DNA Guide, Inc. - Tech Summary
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DNA Guide addresses the barriers of genetic data regulation, security, and accessibility through a novel GIS-based solution for visualizing genomes on mobile platforms. Their approach establishes a framework for secure data management and patient engagement while facilitating the adoption of personalized medicine. The project aims to provide physicians and patients with tools for effective navigation of genetic data, fostering trust and removing fears surrounding personal genetic information.
DNA Guide, Inc. - Tech Summary
- 1. 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.
- 2. 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
- 3. 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.
- 4. 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.
- 5. Anxiety and Fear of Genetic Data TA T G C T A C G A 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.
- 6. T G C A 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
- 7. 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
- 8. 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.
- 9. 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
- 10. 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.
- 11. 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.
- 12. 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)
- 13. 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.
- 14. 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
- 15. 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.
- 16. 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.
- 17. 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.
- 18. 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.
- 19. 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
- 20. 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