Patent Application
20170329915
The invention generally relates to a web page template for displaying personal genetic and other medical and physiological information on a web page.
Technological advances have made individual genetic information increasingly affordable and accessible through a variety of genetic testing services. An individual may obtain a detailed genetic analysis by providing a small biological sample (e.g., saliva sample or tissue sample collected using a cheek swab). An analysis of the subject's DNA provides a wealth of detailed medical information regarding the subject's susceptibility to certain genetically-linked conditions and diseases, their response to certain drugs or medications, and the likelihood of passing variants that can cause heritable diseases or conditions to their offspring, even if the subject him/herself is not afflicted with that disease or condition (i.e., is a carrier).
The volume and complexity of these data present a challenge to non-expert individuals understanding personal genetic information as well as medical professionals in communicating with patients. The challenge is several-fold. First, modern analytical techniques facilitate the rapid and inexpensive screening of thousands of individual genetic mutations and/or sequence the entire genome of the individual, thereby generating a large number of individual test results that must be communicated to the individual. Second, these data are being communicated to a lay-person who often lacks any medical training and in the absence of a physician (or with minimal input from a physician). Thus, there is a need to present the personal genetic information, and related information about the interpretation of that genetic information, in a manner that is clear and highly comprehensible to a lay-person.
The disclosed embodiments include a method for constructing a web page. The method includes generating an electronic template for a web page using a processor of a computing platform. The template comprises a plurality of modules arranged in a manner that effectively displays the user's information along with educational, interpretive, and other information to aid the user in understanding the displayed personal information. Although numerous modules are disclosed and described, it is understood that not every module will be present in every web page template. The template may be modified to include, exclude, and re-order modules based on the specific type of user information displayed and, optionally, based on a particular result that is specific to the user. For example, the template may include any two or more of the modules described herein, or it may include any three or more of the modules. The web page template and various styles of reports suitable for various types of personal medical information is exemplified herein, but these examples are not intended to be limiting on the invention.
The template includes a title module for displaying a physiological condition name and a physiological condition description. Optionally, the title module includes one or more condition-associated genes. The title module may be ordered anywhere on the template but is preferably in the first position of the template (i.e., at the top of the web page).
The template further includes a user information module for displaying genetic information of a user that is relevant to the physiological condition displayed in the title module. Optionally, the user information module contains genetic information of a user related to at least one of the condition-associated genes when condition-associated genes are displayed in the title module. The user information module may be ordered anywhere on the template but is preferably in the second position and/or abutting and being positioned below the title module.
The template further includes a test module for displaying intended use information about a test used to determine the genetic information. The test module may be ordered anywhere on the template. In one embodiment, the test module is immediately below and abutting the user information module, interpretation module, informational module, recommendation module, or combined user information/information module.
The template further includes an interpretation module for displaying interpretation information about an interpretation of the genetic information displayed in the user information module. The interpretation module may be ordered anywhere on the template. Preferably, the interpretation module is ordered below the user information module. In other embodiments, the interpretation module is immediately below and abutting the user information module or immediately below and abutting the test module which itself is immediately below and abutting the user information module.
The template further includes an informational module for displaying physiological condition information about the physiological condition displayed in the title module. The informational module may be ordered anywhere on the template. In one embodiment, the informational module is positioned below the title and user information modules. Optionally, the informational module is positioned below the interpretation module or the combined user information/interpretation module.
The template further includes a recommendation module for displaying recommendation information for user action based on the genetic information displayed in the user information module. The recommendation module may be ordered anywhere on the template. In one embodiment, the recommendation module is positioned below the interpretation module, the combined user information/interpretation module and/or the informational module.
The template further includes a combined user information/interpretation module for displaying a user's genetic information for a first trait displayed in the title module, or interpretation information about an interpretation of the genetic information, or both. In one embodiment, the template contains either the user information module together with the interpretation module, or only the combined user information/interpretation module. The user information module may be ordered anywhere on the template but is preferably in the second position and/or abutting and being positioned below the title module.
The template further includes an inheritance module for displaying the relationship between the user's genetic information for the physiological condition and genetic information for the physiological condition from one or more related individuals. In one embodiment, the genetic information for the one or more related individuals is contained within the results database. In another embodiment, the computing platform compares the user's genetic information for the physiological condition to the at least one related individual's genetic information for the physiological condition and displays an inheritance result in the inheritance module. In another embodiment, the inheritance module further comprises a user interface to accept a user input identifying at least one related individual for whom genetic information is stored in the results database. Related individuals may include any individual that is genetically related to the user such as parents, children, etc. The inheritance module may be ordered anywhere on the template but is preferably positioned below the user information module, interpretation module, combined user information/interpretation module, and/or the informational module.
The template further includes a non-genetic information module that contains a user interface for accepting user-entered information about one or more user physiological conditions. Optionally, the non-genetic information entered by the user is stored in the results database. The non-genetic information may be used by the computing platform when generating the display for the inheritance module.
The method for constructing a web page further includes accessing a medical database to obtain the physiological condition name, the physiological condition description, and/or the condition-associated genes and displaying the information in the first module on the web page. The medical condition database may be an electronic, proprietary database containing information related to physiological condition names, physiological condition descriptions, condition-associated genes, and the like. In addition, the method includes accessing a results database to obtain the user's genetic information for at least one of the condition-associated genes and displaying information about the at least one of the one or more condition-associated genes in the second module on the web page. The results database may be an electronic, proprietary database containing information related to genetic information for condition-associated genes. The method further includes accessing a test database to obtain the intended use information about the intended use of the test and displaying intended use information in the third module on the web page. The test database may be an electronic, proprietary database containing information related to intended-use information about a test that is used to assess an individual's DNA.
The method also includes: (i) accessing the medical database to obtain the interpretation information and displaying the interpretation in the interpretation module on the web page; (ii) accessing the medical database to obtain the medical condition information and displaying the information about the medical condition in the informational module on the web page; and (iii) accessing the medical database to obtain the recommendation information and displaying the recommendation in the recommendation module on the web page.
In one embodiment, the web page template facilitates user comprehension of the disclosed material. In one embodiment, the webpage template facilitates user comprehension in a manner that is clear and comprehensible to a lay-person who lacks or substantially lacks medical training and in the absence of a physician (or with minimal input from a physician). In one embodiment, viewing an educational module, such as a tutorial, facilitates user comprehension of the disclosed material. In one embodiment, user comprehension is at least 80% after reviewing the web page generated on the template. In another embodiment, user comprehension is at least 90%.
The web page template and associated methods described herein are not intended to be limiting on the content or format. For example, additional information modules may be included in the template and any module may be ordered in any position relative to any other module within the template, or may be absent. Furthermore, although the invention is exemplified by reference to the assessment, interpretation, and display of a user's genetic information obtained from its genomic DNA, personal medical information of other types and from other sources may be substituted or included. For example, the personal medical information may include information obtained from the analysis of a user's blood, RNA, proteome, and/or microbiome. Personal medical information may additionally include an individual's ethnicity, sex, family history, and the like.
Optionally, the template comprises a scientific detail module (which may be a second web page) containing information about the medical condition, one or more of the condition-associated genes, detailed genetic result information, detailed testing information, recommendation information, and/or any other related information not contained in the populated web page template.
These and other features of the disclosure will be described in more detail below with reference to the drawings.
The accompanying drawings, which are included as part of the present specification, illustrate embodiments and, together with the general description given above and the detailed description of the embodiment given below, serve to explain and teach the principles described herein.
It should be noted that the figures are not necessarily drawn to scale and that elements of similar structures or functions are generally represented by like reference numerals for illustrative purposes throughout the figures. It also should be noted that the figures are only intended to facilitate the description of the various embodiments described herein. The figures do not describe every aspect of the teachings disclosed herein and do not limit the scope of the claims.
The following terms are described to facilitate understanding of the embodiments disclosed herein.
By “physiological condition” is meant any health condition or status of a user. Physiological conditions include, but are not limited to, medical conditions, physical traits, physiological traits, and wellness conditions.
By “medical condition” is meant any disease or disorder that the user has, is diagnosed as having, is at risk for (i.e., predisposed to) developing or contracting, and/or has the potential to be passed on to offspring, whether or not the user has, or is at risk for developing, that medical condition (i.e., including users who are carriers of a genetically recessive disease). Medical conditions include diseases and disorders that have a genetic basis, epigenetic basis, or a combination of both genetic and epigenetic factors.
By “trait” is meant, collectively, physical traits, physiological traits, and wellness conditions.
By “physical trait” is meant any trait that has a defined phenotype and relates to the physical make-up of the user's body. Physical traits include, for example, hair color (light, dark, red, blond, brown, black, etc.), hair curliness, newborn hair amount, male pattern baldness, widow's peak (including presence or absence), unibrow (including presence or absence), finger length ratio, toe length ratio, bitter taste perception, sweet taste preferences, asparagus odor detection, photic sneeze, ear wax type, eye color, height, and skin color or tone, freckling, cheek dimples, cleft chin, earlobe type. Physical traits may be expressed by subjective/qualitative (e.g., color) or objective/quantitative (e.g., size, length, height, etc.) measures depending upon the specific physical trait of interest.
By “physiological trait” is meant any trait that has a defined phenotype and relates to a metabolic, enzymatic, or other physiological processes within the user's body. Physiological traits include, for example, enzymatic activity or expression levels and metabolic phenotypes associated the user's capacity to metabolize nutrients, drugs, or other substances such as lactose, caffeine, acetaminophen, alcohol, and other pharmaceuticals. Physiological traits also include measures of the absorption, distribution, metabolism, efficacy, excretion, and/or potential toxicity or other responses in the user's body of specific drugs, nutrients, and/or other substances. The results associated with physiological traits may be expressed as a binary outcome (e.g., presence or absence of intestinal lactase and/or lactose-intolerant or not), on an arbitrary scale, or as an absolute enzymatic expression or activity level.
By “wellness condition” is meant a measure of any metabolite, nutrient, toxin, or other endogenous molecule that may be causally or associatively linked to health, wellness, and/or disease. Wellness conditions include measures of those molecules that may be influenced by a user's behavior and diet, whether or not the wellness condition also is influence by the user's genetics. Wellness conditions include, for example, the user's level of hemoglobin, blood iron, blood cholesterol, blood lipids (e.g., HLD, LDL, VLDL, etc.), vitamin levels, level of caffeine or its metabolites (e.g., including an index of caffeine consumption), alcohol flush, muscle type, and lactose intolerance. It is recognized that there may be overlap between various traits (particularly physiological traits) and wellness conditions. Although no strict categorization is implied, certain of these physiological conditions may be presented in either format and their categorization may depend upon the specific result and/or recommendation presented. For example, metabolic enzyme levels (e.g., lactase levels) are indicative of a physiological trait whereas the resulting phenotype (e.g., lactose intolerance resulting from low or no intestinal lactase) may be considered to be a wellness condition.
“Condition-associated genes” are those genes that are causative, alone or in combination with other genes and/or epigenetic factors, that are known to, or suspected of, causing or otherwise linked to a physiological condition (e.g., a medical condition or any of its symptoms, a trait, and a wellness condition). For example, BLM is a condition-associated gene for Bloom Syndrome, a medical condition. Condition-associated genes may additionally include genes that are not considered causative but are correlated with a physiological condition and/or any of its symptoms, phenotypes, or manifestations.
A “user” is any person who is accessing personal medical and/or genetic information using the web page and/or template described herein.
“Genetic information” is not intended to be limiting to any particular type of information about the genome and is intended to include information such as the status and identity of point mutations, SNP alleles, haplotypes, insertions, deletions, translocations, karyotype including aneuploidy, and sequence information including DNA sequence information and the sequence of partial genes, genes, chromosomes, chromosome segments, and/or a user's whole genome.
“Test” refers to the specific analytical methodology used to determine a user's genetic information. Tests may be described broadly (i.e., tests for point mutations), with specific reference to the underlying methodology, or functionally (i.e., with reference to that which it is capable and/or incapable of detecting).
“Medical database” refers to one or more databases containing information about one or more physiological conditions, condition-associated genes, interpretations or other diagnostic information about the various genetic information results, and/or recommended user actions for each of the possible results.
“Results database” refers to one or more databases containing genetic and/or non-genetic information of one or more users. Non-genetic information may include, for example, the age, ethnicity (both self-reported or computationally defined), and various phenotypes of one or more users.
“Test database” refers to a database that contains information about, and descriptions of, the various tests used to generate the results that are contained in the results database.
As used herein, the term “web page” refers to an electronic document accessed via network 130 (such as the Internet) that is based on web page template 100. Additionally, a web page may include a document coded using one or more markup languages, such as HTML and/or XML, although the disclosed embodiments are not limited in scope in this respect. As explained more fully below, user computing platform 120 includes a processor (not shown) that may execute instructions, including those related to web browser 125. Executing web browser 125 may allow a user to access and view web pages over the Internet by causing, for example, a web page to be downloaded and displayed to the user via user computing platform 120 (e.g., a desktop computer, a table, a smart phone, etc.). A web page may be identified by a Uniform Resource Identifier (URI), such as a Uniform Resource Locator (URL), associated with the web page.
As illustrated in the paragraphs that follow, the modules may display information related to medical conditions, medical information, and genetic information personal to a user. Users are likely to have a greater interest and understanding of genetics-related concepts when they are presented with information (e.g., test results) that is personal to them. Displaying such information on a web page in accordance with the modular design described herein provides various advantages. For example, the modules may be arranged in a manner that facilitates user navigation through the displayed information and increases overall user comprehension. Similarly, the information provided within each module may be organized and presented in a manner that increases user comprehension of the displayed information. As will be discussed in the following paragraphs, the arrangement of the modules, and the organization of the information in each module, has been refined to increase user comprehension based on studies and testing information, such as user testing data, surveys, questionnaires, and the like. The disclosed embodiments are not limited to any particular configuration, arrangement, or organization of the modules and the information within each module. The arrangement or ordering of modules can be accomplished through their relative positions on a single web page or through how they are presented in a series of web pages, accessed sequentially through hyperlinks and/or other navigational tools present in the modules.
As shown in
In certain embodiments, a web page based on a template as described herein is made available or accessible to end users via a personal genome service platform such as described herein. A personal genome service (PGS) platform may include one or more computing systems and/or one or more databases that serve a plurality of user computing platforms. In some implementations, the web pages described herein are considered part of the personal genome service platform. In some implementations, the web pages and the personal genome service platform share resources such as one or more databases (or portions thereof) and one or more computational engines for, e.g., predicting user traits or conditions from user genetic information.
In certain embodiments, a phenotype prediction engine 156 is used to predict a phenotype given certain information about an individual. Phenotypes that can be predicted by the prediction engine include disease as well as non-disease related traits, physiological traits, and/or physical traits, such as height, weight, body mass index (BMI), cholesterol levels, etc. The types of predictions include but are not limited to the probability of a disease or health or medical condition occurring over the course of an individual's lifetime, the probability of a disease or health or medical condition occurring within a specific time frame, the probability that the individual currently has the disease or health or medical condition, estimates of the value of a quantitative measurement, or estimates of the distribution of likely measurements.
In the embodiment of
Once the models are generated, a member 171 (who may or may not be a part of the cohort used to form the models) can initiate a request via the web interface (structured as described elsewhere herein) to make a prediction about a certain phenotype (such as a particular disease or health or medical condition). The request is sent, in this case via the webserver, to the phenotype prediction engine, which invokes a model applicator 162. The model applicator retrieves genetic, family history, and environmental information about the requesting member from the database, applies the information to the appropriate model, and outputs a phenotype prediction. The phenotype prediction engine, the model generators and applicators, and the models themselves may be implemented in hardware and software as described above with reference to the modules.
Any of the computing platforms described herein, whether controlled by end users or by an entity serving web pages or other information in, e.g., a personal genome service platform, can be implemented as software components executing on one or more general purpose processors, as hardware such as programmable logic devices and/or Application Specific Integrated Circuits designed to perform certain functions or a combination thereof. In some embodiments, code executed during operation of modules can be embodied by a form of software elements which can be stored in a nonvolatile storage medium (such as optical disk, flash storage device, mobile hard disk, etc.), including a number of instructions for making a computer device (such as personal computers, servers, network equipment, etc.). The modules and other computational structures described herein may be implemented on a single device or distributed across multiple devices. The functions of the modules may be merged into one another or further split into multiple sub-modules.
Each module may be implemented as an organized collection of computer data and instructions. In certain embodiments, a module and a template can each be viewed as a form of application software that interfaces with a user and with system software. System software typically interfaces with computer hardware, typically implemented as one or more processors (e.g., CPUs or ASICs as mentioned) and associated memory. In certain embodiments, the system software includes operating system software and/or firmware, as well as any middleware and drivers installed in the system. The system software provides basic non-task-specific functions of the computer. In contrast, the modules and other application software are used to accomplish specific tasks. Each native instruction for a module is stored in a memory device and is represented by a numeric value.
At one level a module is implemented as a set of commands prepared by the programmer/developer. However, the module software that can be executed by the computer hardware is executable code committed to memory using “machine codes” selected from the specific machine language instruction set, or “native instructions,” designed into the hardware processor. The machine language instruction set, or native instruction set, is known to, and essentially built into, the hardware processor(s). This is the “language” by which the system and application software communicates with the hardware processors. Each native instruction is a discrete code that is recognized by the processing architecture and that can specify particular registers for arithmetic, addressing, or control functions; particular memory locations or offsets; and particular addressing modes used to interpret operands. More complex operations are built up by combining these simple native instructions, which are executed sequentially, or as otherwise directed by control flow instructions.
The inter-relationship between the executable software instructions and the hardware processor is structural. In other words, the instructions per se are a series of symbols or numeric values. They do not intrinsically convey any information. It is the processor, which by design was preconfigured to interpret the symbols/numeric values, which imparts meaning to the instructions.
A module may be implemented as a standalone piece of code that provides specific and tightly coupled functionality. In various embodiments, a module (i) includes code and data to implement the described functionality, (ii) has an interface that lets users access its functionality in a consistent manner, (iii) can interact with another module that expects its interface, and (iv) can be deployed as a single unit. For example, dapper.net encapsulates database access. It may have an Application Programming Interface (API) to access its functionality. In some implementations, a module is useable in a modular programming paradigm in which software is composed of separate, interchangeable components called modules. Modular programming breaks down program functions into modules, each of which accomplishes one function and contains code necessary to accomplish this.
A template may be viewed as a page structure or format for a web page. It may be used repeatedly. In addition to the choice and arrangement of modules, a template may include, for example, a horizontal header, followed by a two column layout (A Column=80% width+B Column=20% width) finished with a horizontal footer. Beyond the definitions provided in the template, a user or developer has considerable latitude in customizing a web page. Thus, for example, a developer can insert additional objects (e.g., a search bar, a news feed, a table, etc.), not specified in the template, within a web page.
Not all potential users of web templates have the willingness and ability to design a system for their needs. Additionally, some may wish to use the web but have limited or no technical proficiency. For these reasons, one may use web templates specifically for reuse by non-technical people, although web template reusability is also important for even highly skilled and technically experienced developers.
Programming languages such as Perl, Ruby, C, and Java support template processing either natively, or through add-on libraries and modules. JavaServer Pages (JSP), PHP, and Active Server Pages (ASP with VBScript, Jscript, or other languages) are examples, themselves, of web template engines. These technologies are typically used in server-side templating systems, but could be adapted for use on an “edge-side” proxy or for static page generation.
A web browser and web server are implemented in a client-server architecture; often a web cache is also used to improve performance. The generation of web pages through templates and substitution (insertion) of information in modules may be accomplished using any number implementations, including by using:
Different configurations and arrangements of the modules in
As shown in
When executing, a module displays, via an associated web page, graphical and/or textual elements in the manner discussed below. Each module has various features and feature options as described. Each of these features is displayed or otherwise implemented as the module executes. Execution occurs when the web page is rendered in response to a triggering event such as a user selecting a hyperlink for the web page, launching an application associated with a PGS, etc. Additionally, a module may have code for receiving user input via a user interface presented for the module. For example, the user may type in text or interact with a graphical element. In response to receiving the user input, the module may modify the presented content.
First Module—Title Module
As shown in
The Title Module also may include additional elements, such as a navigational element 215 (“Overview”) and a vertical navigational bar (not pictured). Navigational element 215 may appear in a font (e.g., blue, bolded font) that distinguishes the displayed text from text elements 205 and 210. A user clicking on navigational element 215 may cause the web page to center on text elements 205 and 210, directing the user's attention to the information provided in those text elements. Alternatively, a user clicking the navigation element 215 may cause the web page to center on another module presented elsewhere (e.g., lower down) on the web page. For example, a user clicking on the navigation element may cause the web page to center on the module presented immediately below the module in which the navigation element is provided. The navigational bar (not pictured) enables the user to quickly scroll to another module, for example, to the module described in connection with
As reflected in
Second Module—User Information Module
As shown in
The User Information Module also may include graphical element 320 in conjunction with text element 310. Graphical element 320 enables the user to visually comprehend his or her genetic information as provided in the User Information Module. Graphical elements may include a variety of geometric shapes—such as circles, ovals, capsules, and polygons, as well as triangles, squares, pentagons, hexagons, heptagons, octagons, nonagons, and decagons—and styles and colors. In some embodiments, graphical elements are displayed in a color different from the text color used within the module. As reflected in
Optionally, the User Information Module may provide additional detailed information regarding the user's genetic information. For example, the User Information Module may contain graphical, textual, or a combination of graphical and textual elements that identify the normal or most prevalent condition at the site of a point mutation (variant) of interest along with an indication of the user's actual status for that site. The User Information Module may contain a section having some or all of the elements illustrated in
For physiological conditions that are polygenic and/or continuous in nature, it may be beneficial to present more detailed genetic information. This information typically will be presented in tabular form. As exemplified in
Third Module—Test Module
The Test Module may organize the test information into several sections to facilitate user comprehension of the test information. As shown in
The use of different formatting options and the inclusion of graphical text elements may assist the user in comprehending the provided testing information. For example, text element 345 appears directly below the title 405 which may be displayed in a larger font size relative to other text elements in this module) to draw the user's attention to information the user should consider (text element 410) prior to considering more specific, detailed testing information (text elements 420, 430 and 440). That the test does or does not diagnose health conditions (text element 415) is indicated using bold-style font to alert the user accordingly. In addition, each of the more specific sections 415, 425, 435 and 445 have associated with them illustrative graphical icons 450, 455 and 460 appearing next to the respective titles. Those icons attract the user's attention and inform the user's expectations as to the contents of the corresponding sections, before the user even begins reading the informational points reflected in text elements 420, 430 and 440.
The Test Module further may include text hyperlinks (indicated by reference numeral 470) and/or navigation elements 215. The text hyperlinks may appear in a contrasting font color, size, and/or style to alert the user to the presence of hyperlinks leading to additional information. Additionally, as shown in
Fourth Module—Interpretation Module
The Interpretation Module may include a section title 505 indicating the content of the module, and a text element 510 reflecting the user (Jamie)'s carrier status and interpretation of the user's genetic information displayed in the User Information Module (e.g., as to the tested variant in the BLM gene). For example, if Jamie is determined to not be a carrier of the variant, the Fourth Module may include the statement “You are likely not a carrier,” as shown in
The Interpretation Module may include subtext 515 providing additional explanation and/or clarification as to Jamie's determined carrier status based on, for example, the nature of the medical condition and Jamie's ethnicity. As shown in
The Interpretation Module also may include graphical elements that provide users with visual cues to facilitate comprehension of the displayed textual information. As shown in
In addition to graphical element 520 and text element 525, the Interpretation Module may include graphical element 530 and text elements 535 to further explain the significance of the information displayed in this module. The relationship of this further explanation to Jamie's carrier status may be signaled to the user using a linking icon, such as an arrow or other graphic (not pictured). In one example, graphical element 530b and text elements 535b illustrate and explain the odds of being a carrier of a variant of Bloom Syndrome (in the example provided, odds of 1 in 11,000), depending on Jamie's ethnicity (or other demographic information). In another example, graphical element 530a and text elements 535a illustrate and explain the likelihood of having an affected offspring. Text element 525 may appear in larger and bolded font (relative to text element 535) to capture the user's attention and quickly summarize the informational content of graphical element 520 and text element 525. Graphical element 520 and 530, and text elements 525 and 535 may vary in the case where the user is determined to be a carrier or where user's carrier status is unknown. The Interpretation Module may also include a hyperlink element 540. Preferably, the hyperlink directs the user to a separate module or web page containing additional information relevant to the physiological condition and/or the interpretation presented in this module to inform the user that additional, detailed information is available through various sources (e.g., a “Scientific Details” module). An example of additional, detailed information for user consideration is provided in scientific detail module 190 depicted in
Fifth Module—Informational Module
Below the title and heading, the Informational Module may organize the physiological condition information into several sections to facilitate user comprehension; the user is signaled in to the categories of information by familiar graphical icons (elements 620, 630 and 640). Dividers (reference numeral 650) also may be used to distinguish between the different categories of information. Thus, as shown in
Sixth Module—Recommendation Module
Following the call to action 705, the module provides additional information, hyperlinks, or user-defined actions consistent with the call to action. In the case of medical conditions, for example, the Recommendation Module may provide summary or status information 710 in the form of text, graphics, or both. Element 710a, for example, indicates that “Jamie” should consult a physician if she is considering having children. There is no limit on the number or types of user-defined actions or prompts provided in the Recommendation Module. And, the user-defined actions need not directly impact the user's health. Elements 710b, 711b, and 712b, for example, provide the user with an opportunity to input additional personal information, compare their results to other related and unrelated individuals (also see 711c), and contribute to a relevant discussion forum, respectively. The user-defined action may include a hyperlink 710c to a separate module or web page that provides additional information about the physiological condition.
Seventh Module—Combined User Information/Interpretation Module
The Seventh Module may, but does not necessarily include a navigational element that either draws attention to the user's genetic information (e.g., by causing the web page to center on those elements) or causes the web page to scroll or jump to other modules of the web page associated with the respective navigational elements. The Seventh Module optionally contains a section title (not shown). The Seventh Module provides an interpretation of the user's genetic information may be displayed as graphical element, a textual element, and/or as a single element that is a combination of graphical and textual elements. For example,
An alternative embodiment for the presentation of the user's genetic information is shown in
Although the foregoing examples related to physiological conditions of the user, the interpretation and other information presented in the Seventh Module may instead relate to the probability that an offspring will have the physiological condition of interest based on an analysis of the user's genetic information. Such an interpretation may be modified by information about the actual status of the user's physiological condition of interest.
Although the Seventh Module is exemplified herein in terms of specific elements, the Seventh Module may contain any individual elements described for the User Information Module and/or the Interpretation Module. In one embodiment, the web page contains the Seventh Module and lacks the User Information Module and Interpretation Module. In another embodiment, the web page contains the User Information Module and Interpretation Module, and lacks the Seventh Module. The Seventh Module, when present, may be displayed adjacent to and/or below the Title Module. Preferably, the Seventh Module is positioned below and adjacent to the Title Module.
Eighth Module—Inheritance Module
Below the title and heading 905, the Eighth Module may provide information that indicates the likelihood of and/or relative genetic contribution that any other individual may have made (in the case of the individual/user) or has the potential to make (in the case of the predictive genetic contribution to a child) based on the combination of the user's genetic information and that of the other user(s). As illustrated in
The Inheritance Module, if present, is optionally positioned below the First, Second, Fourth, and/or Seventh Modules. The Inheritance Module may be positioned above or below the Third and/or Ninth Modules.
Ninth Module—Non-Genetic Information Module
The Non-genetic Information Module may be positioned anywhere within the template. In some embodiments, the Non-genetic Information Module is positioned below the First, Second, Fourth, Fifth, and Eighth Modules, if present. Optionally, the Non-genetic Information Module is the last module displayed on the web page.
Web Page Construction From Template
Method 1100 at step 1150 may display interpretation information in the Fourth Module obtained by accessing medical database 170. At step 1160, method 1100 may display medical condition information in the Fifth Module obtained by accessing medical database 170. The medical condition information may include additional detail (for example, typical signs and symptoms, how the condition develops and is treated, and the ethnicities most affected) relative to the information displayed in the First Module at step 1120. At step 1170, method 1100 may display recommendation information in the Sixth Module obtained by accessing medical database 170. The recommendation information may be based on information personal to the user, such as the user's determined carrier status. Method 1100 may display information at steps 1120 through 1170 in varying configurations, consistent with the disclosed embodiments and the description of modules 140, 145, 150, 155, 160 and 165 described in connection with
Scientific Detail Module
In addition to the information displayed in the First through Ninth Modules as described above, the user may be provided with electronic access (for example, through hyperlinks and clickable buttons) to further resources and information, for example, through scientific detail module 190. Scientific detail module 190 may be a second web page. Examples of further resources and information provided in scientific detail module 190 are illustrated in
As shown in
As shown in
The section illustrated in
The section illustrated in
Education Module
To better comprehend the information displayed in First through Ninth Modules as described above, the user may be provided access to an electronic educational module 185. Educational module 185 may be a third web page and may be presented either before, during (e.g., in a split-screen mode in which the user can independently access and scroll through either the web page template or the education module), or after displaying the other modules; although an earlier presentation of the education module 185 is preferred. The education module 185 may be presented as part of the same web page as the First through Ninth Modules, or it may presented as a separate web page. An exemplary educational module 185 is illustrated in
As shown in
In the examples provided in
Continuing to
Comprehension Testing
As indicated throughout this disclosure, one goal of the disclosed embodiments is to facilitate and increase user comprehension of personal genetic and medical condition information. Specifically, it is important that users who receive a test report related to their personal genetic and medical condition information understand several key concepts, including purpose of the test, limitations of the test, meaning of the reported results, and appropriate follow-up actions. The various modules of the disclosed embodiments described above are the result of substantial research, testing, and refinement to increase user comprehension.
For example, different configurations of the disclosed embodiments were tested using a moderated user comprehension study. The study measured user comprehension of the information provided in a sample test report by asking respondents to answer a series of questions based on different scenarios: “Carrier” (the sample test report indicated that the tested individual was a carrier of the tested BLM gene variant), “Absent—Match” (the tested individual was not a carrier but the individual's ethnicity was full Jewish), “Absent—Partial” (the tested individual was not a carrier but the individual's ethnicity was partial Jewish), “Absent—No Match” (the tested individual was not a carrier and the individual's ethnicity was non-Jewish), and “No Call” (the tested individual's carrier status could not be determined). The number of respondents that answered each question correctly for each scenario (expressed as a percentage) are provided in Tables 1, 2, and 3, below. For example, for the sample test report associated with Table 1 in which the tested individual was identified as a “Carrier,” 66% of respondents correctly answered question no. 1.
The modules depicted in
The modules depicted in
A comparison of Tables 1 and 2 reveals that, except for question no. 5, an equal or larger percentage of respondents who were shown a sample test report illustrated by the modules of
The modules depicted in
Similarly, a comparison of Tables 2 and 3 reveals that, except for question no. 2, a larger percentage of respondents who were shown a sample test report illustrated by the modules of
As can be seen from the progression from
Web page template 100 may be characterized as having certain amounts of “positive space” and “negative space” (also referred to as “white space”) which may be measured either globally (on the template as a whole) or within any individual module. Positive space may be understood as referring to the amount of space on a web page that is occupied by text elements and graphical elements. Conversely, negative space may be understood as referring to the amount of unoccupied space on a web page. The relative amount of negative space on a web page may be determined by the equation 1—{positive space/total space}, where each of positive space and negative space is expressed as a relative proportion of the total area being measured. Positive and negative space is measured based on the size of the various informational blocks (e.g., text and graphical elements). For example, a paragraph of text that occupies 50% of the page would be considered to be entirely positive space even though there are a significant number of negative (e.g., white) pixels within the text. It may be convenient to apply weighting factors to informational elements of different types. For example, graphical elements tend to incorporate more negative space within the element itself and also tend to convey less information relative to a textual informational element. However, it was found that user comprehension of the information presented in graphical form was understood and retained (i.e., comprehended) better than the same information presented in a textual element. A reduced weighting may be applied to graphical elements in the calculation of positive space.
It was determined that user comprehension of genetic, diagnostic, and medical information, of the type presented herein, was increased with increasing amounts of negative space and/or use of graphical elements in conjunction with text elements. For example, it was found that user comprehension was increased when textual elements were simplified and deemphasized in favor of more prominent graphical elements paired or linked with the text elements. This indicates that users typically have better comprehension of information appearing in text elements that is reinforced through use of graphical elements. Thus, the positive space calculation may be used as an index of an expected user comprehension, wherein lower amounts of positive space are associated with increases in user comprehension. Accordingly, the calculation may be adjusted using weighting factors in which graphical elements are accorded a lower weight than textual elements. The weighting factor may relate to, or otherwise indicate the amount of negative space within the graphical element itself, or the weighting factor may be fixed. These principles are illustrated by the following examples.
The web page comprises two textual elements, each occupying 50% of the web page. Both the weighted and unweighted calculations indicate a positive space approaching 100% which correctly implies reduced user comprehension relative to layouts incorporating graphical elements in conjunction with text elements.
The web page comprises two graphical elements, each occupying 50% of the web page and each disclosing that the user has a single mutation in each of two genes (e.g., similar to element 320). The unweighted calculation indicates a positive space approaching 100%. However, user comprehension is high given the simple and graphical nature of the presentation. According the graphical elements a lower weight would reduce the calculated amount of positive space and more closely correlate with the expected user comprehension. In practice, many graphical elements will contain some textual information (e.g., element 320) and it is expected that user comprehension of graphical elements comprising large amounts of text will be reduced compared to graphical elements containing little or no text. Accordingly, it is preferred that the weighting factor account for the amount of positive and negative space within the graphical element itself.
Consistent with these examples, it is preferred that text elements displayed on web page template 100 (and/or in a module appearing on web page template 100) account for less than 50% of the positive space. In other words, it is preferred that white space and graphical elements account for more than 50% of the space on web page template 100 (and/or in a module appearing on web page template 100).
Grid-Style Layout of Web Page and/or Modules
In some embodiments, a grid system is used to further increase user comprehension levels. As illustrated in
In some embodiments, the modules displayed on web page template 100 may be divided into 12 columns. Each of the 12 columns may then be further grouped into groups of 1, 2 or 3 columns. For example, the 12 columns depicted in
Such a modular framework increases user comprehension by presenting layouts that are clear, progressive, and consistent. In particular, the grid system described in connection with
Exemplary Web Pages Based on the Template
In one example, the physiological condition is a medical condition. The web page is constructed to contain only the First through Sixth Modules. In one specific embodiment, the modules are ordered as follows: 1-2-4-5-6. The Third Module may be place immediately following the Second, Fourth, Fifth, or Sixth Module.
In another embodiment, the web page further provides a Scientific Details Module, either above the First Module or below the last Module, or as a hyperlink to a separate web page. The Scientific Details Module optionally contains any one or more, but preferably all, of the submodules illustrated in
In another example, the physiological condition is a trait. The web page is constructed to contain the First, Fifth, Seventh, and Eighth Modules. In one specific embodiment, the modules are ordered as follows: 1-7-5-8. Optionally, the Seventh Module is repeated one, twice, thrice, or more, each presenting user genetic information on a different trait. Accordingly, the Fifth Module would be repeated the same number of time, once for each of the different traits. Preferably, the Seventh and Fifth Modules for each trait are displayed consecutively to yield an ordering of modules as follows: 1-7-5-7-5-8. Optionally, the Eighth Module is repeated for each trait to yield an ordering of modules as follows: 1-7-5-8-7-5-8.
Optionally, the web page is constructed with at least one Ninth Module. Preferably, the Ninth Module is positioned below all of the Fifth, Seventh, and Eighth Modules.
Optionally, the web page also contains at least one Sixth Module. The Sixth Module may contain a recommendation for any one or all of the traits displayed on the web page. In one embodiment with multiple (e.g., two) traits, the modules are ordered as follows: 1-7-5-8-7-5-8-6, wherein the Sixth Module contains the recommendation arising from the analysis of all traits. In another embodiment with multiple (e.g., two) traits, the modules are ordered as follows: 1-7-5-8-6-7-5-8-6, wherein each of the Sixth Modules provides a recommendation based only on the analysis of the trait immediately preceding it. It is understood that not all trait analyses give rise to a recommendation. Accordingly, the Sixth Module may be omitted for any one or more of the displayed traits.
Optionally, the Second and Fourth Modules may be substituted for the Seventh Module. Although desirable, there is no requirement that the Second and Fourth Modules remain adjacent to each other.
In another embodiment, the web page further provides a Scientific Details Module, either above the First Module or below the last Module, or as a hyperlink to a separate web page. The Scientific Details Module optionally contains any one or more, but preferably all, of the First, Second, Third, Fourth, and Ninth Modules. In one embodiment, the modules are ordered as follows: 1-3-2-4-9. The Second Module optionally may be omitted. Optionally, the Seventh Module may be substituted for the Second Module.
In another example, the physiological condition is a wellness condition. The web page is constructed with the First, Fifth, Seventh, and Eighth Modules. In one specific embodiment, the modules are ordered as follows: 1-7-5-8. Optionally, the Seventh Module is repeated one, twice, thrice, or more, each presenting user genetic information on a different wellness condition. Accordingly, the Fifth Module would be repeated the same number of time, once for each of the different wellness conditions. Preferably, the Seventh and Fifth Modules for each wellness condition are displayed consecutively to yield an ordering of modules as follows: 1-7-5-7-5-8. Optionally, the Eighth Module is repeated for each wellness condition to yield an ordering of modules as follows: 1-7-5-8-7-5-8.
Optionally, the web page is constructed with at least one Ninth Module. Preferably, the Ninth Module is positioned below all of the Fifth, Seventh, and Eighth Modules.
Optionally, the web page also contains at least one Sixth Module. The Sixth Module may contain a recommendation for any one or all of the wellness conditions displayed on the web page. In one embodiment with multiple (e.g., two) wellness condition, the modules are ordered as follows: 1-7-5-8-7-5-8-6, wherein the Sixth Module contains the recommendation arising from the analysis of all wellness conditions. In another embodiment with multiple (e.g., two) wellness conditions, the modules are ordered as follows: 1-7-5-8-6-7-5-8-6, wherein each of the Sixth Modules provides a recommendation based only on the analysis of the wellness condition immediately preceding it. It is understood that not all wellness condition analyses give rise to a recommendation. Accordingly, the Sixth Module may be omitted for any one or more of the displayed wellness conditions.
In another embodiment, the web page further provides a Scientific Details Module, either above the First Module or below the last Module, or as a hyperlink to a separate web page. The Scientific Details Module optionally contains any one or more, but preferably all, of the First, Second, Fifth, and Eighth Modules. In one embodiment, the modules are ordered as follows: 1-5-2-8. Optionally, the Seventh Module may be substituted for the Second Module.
Other report formats may include modules ordered as follows: 1-5-2-8 and 1-5-7-8.
In the description above, for purposes of explanation only, specific nomenclature is set forth to provide a thorough understanding of the present disclosure. However, it will be apparent to one skilled in the art that these specific details are not required to practice the teachings of the present disclosure.
The language used to disclose various embodiments describes, but should not limit, the scope of the claims. For example, in the previous description, for purposes of clarity and conciseness of the description, not all of the numerous components shown in the figures are described. The numerous components are shown in the drawings to provide a person of ordinary skill in the art a thorough, enabling disclosure of the present specification. The operation of many of the components would be understood and apparent to one skilled in the art. Similarly, the reader is to understand that the specific ordering and combination of process actions described is merely illustrative, and the disclosure may be performed using different or additional process actions, or a different combination of process actions.
Each of the additional features and teachings disclosed herein can be utilized separately or in conjunction with other features and teachings for protective coverings. Representative examples using many of these additional features and teachings, both separately and in combination, are described in further detail with reference to the attached drawings. This detailed description is merely intended for illustration purposes to teach a person of skill in the art further details for practicing preferred aspects of the present teachings and is not intended to limit the scope of the claims. Therefore, combinations of features disclosed in the detailed description may not be necessary to practice the teachings in the broadest sense, and are instead taught merely to describe particularly representative examples of the present disclosure. Additionally and obviously, features may be added or subtracted as desired without departing from the broader spirit and scope of the disclosure. Accordingly, the disclosure is not to be restricted except in light of the attached claims and their equivalents.
Moreover, the various features of the representative examples and the dependent claims may be combined in ways that are not specifically and explicitly enumerated in order to provide additional useful embodiments of the present teachings. It is also expressly noted that all value ranges or indications of groups of entities disclose every possible intermediate value or intermediate entity for the purpose of original disclosure, as well as for the purpose of restricting the claimed subject matter. It is also expressly noted that the dimensions and the shapes of the components shown in the figures are designed to help to understand how the present teachings are practiced, but not intended to limit the dimensions and the shapes shown in the examples.
None of the pending claims includes limitations presented in “means plus function” or “step plus function” form. (See, 35 USC §112(f)). It is Applicant's intent that none of the claim limitations be interpreted under or in accordance with 35 U.S.C. §112(f).
This application claims benefit under 35 U.S.C. §119(e) to U.S. Provisional Patent Application No. 62/210,905, filed Aug. 27, 2015, and to U.S. Provisional Patent Application No. 62/244,128, filed Oct. 20, 2015, which are herein incorporated by reference in their entirety.
| Number | Date | Country | |
|---|---|---|---|
| 62210905 | Aug 2015 | US | |
| 62244128 | Oct 2015 | US |
