DNA Laboratory Informatics for Personalized Medicine
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INTRODUCTION
A revolution is underway in life-sciences labs around the world.
New insights into human health and disease pathologies are
gleaned every day as scientists decipher more of the genome.
These discoveries are moving up the value chain from basic
research through to patient care, confronting laboratories with
both the opportunities and challenges of the genomics
revolution.
Many biologists preparing to embrace this leading-edge science
are still using rudimentary tools, such as log books, spreadsheets
or basic laboratory information management system (LIMS) in
their day-to-day work. Clinical labs will need to adopt laboratory
automation to manage every system and task, from sample
acquisition to reporting, billing and audit management, in ways
that are new and evolving. Labs will need to:
• Prepare to handle more complex test requests and
higher sequencing volumes while meeting doctor and
patient expectations for fast turnaround times.
• Carefully manage every step of sample processing to
reduce the risk of errors and omissions that can nullify
tests, threaten regulatory standing, and expose labs to
legal liability.
• Anticipate complexity, allowing new types of tests to be
adopted as they emerge.
• Stay nimble, so the lab can adapt to rapidly evolving
applied science, business and regulatory environments
without needing to reengage system vendors at every
turn.
• Adapt to shocks caused by disruptive discoveries that
require a redesign of laboratory processes to
CONTENTS
Introduction ................................................. 1
Paving the Way to Personalized Medicine .. 2
Preparing the Lab for New Challenges ....... 3
Establishing Control over Sample
Processing .................................................. 4
The Only Constant is Change ..................... 6
Reliably Meeting Expectations .................... 9
Realizing the Promise ............................... 10
The Future-Proof Lab
Understanding of the human
genome is progressing rapidly but
still has far to go, making it
impossible to predict clinical
applications beyond a few years.
Revolutionary insights from areas
like epigenetics and work
currently underway on variations
in tumor DNA at the cellular level
could emerge and upturn
established clinical practice with
radical new workflows, skill-sets,
and even equipment. Labs that
embrace the reality of these
unknown unknowns in their
culture and planning will have a
significant advantage weathering
this revolution.
