personalized care. It also has profound
implications for the future of analytics.
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Success of the Genome Project
Significant progress has been
made and the pace is ramping up.
The cost of sequencing a human
genome has fallen from about
$100 million in 2001 to
approximately $1,000 today.
By 2020, the cost is expected to
be just pennies. As costs drop,
advances in genomic research
are accelerating.
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Success of the Genome Project
Early genomic-based triumphs
are happening with rare inherited
diseases. These diseases afflict
more than 25 million Americans.
The plummeting cost of genomic
sequencing has allowed
scientists to discover the genomic
defects for more than 5,000
inherited diseases.
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Using Genomics to Diagnose and
Treat Disease
A study published in the
February 2014 edition of the
NEJM demonstrates that
analyzing fetal DNA in a
pregnant woman’s blood was
a more accurate and less
invasive way of screening for
Down syndrome and other
chromosomal disorders than
methods such as ultrasound
imaging and blood tests.
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Using Genomics to Diagnose and
Treat Disease
The analysis of genomes is
guiding treatment for various
types of cancer.
Many cancer types can be
categorized by genomic traits.
Treatment can be based on the
underlying genetic signature.
This approach offers patients the
most effective treatment with
minimal side effects.
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Personalized Medicine through
Genomics
Genomics is starting to be used to
improve the efficacy of medications
and how clinical care is delivered.
In the not-too-distant future,
physicians will tailor treatment for
many diseases based on an
individual patient’s genomic profile.
Progress will not be limited to
genomic-based diseases. Genes
are also impacted by our lifestyle,
habits, and environment.
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Personalized Medicine through
Genomics
In the future, personalized
medicine will allow clinicians to
tailor disease care and prediction
based on an individual patient’s
genetic profile.
Personalized medicine promises
to yield more effective diagnostic
measures and treatments with
fewer side effects leading to
healthier, longer lives and lower
healthcare costs.
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Personalized Medicine through
Genomics
Per a Pricewaterhouse
Coopers report, personalized
medicine is already
generating $286 billion per
year in revenues and is
growing 11% annually.
The economic impact of
personalized medicine
promises to explode over the
next few years.
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Sensor Devices Will Aid
Personalized-Medicine Trend
Advances in sensor and
mobile technologies, including
smartphones, will create an
opportunity to capture vast
amounts of information about
our lifestyles and habits.
Wearable devices will be able
to record physiologic data
such as temperature, heart
rate, blood pressure, blood
oxygenation, heart rhythm,
sleep patterns, and weight.
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The Impact on Healthcare
Analytics and Data
With this rapidly evolving
progress in genomics, the
implications for healthcare
analytics are profound.
The amount of data that has
been and will be produced by
sequencing, mapping, and
analyzing genomes will
comfortably propel healthcare
into the realm of big data.
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The Impact on Healthcare
Analytics and Data
Genomics will produce huge
volumes of data. Each human
genome is comprised of over 3
billion base pairs. This amounts
to 100,000 gigabytes of data.
Sequencing human genomes
would quickly add up to
hundreds of petabytes of data
(a petabyte is 1015 bytes of
digital information), and the
data created by analysis of
gene interactions multiplies
the data even more.
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13. Healthcare organizations must
master the art and science of
analyzing very large datasets.
Healthcare analytics will be
propelled into an higher realm.
As these trends unfold, one thing
is clear. Genomic-based medicine
offers tremendous promise and
power to revolutionize clinical
care, and it will exponentially
change healthcare analytics.
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Conclusion
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14. Link to original article for a more in-depth discussion.
Genomic Medicine: Personalized Care for Just Pennies
Discovering Patterns in the Data to Improve Patient Care (Free, on-demand webinar)
Dr. John Haughom, Senior Advisor
© 2014 Health Catalyst
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More about this topic
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Building a High-quality Cancer Care Delivery System
A success story from a large medical center
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15. – John Haughom, MD, Senior Advisor, Health Catalyst
© 2014 Health Catalyst
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16. Other Clinical Quality Improvement Resources
John Haughom, MD is an experienced healthcare executive with proven expertise in
technology-enabled innovation, developing results-oriented strategic plans, leading
multifaceted organization-wide change, and directing complex operations. He has a
strong record of turning vision into effective strategies and successfully implementing
initiatives resulting in value including higher quality, safer care at the lowest possible cost.
His broad knowledge of healthcare and emerging healthcare technologies is coupled with his
recognized leadership abilities, strong communication skills, and demonstrated ability to contribute to
organizational goals such as improved clinical outcomes, lower costs, improved access to care, and
increased profitability. After practicing for 15 years as an internist and gastroenterologist, Dr.
Haughom assumed a senior executive role with responsibilities for system-wide automation,
budgeting, customer support, database administration, healthcare delivery, information technology,
quality control, research, safety, and strategic planning. Dr. Haughom became President and CEO of
a firm focused on health care transformation through consulting, strategic planning, mentoring
inexperienced physician leaders, involvement in regional and national reform movements,
membership on boards of leading edge organizations committed to improving the value of
healthcare, and partnership with other like-minded organizations with similar aspirations and goals.
As Senior Vice President of Clinical Quality and Patient Safety for the premiere health care system in
the Northwest spanning three states (Oregon, Washington and Alaska), Dr. Haughom developed and
implemented a system-wide quality improvement strategy, comprehensive patient safety plan, and
comprehensive system-wide information technology strategy.
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