Navigating Genetic Data Regulation, Privacy and Ease of Use
Method for preparing and using personal and genetic profiles
The volume of personalized genetic data is
exploding and there currently is no solution for
secure and easy access to this information.
Both the costs of personalized medicine and
its rate of adoption have been negatively
impacted by the absence of an intuitive and
scalable personalized bioinformatics
DNA Guide proposes opening up DNA navigation
to a whole new audience by providing:
SECURITY - DNA Guide uses values within the
DNA sample to uniquely identify each dataset and
administer security over the data.
VISUALIZATION – DNA Guide leverages
Geographic Information Systems Technology (GIS
mapping software) to link genetic data to a 2D or
3D representation of the genome, cell, or human
The New Patient
Personal genetic data is being incorporated into our health care services.
While most people agree individuals have a right to own their genetic data, a controversy exists over the
quality of the information as well as who’s authorized to perform and monetize genetic testing services.
FDA Regulation of Genetic Information
In response, the FDA has stepped in. Different types of base pairs and different combinations of base pairs will likely be regulated
differently. Hence, software tools that for the management of interpretation and access down to the base pair level will be critical
for transmitting genetic information from the lab to the physician and patient consistent with FDA regulations.
Anxiety and Fear of Genetic Data
Personal genetic information is highly sensitive data touching on the areas of identity, paternity, self worth, privacy and control.
The question we really need to solve is how to cultivate a sense of trust between physicians and patients and how to structure
information transfer in such a way that patients have control of their personal biological data as their bodies become increasingly digital.
How Can Genetic Data Grow?
Physician as Guide
With Cost Effective,
Real Time Delivery
Management of their
Genome and Medical
Tools are needed to provide physicians and patients a sense of mastery and control over genetic datasets -
to help facilitate a higher patient opt-in rate for participation in studies which in turn will speed up the process
of discovery, approval and market adoption
The Solution …
Genome Management Software
By providing tools for controlling
interpretation and access down
to the base pair level
Cultivate Trust, Remove Fear
By providing a mechanism to establish
security and privacy of the data
Grow Personalized Medicine
By providing a tool for physician and
patient education and engagement.
DNA Guide Toolkit
Token DNA Compass DNA Body
DNA Guide uses values within the DNA
sample to uniquely identify every dataset.
This token can serve as a dynamic or static
IP address - allowing every organism to
become a node on the network.
DNA Guide provides dynamic maps of entire genomes
available on all mobile platforms. DNA Guide’s
Compass can perform spatial analysis across multiple
layers of different types of genetic data. Current
browser solutions on the marketplace are limited to
single chromosome with one dimensional analysis.
DNA Guide’s DNA Body will provide expression
data, medical records, images to be linked to
map of the human body and to genomic location.
DNA Guide’s solution has three core module’s: a security component and map linking genetic data to 2d and
3d representation of the cell or body. The total solution offers genetic data interoperability for all users
involved in personalized medicine.
DNA Guide Security Token
DNA Guide selects about two hundred values
within each DNA sample to uniquely identify
one in a trillion persons. This DNA token
provides the foundation for further security
and a mechanism for providing privacy over
• Uniquely identify each dataset
• Store and retrieve genetic data without text information
• Perform audits, merge data
• Re-associate information throughout a persons lifetime
• Have variations for different uses
Raw DNA Values
DNA Security Token
Mapping From DNA, mRNA, to
Proteins, to Pathways and Beyond
Using Mapping Software to Map the Genome
GIS (Geographic Information Systems)
DNA Guide genome navigation applications use
Geographic Information Systems (GIS)
technology. The graphic objects have “topology”
which allows symbols from different layers in the map
(i.e. genes, SNPs, insertions, deletions, copy number
variations, gene expression data) to know where they
are in relation to each other. Objects can be queried
based on a buffer, overlap or whether they contain or
are contained by other objects within the same layer
or in relation to different layers.
Each node in the map can have a 3D position and
direction associated with it, in addition to being an
intelligent programmable object. In the case of
genome data we treat chromosomes as continents,
SNPs as if they're towns on a map, and genes can be
treated like a State (a polygon), highways (a line) or
cities (a point) depending on how we want to study
the information. The standard GIS data output is a
thematic map, an icon-driven format well suited for
From a technology standpoint we’ve redeployed
existing mapping software and swapped out the
sphere of the earth for the cell.
Above is a standard geographic information systems template that allows for query based on attribute or spatial
information across multiple layers of information. In the next few slides we’ll cover spatial analysis techniques and
then show what a streamline version genome map for personalized medicine could look like.
Mapping the Human Genome With
Geographic Information Systems (GIS)
DNA Guide Novel Approach:
Physical (or biological) data with annotation information is
mapped to point, line or polygon object(s) with coordinates to
enable the spatial query and analysis of Information
Line (mRNA, siRNA, indels,
Point (alleles, SNPs, genes,
Methylation, Expression Data each
as a separate layer in the map)
• Data is optimize for spatial comparisons with ability to utilize raster
to vector conversions techniques.
• Re-project genetic data on the fly for comparison of different
• Find the “Needle in the Haystack” (layers optimized by spatial
• Leverage existing mapping tools such as buffer, cluster and
network topology analysis for discovery.
• View Information in “Thematic Map” format
Polygon (any Genetic Region derived
from above – polygons has more spatial
analysis capabilities than line
At Zoom in Level Each Base Pair Is A
By turning each DNA sequence into a
programmable graphic object we’re able to
manage interpretation and access down to
the base pair level (trigger counseling at
the moment information is accessed). We
can open up the application programming
interface for a whole series of molecular
diagnostics and recreational applications
to be built that interact with the individuals
Show Genetic Variation or Change Across Multiple Layers of Genomes
Examples of Thematic
Low Magnitude High Magnitude
Convey Complex Ranges of Information Across Multiple Locations
Deployment as Physician and Patient
Personalized Medicine Genome Browser
Turning the $1000 genome into
the two minute genome
Imagine a woman goes in for her
yearly exam. Her healthcare
provider already has a basic
SNP dataset for her.
She has no family history
available but is worried about a
possible lump in breast.
Together she and her doctor
could review her genetic risk like
Let’s take a look at your genome.
Here’s your chromosomes, one
set on the left the other on the
I’ll do a query on breast cancer
View of “High Risk” Genome
Here’s your results…
Red dots indicate possible risk
markers and the larger the dot –
the higher the risk association.
It turns out you have some high
risk markers for breast cancer.
The good news is I didn’t feel
anything unusual but since we
know there a risk we’ll want to
run some additional tests to
make sure we don’t miss
Given your genetic risk it is
important that you be sure to do
breast exams yourself and come
in as soon as you detect any
View of “Low Risk” Genome
The physicians was able to make
a “quick call” using a top level
genome visualization tool
because he knows a low risk
genome for breast cancer looks
more like this image (one with
green and yellow dots, not
orange and red).
Although the view provided
lacked detail – it was still
In some cases complex
information can be delivered in
a format that is fast and
DNA Guide’s software allows
each of the markers the doctor
viewed to be clicked on for
additional information. Groups of
markers could be also be
selected in mass to request a
more expensive summary
Map of DNA Body
The following images was
taken from Google Body yet
represents DNA Guide’s -
plans to implement GIS
mapping software to include
a representation of the
human form linked to genetic
data as part of our solution.
We anticipate users will be
able to click on the body to
generate queries for
information with our
eventually showing how their
genes are expressed in their
DNA Guide is laying the
foundation for a future where
a persons medical
information is linked to a
representation of their
human for with their
electronic medical record
user account information
being derived from the
values within their DNA.
By providing tools for
controlling interpretation and
access down to the base pair
By providing a mechanism
to establish security and
privacy of the data
By providing a tool for
physician and patient
education and engagement.
Creating The Foundation for the Biological Network
The Future of Medicine
DNA Guide, Inc.
Deborah Kessler, CEO
Alice Rathjen, President, Founder
William Kimmerly, Ph.D. CSO
Xavier Thomas, Product Director
Saw Yu Wai, Software Architect
Advisor: Mark S. Boguski, M.D., Ph.D.
Center for Biomedical Informatics, Harvard Medical School
DNA Guide, Inc. http://www.dnaguide.com
Primary Entry Contact: Alice Rathjen email@example.com
March 15, 2011