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

Editor's Notes

1. DNA Guide is a California based start-up – focusing on the security and visualization of genetic data on mobile platforms - the idea being other entities would create genetic data and provide the interpretation for it and we help distribute it. Today I would like to propose a possible solution for managing the worlds personal genetic data – one that may be able to help us all navigate the areas of genetic regulation, privacy and ease of use.
2. The amount of genetic data is about to explode. However, there’s currently inadequate infrastructure for leveraging the value of genetic data in health care: current software is designed for researchers, there’s a shortage of genetically trained health care professionals and people fear their genetic data could be used against them. These issues need to be addressed for personalized medicine to succeed.
3. Personal genetic information is highly sensitive data touching on the areas of identity, paternity, self worth, and privacy. The problem that really needs to solved is how to cultivate a sense of trust between physicians and patients and how to structure information transfer in such a way that patients can participate in the management of their health data as their bodies become increasingly digital.
4. With proper tools we can provide physicians and patients a sense of mastery and control over genetic and health datasets. This will help facilitate higher patient engagement and opt-in rates for participation in studies - which in turn will speed up the process of discovery, approval and market adoption.
5. In the current typical health information system a person gets sick, signs away their rights to their tissues and/or information and receives no benefit in return. This model results in small, expensive, research studies and acquires significant liabilities over time with regards to consent disputes and potential loss of anonymity. It’s also difficult tracking individuals or improving data collection over long stretches of time.
6. In the new model a person submits a DNA sample kit that contains a user account and password which in turn provides the foundation for their electronic medical record. They long on, set up access for their doctor, or other entity to their genome and over time /or other personal information. Written consent evolves into real time consent. Ideally people would have the option to only do business with those entities that agree to third party audits to prove authorized use. If their password is compromised – the person submits a new sample to re-establish ownership over the dataset. T
7. What you see here is a example of all the chromosomes in a persons genome that a user would see when logged on. DNA Guide then adds layers to this map so that a person sequence and/or SNP information lies beneath this image that has a coordinate system associated to it with the full pan and zoom of a type of Google earth for the cell. On top of this platform we then provide tools for managing the flow of information from the lab, to any health services environment, ability to engage physician patient or consumer at home.
8. At the zoom in level each base pair is a programmable object – allowing DNA Guide to automate many of the processes involved in the interpretation of genetic data. DNA Guide 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 as 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 as well as apply organizational
9. Different 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. Any entity working with personal genetic data will no doubt face the scenario where different types of base pairs and different combinations of base pairs will be regulated differently for different users. Hence, the need for software that manages 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 regulations.
10. One way of regulating the genetic information sector is for there to be a process where a commercial interpretation could be submitted and receive an identifier along with a rating in three areas: quality of science, medical utility and viewing risk. Each category could be the domain expertise of the entities indicated above with their providing a rating which would then be applied to each genetic marker involved in the test.
11. By applying a rating system for quality of science, medical utility and viewing risk – personal genetic data will be able to enter the market place with the various players able to monetize and while refining the deployment of personalized medicine. For example, a health service provider would formulate policies such as delivering tests with a science score of A and medical utility rating of 5 stars or higher and have the application built such that the proper level of patient counseling was triggered the moment the patient went to access their genetic information.
12. This diagram here outlines the needs regarding the flow of genetic information between patient, payers, the lab, and any research and health services setting.
13. The symbols above are an example of how we could convert SNPs information into a graph form to help explain genetic variation. Using these symbols it’s possible to stack 1,000s of genomes on top of each other and detect variation. Here we see how complex ranges of information across multiple locations could be placed into a format that would make genetic informaiton available to non-scientific audiences.
14. Here we did a query on breast cancer and are showing some of his higher risk markers. We’re looking for funding to scale this application to include an entire genome. By placing the data in this format we’ll be able to show insertions, deletions, copy number variants as well as incorporate gene expression data into a single map. Current browsers show just one chromosome at a time and aren’t able to do this.
15. Here we did a query on breast cancer and are showing some of his higher risk markers. We’re looking for funding to scale this application to include an entire genome. By placing the data in this format we’ll be able to show insertions, deletions, copy number variants as well as incorporate gene expression data into a single map. Current browsers show just one chromosome at a time and aren’t able to do this.
16. This slide explains some of the benefits of using geographic information systems technology on a genetic dataset. Genetic markers are converted into a point, line or polygon that can be spatially analyzed in relation to each other.
17. What DNA Guide has done is swap out the earth for the cell. By using mapping coordinates - users will be able to move between layers of genetic information - all the way from DNA to MRNA to proteins, to pathways to the function of physiology to body systems. The current bioinformatics tools aren’t able to do this.
18. Special thanks to Saw Yu Wai for her work on getting the full extents of the genome working on the various mobile platforms for us and the rest of DNA Guide’s team.