"The emergence of genomics and real-time screening is helping to transform the practice of medicine as we know it today. New technologies present improved ways to tackle health issues and what was once thought to be “untouchable” due to cost, timing or resources, is now achievable through genetic screenings and genome sequencing. During this session, we will explore: 1. The benefits of incorporating a genomics strategy early in lifeline 2. The Precision Medicine Initiative – how does this help? Does this encourage more people to get genetic screenings? 3. What’s involved in a genetic screening "

1. Precision Medicine
Integrating genomicsto enable better patient outcomes

2. 2 of 13
MT115: October 19 – 3:30 pm – 4:30 pm
Precision Medicine: Integrating genomics to enable better patient outcomes
The emergence of genomics and real-time screening is helping to transform the practice
of medicine as we know it today. New technologies present improved ways to tackle
health issues and what was once thought to be “untouchable” due to cost, timing or
resources, is now achievable through genetic screenings and genome sequencing.
During this session, we will explore:
• The Precision Medicine Initiative
Does this encourage more people to get genetic screenings?
• The benefits of incorporating a genomics strategy early in lifeline
• Demystifying the technology
• The Precision Medicine timeline
• The diagnostic odyssey

3. 3 of 13
Speakers
James Lowey
Chief Information Officer
Translational Genomics Research Institute (TGen)
James Lowey is the Chief Information Officer at the
Translational Genomics Research Institute (TGen). Mr.
Lowey provides the strategic vision and leadership for all
aspects related to Information Technology at TGen. This
includes working closely with Scientific and Administrative
leadership to ensure the right technology is in place at the
right time. He works closely in conjunction with
researchers in the application of computing to life-
sciences. To help facilitate this James and his team have
brought two supercomputer systems to TGen that have
placed in the top 100 most powerful supercomputers in
the world (www.top500.org).

4. 4 of 13
Speakers
Jennifer Girka
Healthcare Strategist – Precision Medicine
Dell EMC Healthcare and Life Sciences
Jennifer Girka is a healthcare strategist within Dell EMC’s
Healthcare & Life Sciences division. She is responsible for
providing strategic insight to help Dell EMC advance its
support of healthcare organizations, medical professionals
and patients through information-enabled healthcare.
She has spent more than 20 years helping advance the
healthcare industry with new opportunities and emerging
technology. She works closely with healthcare customers
and practitioners to bring them the right mix of technology
innovation and solutions that will help them navigate
through the ever-changing and increasingly complex
world of healthcare.

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Precision Medicine:
The What and the Why
• The PrecisionMedicine Initiative (PMI)
– From public and private partnerships to more informed patients, the momentum behind precision medicine
today is multifaceted.
• Who Benefits?
– Patients
– Clinicians
– Healthcare providers
– Researchers

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Information Technology in Life Sciences
Big Data
Data
Management
Innovation
Infrastructure
• Sequencer advances 4x data in 50% less time .5TB/device/day
• 4D molecular imaging produces 2TB/device/day
• IOT Data being produced
• Store, manage, share, ingest and move PBs of research & clinical data
• Need to reliably ‘snapshot’ pipelines with archive to tiered storage
• Rapid iteration of algorithms far outpace IT, requiring flexibility, agility
• Most applications do not fully leverage available infrastructure
• More Data Collection leads to more insight
• Workloads converging between local and cloud-based HPC / Big Data
• Advanced orchestration required to maximize throughput & efficiency

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Downstream Analytics
Sboner et. all. "The Cost of Sequencing: Higher Than You Think!" Genome Biology 2011, 12:125 and thanks to Intel f or the drawing

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Timeline of Precision Medicine Innovation

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What Does Success Look Like?
Fifty seven year old male
• Stage two pancreatic cancer
• Surgery attempted
• Moved to stage four
• Virginia Piper clinical trial
• 21 months later still cancer free!

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Center for Rare Childhood Disorders
The FDA defines as one that affects fewer than 200,000
Americans at any given time. Rare childhood disorders are
estimated to impact 1 in every 150 births.
• Mitochondrial disorders
• Drug repurposing
Shelby Valint
Nobody knew what was wrong with her.
Scientists sequenced her genome, and the analysis revealed
a problem in a gene which codes for an enzyme critical for
the production of dopamine, a brain chemical responsible for
movement, muscle control and balance.
What Does Success Look Like?

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The Diagnostic Odyssey
• Rare diseases are often misdiagnosed
or not diagnosed at all
• Tools are limited
• Orphan diseases
• Desperate to get a diagnosis
• Sequencing sheds light

12. Q&A

13. Let the transformation begin.