ABSTRACT

The solution addresses the three key barriers to growth for the genetic information marketplace:

genetic data regulation, genetic data security and genetic data and information format that makes it

assessable to wider audiences.

DNA Guide’s novel solution leverages geographic information systems (GIS) technology to distribute dynamic

maps of entire genomes on mobile platforms. Values within each DNA sample are used for administering

security across the datasets. The total solution offers a mechanism to facilitate the exchange of genetic

information from the lab to the health services setting, with the ability to engage the patient as well. Links to

multiple working versions of the software for both web based and mobile platforms are available upon

request.

DNA Guide

Navigating Genetic Data Regulation, Privacy and Ease of Use

DNA Guide, Inc. http://www.dnaguide.com Alice Rathjen, President, Founder

alice@dnaguide.com

© 2011 DNA Guide, Inc. All rights reserved all content in this presentation.

DNA Guide…… 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

infrastructure.

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

body

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

www.DNAguide.com

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

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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.

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How Can Genetic Data Grow?

Physician as Guide

With Cost Effective,

Real Time Delivery

of Personalized

Information

Patients Increasing

Participation in

Management of their

Genome and Medical

Information

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

Navigate Regulation

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.

Physician

Patient

Enable Engagement

Remove Fear

Navigate Regulation

DNA Guide Toolkit

DNA Security

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

the dataset.

• 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

mobile platforms.

From a technology standpoint we’ve redeployed

existing mapping software and swapped out the

sphere of the earth for the cell.

DNA Compass

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,

translocations)

(x,y,z)

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

alignments.

• Find the “Needle in the Haystack” (layers optimized by spatial

query).

• Leverage existing mapping tools such as buffer, cluster and

network topology analysis for discovery.

http://en.wikipedia.org/wiki/Geographic_information_system

• View Information in “Thematic Map” format

http://en.wikipedia.org/wiki/Thematic_map

(direction/distance)

Polygon (any Genetic Region derived

from above – polygons has more spatial

analysis capabilities than line

segments)

(in) (out)

At Zoom in Level Each Base Pair Is A Programmable Object

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

DNA.

Show Genetic Variation or Change Across Multiple Layers of Genomes

Examples of Thematic Mapping Symbols

Highest Risk

Slightly Higher

Risk

Normal

Lower Risk

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

this.

Physician:

Let’s take a look at your genome.

Here’s your chromosomes, one

set on the left the other on the

right.

I’ll do a query on breast cancer

risk.

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

anything.

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

changes.

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

informative.

In some cases complex

molecular diagnostic

information can be delivered in

a format that is fast and

affordable.

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

analysis.

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

body.

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.

Navigate Regulation

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.

Physician

Patient

Creating The Foundation for the Biological Network

The Future of Medicine

Contributors/Team

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 alice@dnaguide.com

March 15, 2011