This invention is generally related to electronic medical records systems. More specifically, this present invention relates to the collection, storage, and processing of private genetic and medical information, utilizing various systems, including portable data storage devices to store personal data, downloading research queries using a computer with network access, running queries against the personal data on a computer, and providing patients the opportunity to anonymously share query results over a peer-to-peer network. The invention may be used for secure private testing to discover whether individuals have inherited genomic variations that cause or increase the risk of developing disease, and may be utilized to conduct research while maintaining the privacy of each individual and their data.
Governments, corporations, universities, and other institutions, are increasing interested in utilizing genetic information and electronic medical records in order to perform research into the causes of disease and to search for cures. Simultaneously, individuals are increasingly concerned about maintaining the privacy and security of their personal medical and genetic information. One of the most significant challenges facing the adoption of electronic medical records and integrating personal genetic information in such systems is the difficulty of keeping these records private. The task becomes even more complex with the additional desire of wanting to provide access to personal data in order to conduct research.
This dilemma is becoming more problematic as the cost of genomic testing and sequencing falls and as creating genomic records for individuals becomes more widely available. Many individuals are interested in learning whether they have inherited specific diseases but are legitimately concerned and especially vulnerable to discrimination if, for example, employers and insurers were to receive their private genomic information. Accordingly, as recognized by the inventor, there is a need for an apparatus, system, and method for the secure acquisition, storage, and utilization of personal genetic and medical information. The method described herein provides a unique solution to the conflict between privacy and the desire to use personal genomic and medical information in order to conduct research, perform medical evaluations, and to make personal health, lifestyle, and other important personal decisions based on one's own private genomic information.
While technology has been developed to provide the capability of storing medical records electronically, the utilization of electronic medical records and the sharing of this data for research purposes has not been as widespread as hoped due to the numerous obstacles faced in ensuring the privacy of data and the understandable reluctance of patients to share their data. Therefore, it would be an important advancement in the state of the art to provide an apparatus, system, and method for the collection, storage, and utilization of personal genomic and medical information for performing queries to diagnose disease and conduct research. It is against this background that the various embodiments of the present invention were developed.
Originally, medical records were stored utilizing paper record keeping systems, and often still are. While, electronic medical record systems have been developed by numerous companies and adopted by various institutions, the problem remains that current medical information collection, storage, and sharing methods have many inherent problems that make their utilization and adoption problematic. In addition, because new genomic tests that can predict the susceptibility of individuals to future disease are continually being developed, there is an even greater risk of discrimination to individual patients if their personal genomic and medical information were to be shared either directly or indirectly with current or future employers, insurers, and others.
Several types of solutions have been proposed that are designed to try to ensure patient anonymity or provide patients with some level of control over who may get access to their personal medical information. U.S. Pat. No. 6,732,113 to Ober et al. (2004) discloses a method of creating a central database to store medical information along with a complex method of creating unique aliases associated with each individual using a second data store. In the field of genetic testing, U.S. Pat. No. 7,089,498 to Rathjen et al. (2006) discloses a method for electronically storing the genetic information of individuals in a central database and providing individuals who submitted their genetic material for testing the ability to view their genetic information via a network connection after authentication of the data requester's identity as the original data owner.
U.S. Pat. No. 6,988,075 to Hacker (2006) discloses a system of centrally storing patients' medical records electronically and giving patients the ability to access their medical records online and further proposes giving patients the ability to authorize others to access or download their medical records or certain portions of it. Similar to Hacker, but specific to genomic data, U.S. Pat. No. 6,640,211 to Holden (2003) discloses a genetic banking system where the genomic data of individuals is stored on a central database and gives individuals the ability to authorize and pre-authorize selected trusted third parties to have access to their private genetic information and to also authorize and pre-authorize tests to be performed by the banking facility on behalf of third parties.
These methods differ significantly from the currently described invention because third parties are never given access to the private data. They are only given access to anonymous test results. Significantly, the currently described method does not authorize third parties to perform tests using the personal information. Instead, individuals perform all tests on their own computers and only share test results if they choose to do so. While the previously proposed methods try to achieve the same goals of offering patient privacy and patient control over access to private data, the previous methods share a number of disadvantages including the following:
While technology has been developed and proposed to provide the capability of storing medical information using portable means or portable devices, their utilization has been uneven and their designs have had significant limitations largely due to the fact that they were never originally designed for use in private disease diagnosis or for conducting research. Originally, the first portable medical information storage devices were solutions such as military dog-tags or bracelets used by individuals that indicate that the wearer has a specific medical condition or allergy. U.S. Pat. No. 6,747,561 to Reeves (2004) discloses a device worn on the body, preferably in the form of jewelry, a medallion or watch that stores an individual's medical history. Reeves' proposed solution is primarily focused on offering an improvement over the original dog-tag concept. Other similar solutions have been proposed (Eberhardt U.S. Pat. No. 5,659,741 and Whalen U.S. Pat. No. 5,197,763). Both utilize credit card sized medical cards designed to be kept by individuals in their wallets or on their person. The primary purpose of these previously proposed solutions is to provide critical medical information in the case of a medical emergency; for example, when the wearer is unconscious or otherwise unable to provide critical information when emergency medical treatment is required.
Although the previously proposed solutions share the concept of portable storage of personal medical information, they fail to teach the invention herein described of providing a secure way for individuals to conduct private genetic testing, running queries against medical data stored on portable storage devices, or describe how individuals can securely share query results over a peer-to-peer network. Reeves mentions that his proposed device could be linked via the Internet to a central website or database, but only for the purposes of augmenting the storage capacity of the portable device or for providing international access to a person's medical record information. All of the cited prior portable storage methods suffer critical privacy and security disadvantages because their primary focus is on trying to provide a solution to the medical emergency problem. Some of the specific disadvantages include:
The invention disclosed describes a novel new method, system, and approach for conducting private disease diagnosis and conducting research. The method includes the storage of private genetic and medical information on portable digital storage devices to store personal genomic and medical information, allowing individuals to download and run queries privately against their genomic information, and enabling individuals to participate in researcher initiated queries over a peer-to-peer network.
It is an object of this invention to provide individuals with greater control over their personal genomic and medical information. The method provides individuals with access to genetic queries that they can download and run by themselves in private, and it facilitates the sharing of research queries and query results between researchers and individuals, while allowing each individual to maintain control over their personal data and choice in deciding whether to participate in queries. The features, utilities and advantages of the various embodiments of the invention will be apparent from the following more particular description of embodiments of the invention as illustrated in the accompanying drawings.
In the drawings, each step of the proposed apparatus, systems, and methods are shown.
The present invention is a modular system that utilizes several core components in an integrated fashion. This invention disclosed herein provides for two improved methods to utilize personal genomic and electronic medical data while enhancing security and ensuring the privacy of each individual's genomic and medical information.
The first significant embodiment is that individual patients can use their own genetic information to run private queries in order to find out whether they have inherited specific genomic profiles that are known to cause, correspond to, or forecast the development specific diseases. Each individual person can then decide for themselves how they want to use the information and whether they want to share the information. For example, a person who has inherited a genomic profile that makes them especially susceptible to heart disease may want take early preventative actions through lifestyle modification and/or early pharmaceutical and/or other medical intervention in order to delay its onset or avoid getting the disease entirely.
The first embodiment is the “personal query method” as illustrated in
The repository of genetic queries is accessed by generating a URL link with its address and fields containing the information identifying the content portion and the genetic test. The generated URL link is communicated to an application used for identifying a test and downloading the test. As shown in
The specific improvements offered and problems addressed by this method are that the personal genomic and medical information never needs to be sent over the network and does not need to be stored at a central location, database, or server. With the personal query method, only the genetic queries are located at a central location. It is only the tests that are downloaded to each individual's computer, in order to perform and run the query against the genetic data held on the portable storage unit or computer. The actual personal genetic and medical information always remain on each individual's portable storage unit or personal computer.
An additional significant embodiment that can be assembled by using the components of this method is the creation of online search engine for use by genetic researchers and others. This additional embodiment utilizes the “peer-to-peer researcher query method”. In addition to individuals downloading tests and performing personal queries based on their own genomic data, another valuable component of this infrastructure and method is the ability to run queries against this data which can be aggregated for research and other purposes.
In the peer-to-peer researcher query method, when each individual receives their portable genomic and medical record storage device, they will also receive imbedded software that will to enable them to join and participate in the peer-to-peer genomic network. As membership to the genomic peer-to-peer network grows, and as individual network members become more comfortable with participating in queries, sharing query results, or agree to automate their participation, the network can perform the function of and become an online search engine for the human genome.
As shown in
As shown in
As shown, the peer-to-peer query method initially defaults at the highest level of security. The highest level requires that the data storage device and network are never connected to a computer simultaneously. However, network participants are provided the ability to adjust their security settings lower, so that both the data storage device and network connection can be simultaneously connected to their computer and to even automate their participation. Security of personal data is enhanced by providing an imbedded software algorithm in the portable storage device that when connected to a computer, by default automatically checks to see whether the computer is connected to a network. At its highest setting, if a network connection is detected, it prompts the user to disconnect their network connection. It also provides the additional security steps of disconnecting the network connection if the user disregards the automated prompt, and also locks the data stored in the storage unit until the network connection is disconnected.
This novel method allows research to be performed while maintaining the privacy of each individual. In the decentralized peer-to-peer network, all peers act as equals, merging the roles of clients and server. Peers are responsible for hosting available resources and for making their shareable resources available to peers who request it. This method results in and maintains the capability of enhancing security and privacy by having the unique capacity of running queries even while the private genetic and medical information remains disconnected from the network.
Using this method, a researcher can create a query to be run against a specific population of members and to also run a query against control populations. For example, a researcher may want to find out if a particular gene contributes to obesity. The researcher would formulate a query looking for the presence of the specific suspect gene in a cohort of network members above a certain height/weight ratio. The height and weight information is stored on the portable storage unit, collected from medical records or via health information questionnaires submitted by clients when they submit their genetic material for sequencing. Individuals who agreed to participate in the obesity query would download and run the query on their own computers with the results merely answering whether they fit the search criteria and whether the gene was present or not. The query results would be aggregated over the peer-to-peer network and the researcher would receive the summary data from both the cohort of obese participants and the non-obese control group. An example of a successful query outcome would be having the researcher receiving aggregate data showing that 80% of the obese population, made up of 9,000 individuals, had the specific genomic profile that the researcher was looking for, while 90% of non-obese individuals, who numbered 15,000 participants, did not carry the genetic profile.
Because the invention described herein was designed from the start to give individuals greater control, including physical control, over their personal genomic and medical data and to provide a secure way to run private queries and share query results, it has many improvements and innovations over prior art which, in part, include:
Number | Date | Country | |
---|---|---|---|
60908296 | Mar 2007 | US |