Possible Solution for Managing the Worlds Personal Genetic Data - DNA Guide, Inc.

Navigating Genetic Data Regulation, Privacy and Ease of UseAlice Rathjen, President, Founderalice@dnaguide.comMethod for preparing and using personal and genetic profilesUS Patent: 7089498Presentation @ BIT World DNA Day and Genome Day, Dalian, China 2011DNA Guide, Inc. All rights reserved 2011

The Problem.. Inadequate Infrastructure Genetic Data Explosion Huge investment in Personalized Medicine Sequencing Technologies and Molecular Diagnostics INSURANCE INSURANCE INSURANCE Consumers/ Pharma // Health Patients Pharma Clinical Clinical Services R&D Trials Trials Government & NGO RegulationsThe amount of genetic data is about to explode. However, there’s currently inadequate infrastructure for leveraging the valueof genetic data in health care: current software is designed for researchers, there’s a shortage of genetically trained health careprofessionals and people fear their genetic data could be used against them. These issues need to be addressed forpersonalized medicine to succeed.

Anxiety and Fear of Genetic Data A T A T T G A C C GPersonal genetic information is highly sensitive data touching on the areas of identity, paternity, self worth, and privacy. Theproblem that really needs to be solved is how to cultivate a sense of trust between physicians and patients and how tostructure health information transfer in such a way that patients can participate in the management of their data as their bodiesbecome increasingly digital.

How Can Personalized Medicine Grow? C T G A Physician as Guide Patients Increasing With Cost Effective, Participation in Real Time Delivery Management of their of Personalized Genome and Medical Information InformationWith proper tools we can provide physicians and patients a sense of mastery and control over genetic and healthdatasets. This will help facilitate higher patient engagement and opt-in rates for participation in studies - which in turnwill speed up the process of discovery, approval and market adoption of personalized medicine.

Traditional Patient/Research Model • Patient Gets Sick – Provides Sample • Small Patient Sample Sizes • Written Consent? • Patient/ Data Separated • Data Quality Over Time? • Data Liability Over Time?In the current typical health information system a person gets sick, signs away their rights to their tissues and/orinformation, and receives no benefit in return. This model results in small, expensive, research studies and it acquiressignificant liabilities over time with regards to consent disputes and potential loss of anonymity. It also makestracking individuals, or improving data collection over long stretches of time, difficult.

Exponential/Disruptive Model • “Brown Bag” DNA Sample Submission (includes user account and password) • People Own Their Own Genome • Written Consent Evolves Into Real Time Consent • Dynamic Communication With Patient • Participatory Medicine DN Te A • Self-Organizing Genetic Research s Kit tIn the new model a person submits a DNA sample from a kit that contains a user account and password. Values fromtheir DNA are used to convert them into a node on the network. Thereafter, they can log on, setting up access for theirdoctor, or others, to their genetic or other personal data. Written consent evolves into real time consent. If their passwordis compromised, the person submits a new sample to re-establish ownership over the dataset. Self-organizing genomesdrive research. Third parties perform audits to prove authorized use.

Personalized Medicine Genome BrowserWhat you see here is aexample of all thechromosomes in a person’sgenome that a user would seewhen logged on.DNA Guide then adds layers tothis map so that a person’sgenetic data lies beneath thisimage. This image has acoordinate system associatedto it with full pan and zoomfunctionality, like a type ofGoogle earth for the cell.On top of this platform weprovide tools for managing theflow of information from thelab to any research or healthservices setting with the abilityto engage the patient at home.

Personalized Medicine Genome BrowserIn a typical use casescenario, a physician couldperform a search based on aterm such as “breast cancer”and immediately view onlythose markers out of amassive dataset that arerelevant for a particularpatient.A genome browser such asthis could help providegenetic counselors andhealth service providers atool to review geneticinformation with theirpatients.By placing the data in thisformat, we’ll be able to showstructural variants for fullgenomes. Current browsersshow just one chromosomeat a time and aren’t able to dothis. (Mitochondria)

At Zoom in Level Each Base Pair Is A Programmable Object At the zoom in level each base pair is a programmable object, allowing DNA Guide to automate many of the processes involved in interpreting genetic data. This programming interface can be opened up to allow third parties to develop a whole series of molecular diagnostic and recreational applications to be built that interact with the individuals DNA.

Government/NGO Regulation and Digital Human Rights DNA Test Results www.DNAguide.comDifferent government and NGO’s will have different regulations with regards to genetic data access. In addition,issues around privacy and the abuse of genetic data may give rise to various forms of digital human rights. Anyentity working with personal genetic data will no doubt face the scenario where different types of base pairs anddifferent combinations of base pairs will be regulated differently for different users. Hence, the need for softwarethat manages interpretation and access down to the base pair level will be critical for transmitting geneticinformation from the lab to the physician and patient consistent with regulations.

Three Points of Dynamic Regulation Category Rating Quality of Science (Graded) A,B,C,D,F (by Scientific Community) W = Withdrawn I = Incomplete Medical Utility (Five Star Rating) (by Health Care Providers/ Payors) (Movie Rating) Viewing Risk E = Everyone, (Genetic Counselors, Ethics) PG = Physician Guidance R = RestrictedThe genetic information sector could be dynamically regulated by a process where an interpretation could be submittedand receive a rating in three areas: quality of science, medical utility and viewing risk. Each category could be the domainexpertise of the entities indicated above by their providing rating standards which would then be applied to each geneticmarker involved in a test.

Genetic Information Marketplace Discovery Ecosystem Research Feeds Patients Feed Research Personalized Medicine INSURANCE INSURANCE INSURANCE Consumers/ Pharma // Health Patients Pharma Clinical Clinical Services R&D Trials Trials Government & NGO RegulationsWith a rating system for quality of science, medical utility and viewing risk, genetic interpretation will have a clearer path tomarket. For example, a health service provider or insurer could formulate policies such as delivering tests with a science scoreof A and medical utility rating of five stars with the proper level of counseling triggered the moment the patient accessed theirgenetic information.

Example of Genetic Information Flow PATIENT PHYSICIAN, LAB Seeks Health Services PATHOLOGIST, Process sample and results Submits DNA Sample GENETIC COUNSELOR Provide raw DNA data to Assess Patient database storage for Views interpretation of results interpretation from physician Interact with insurance to Participation in Clinical Trials determine eligibility Receives Drugs Info from Prescribe test Pharma Collect patient DNA sample Submit DNA sample to lab PHARMA/BIOTECH/R&D View lab information and INDUSTRY interpret results Provide sample collection kits Provide analysis and and information regarding recommendation to patient personalized medicine Prescribe course of action. Interface with physician andDNA Guide Interface with pharma patients in clinical trials regarding personalized Provide lab with new productsGenome Management medicine and servicesSoftware Information Flow Interact with pharma with Provide patient with retail clinical trial information outlet for personalized medicine products Health Services Payer Entities Require DNA tests for reimbursement of Rx and determine which genetic tests qualify for reimbursement

Mobile Platform Symbols For Ease of UseThe symbols below are an example of how we could convert SNPs information into a graph form to help explaingenetic variation. Using these symbols it’s possible to stack 1,000s of genomes on top of each other in a map and seevariation.Below we see how complex ranges of information across multiple locations could be converted to symbols tomake genetic information more easily understood by non-scientific audiences. For example, a red symbolindicates higher risk and green lower risk. The larger the dot – the more significant the association betweenhigh, normal or low risk. Low Magnitude High Magnitude Highest Risk Slightly Higher Risk Normal Lower Risk

High Risk, Low Risk Assessment Fast and AffordableHere’s an example of whatthe diagnostic results for ahigh risk genome couldlook likeBy using a simple symbolclassification, DNA Guideis able to provide a quickassessment for the entiregenome.More detailed informationcould be available byselecting the objects in themap to generate a report.

Converting the $1,000 Genome into the Two Minute GenomeHere’s an example of a low riskgenome result.Complex molecular diagnosticinformation can be delivered ina format that is fast andaffordable on a mobile device.DNA Guide’s software is ableto convert the $1,000 genomeinto the two minute genome –bringing personalizedmedicine to the point of care.

DNA Guide ToolkitDNA Guide’s solution has three core modules stemming from claims in the patent (US Patent: 7089498 ).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 Security Token DNA Compass DNA Body DNA Guide provides dynamic maps of entireDNA Guide uses values within the DNA DNA Guide’s DNA Body will provide genomes available on all mobile platforms. DNAsample to uniquely identify every dataset. expression data, medical records, and Guide’s Compass can perform spatial analysisThis token can serve as a dynamic or images to be linked to a map of the human across multiple layers of different types of geneticstatic IP address - allowing every body and to genomic location. data. Current browser solutions on theorganism to become a node on the marketplace are limited to single chromosomesnetwork. with one dimensional analysis.

DNA Guide Security TokenDNA Guide selects about two hundred values Raw DNA Valueswithin each DNA sample to uniquely identifyone in a trillion persons. This DNA tokenprovides the foundation for further securityand a mechanism for providing privacy overthe dataset.• Uniquely identify each dataset• Store and retrieve genetic data anonymously• Perform audits, merge data• Re-associate information throughout a person’s lifetime DNA Security Token• Have variations for different uses

Mapping the Human Genome With Geographic Information Systems (GIS)DNA Guide Novel Approach: (x,y,z)Physical (or biological) data with annotation information ismapped to point, line or polygon object(s) with coordinates to Point (alleles, SNPs, genes, Methylation, Expression Data eachenable the spatial query and analysis of information. as a separate layer in the map)• Data is optimized for spatial comparisons with ability to utilize raster to vector conversion techniques.• Re-project genetic data on the fly for comparison of different (direction/distance) alignments. Line (mRNA, siRNA, indels, translocations)• 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. (in) (out) http://en.wikipedia.org/wiki/Geographic_information_system• View Information in “Thematic Map” format http://en.wikipedia.org/wiki/Thematic_map Polygon (any Genetic Region)

Mapping From DNA, mRNA, to Proteins, to Pathways and BeyondUsing Mapping Software to Map the Genome DNA Guide genome navigation applications use Geographic Information Systems (GIS)GIS (Geographic Information Systems) 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 within the same layer or in relation to different layers. Each node in the map can have a 2 or 3D position and direction associated with it. In the case of genome data we treat chromosomes as continents, SNPs as if theyre 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. By using mapping coordinates, users will be able to move between layers of genetic information -From a technology standpoint we’ve redeployed all the way from DNA to MRNA to proteins, toexisting mapping software and swapped out the pathways to the function of physiology to bodysphere of the earth for the cell. systems.

DNA Body SlideThe following images weretaken from Google Bodyyet represent DNA Guide’splans to implementmapping software toinclude a representation ofthe human form linked togenetic data as part of oursolution.We anticipate users will beable to click on the body togenerate queries forinformation, with oureventually showing howtheir genes are expressedin their body.DNA Guide is workingtowards a future where aperson’s medicalinformation is linked to arepresentation of theirhuman form with theirelectronic medical recorduser account informationbeing derived from thevalues within their DNA.

Acknowledgements C T G Alice Rathjen Founder, CEO A alice@dnaguide.com William Kimmerly, Ph.D.DNA Guide, Inc. Chief Scientific Officerhttp://www.DNAguide.com Xavier Thomas Product Development Dir.info@dnaguide.com Saw Yu Wai Platform Architect Mark Boguski, MD. Ph.D, Advisor

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Possible Solution for Managing the Worlds Personal Genetic Data - DNA Guide, Inc.

by Alice Rathjen - DNA Guide

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