Genetic Counseling Using Workflow-based EMRs Bo Yu⇤ , Duminda Wijesekera⇤ , Paulo Costa † , Sharath Hiremagalore⇤ ⇤ Department of Computer Science, George Mason University, Fairfax, VA, USA {byu3,dwijesek,shiremag}@gmu.edu † Department of Systems Engineering and Operations Research, George Mason University, Fairfax, VA 22030 pcosta@gmu.edu Abstract—Widespread use of genetic tests for medical treat- more diseases are added to the list for genetic tests that are ment and clinical genetic counseling–as a cost-effective treatment available. for an increasing number of hereditary disorders–has led to study Several companies such as 23andMe [1], Gene by Gene [4], of privacy and disclosure issues, and has compelled governments to limit disclosure of test results. To the best of our knowledge, Color Genomics [3], and others, offer genetic tests and risk no clinical workflows for genetic counseling apply applicable assessment services in the direct consumer market. Addition- information disclosure laws have been documented and enforced ally, larger laboratories such as Myriad Genetics cater directly in Electronic Medical Records (EMRs). To fill this void, herein to health-care providers [8]. Information from these results are we model a representative genetic counseling workflow and show analyzed by professionals in genetic science who then provide how to simultaneously enforce privacy and informed consents in an open-source EMR. Our prototype provides workflow-guided counseling services to patients. With increased competition counseling as well as consent management that enforces state and and lower costs of genetic tests [7], genetic counseling is going federal law-compliant genetic information sharing. to play an important role in preventive care. This places genetic Index Terms—Genetic Privacy, Privacy Laws, Electronic Med- counselors in a critical path to explain the outcomes of genetic ical Records (EMRs), Workflow Management Systems, Ontology tests, and suggest possible courses of action [19]. Conducting genetic tests involves addressing ethical and privacy issues. Samples of human blood/tissue, and derived I. I NTRODUCTION genetic information are able to precisely identify an individual As genetics research advances, the list of predictable dis- and a group of related people that may be susceptible the eases is growing. For example, having been identified genetic same diseases as the original sample donor. Consequently, mutations which associated with diseases include breast can- when genetic sequence information is shared without consent, cer, ovarian cancer, sickle cell anemia, etc. Studies have shown lost, stolen, or used for a purpose other that which consent that preventive care costs significantly less than treatment was obtained, the identity of a person is compromised. This upon diagnosis of a disease [18], [26]. Therefore, genetic information can be used by a third party to discriminate or, tests, along with family history, are becoming a common worse, harm the donor or a group of people. Prince et al. practice in identifying risks of many hereditary conditions. describe three practical genetic counseling cases that illustrate clinical genetic services are the complex processes, usually genetic discrimination [20]. Individuals may face discrimina- involve genetic tests for finding gene mutations to make tion in life, disability, and long-term care insurances. In other eventual disease onset predictable and Genetic counseling for cases, when genetic information privacy is compromised, an explaining genetic test outcomes and suggest possible courses individual may experience the stigma of having to carry a of action [12] to genetic tests requesters. Genetic test results genetic marker for a disorder or disease. are not only being used as indication basis for providing pre- Although, genetic tests have existed for a while, using ventive and preemptive treatment for hereditary diseases, but genetic information for diagnosis and treatment is a part also being broadly utilized for research purposes to discover of a larger process that is being broadly termed as genetic more and more new findings. To compare with other medical counseling. Consequently, the precise processes (workflows) researchers, researchers in genetic medicine need to use both used by medical practitioners for genetic counseling is not genetic test results and their owners identifiable information, very well defined. A good counter example is the workflow so more open accesses are required, e.g. using an opt-out for hemodialysis where the a standard workflow for treat- consent that is much less rigorous in format for sharing data. ment is used by medical practitioners [24]. Although there Genetic tests usually involve finding known changes - is an increase in the bio-medical master degrees awarded by referred to as mutations - in a gene of a person that causes medical schools [14], less than 35 universities offer degrees diseases. Researches have identified genetic mutations asso- with specialization in genetic counseling [2]. This results in ciated with various diseases such as breast cancer, ovarian difference in the process followed during genetic counseling. cancer, sickle cell disease, -thalassemia, left ventricular non- As a means of articulating different workflows currently compaction cardiomyopathy (LVNC), and Alzheimer disease emerging in genetic counseling and their larger usage in patient and many others. As new research on known gene mutations diagnosis and treatment, we have developed a prototype for become available, and medically acceptable as indications, genetic counseling with a flexible way of specifying and using STIDS 2015 Proceedings Page 66 these workflows. In our prototype, we implement a workflow II. R ELATED W ORK based on [17]. However, our tool can be easily modified to Electronic Medical records for Genetic Counseling accommodate the changes in the workflow at a later stage. Electronic Medical Records (EMRs) plays a vital role of The two US federal laws that regulate sharing of genetic book keeping in the health-care industry. However, EMRs for information are Health Insurance Portability and accountabil- genetic counseling present a unique set of challenges [13] ity act of 1996 (HIPAA) [10], and Genetic Information Non- as identified by Belmont et al. A major issue identified by discrimination act of 2008 (GINA) [5]. HIPAA considers the Belmont study the required uniformity in representing genetic information to be confidential medical information collected genetic data. Additionally, this study highlights the and regulates health-care providers. GINA regulates employers privacy, ethical and legal issues of handling genetic data in and health insurance companies but not health-care providers EMRs. Ours is a flexible freeware based platform to study in using genetic information and protects individuals form these issues. discrimination based on genetic conditions. However, GINA Scheuner et al. conduct a case study to verify if the does not apply to federal government employees or employ- current EMR systems meets genetic information needs [21]. ers with fewer than 15 employees. These complex laws, in This study involved results and conclusions gathered from addition to the fragmented laws in each state, form the basis discussion about 56 patient’s electronic medical records with for information sharing and consent management workflows 10 EMR specialists, 16 medical geneticists, and 12 genetic of our prototype system. In creating our prototype system, we counselors. An overall lack of support for functionality, struc- also noticed significant regulatory gaps that create additional ture, and tools for clinical decision making was an important burdens in providing automated workflow-based guidance in finding. genetic counseling. A more recent study of the state of EMRs supporting ge- Challenges. The following are the challenges for imple- nomics for personalized medicine again identifies structuring menting a workflow-based EMR for genetic Counseling: of data as a challenge [22]. The authors also identify clinical • Genetic Counseling is a new and an emerging field workflow management as a priority area that needs further re- where the workflow has not been standardized, although search, development, and testing. Functionality, structure, and providing a basis to do so would facilitate this emerging support for genetic information specific data is easily added to area and the mission of training genetic counselors. an EMR system. However, current EMR systems for genetic • Genetic information collected for tests and their sharing counseling still lack support for workflow enforcement and have to conform to HIPAA [10] and GINA [5] regula- the ability to collect specialized genetic information sharing tions. consents and enforce them on EMRs that contain the data. • State laws to protect Genetic information vary and add Genetic Counseling ontology complexity to the system. HIPAA specifies that stricter The Gene Ontology Consortium has developed an ontology sharing laws mandated by state regulation can override to store structured gene information in databases [16]. The HIPAA policies. ontology provides structured terms and vocabulary to store • Although commercial systems may include Genetic information regarding gene, gene products and sequences. The Counseling in their packaged EMRs, it is difficult to structure and terms developed by this team lacks support for verify their workflow as they are closed source. capturing the terms used for informed consent requirements laid out by law. In a more closely related work, authors in [26] Contributions. In order to address the above limitations describe an ontology for treatment consent. The ontology of existing EMR systems, we present an end-to-end managed presented is, however, insufficient for capturing the terms and EMR prototype for genetic counseling that can accommodate vocabulary used in information disclosure consent. In this the emerging workflows and diversity of state regulations (or work, we develop the ontology containing the structure and lack thereof) in a re-programmable way. To the best of our terms required for information disclosure consent. knowledge, the proposed system is the first of its kind. Our Genetic Counseling informed consent working prototype has the following features: Obtaining informed consent for diagnosis (including testing) • Automatically suggests Genetic Counseling for known and treatments is a very well studied area and a mandatory disease codes requirement on care providers. In particular, care providers are • Enforces a standardized work-flow for Genetic Counsel- required to obtain informed consent for genetic counseling as ing much as any other treatment. A preliminary study convened • Automates paperless information sharing and medical jointly by the National Institute of Health (NIH) and the Center treatment consent in accordance with local laws for Disease Control (CDC) [15] presents the risks and ethical issues involved in collecting and storing tissue samples for The rest of the paper is organized as follows: Section II genetic tests in a research setting. Ethical and legal issues are describes the closely related work in this area. In section III similarly present in a clinical genetic counseling process. we describe the implementation of our system. Finally, we Authors in [25] present an automated and paperless in- present our conclusions in Section IV. formed consent management system for medical treatments. STIDS 2015 Proceedings Page 67 This work provides a generic framework to enforce informed tasks involved in the genetic counseling process. We present consent for minors. The work presented in [25] only enforces the details of consent management later in section III-B. general treatment consent. This work does not specifically 1) Collection of Medical Records, Family History, and address the additional issues related to genetic counseling and Social History: sharing of genetic information. Genetic counseling requires • Require Genetic Counseling: A genetic counseling enforcement of information disclosure, research and sample case originates with a physician’s referral for a and genetic information retention consents in addition to genetic counseling. Alternatively, in other cases a treatment consent. The objective of this work is to create a patient self requests genetic counseling after learn- workflow that enforces all types of mandated informed consent ing of a manifestation of a genetic disorder in a requirements in the genetic counseling process to comply with family member. local, state and federal regulations. • Patient Walk-in: In the case where a patient self III. S YSTEM requests genetic counseling, upon arriving at the genetic counselors office, the patient is asked to This section presents details of our prototype genetic coun- provide social and family history. Additionally, if seling EMR system within a sample enforced workflow. We copies of medical records are provided, they are first describe genetic counseling workflow and the challenges recorded in the system. In our workflow model, involved in modeling the process. Then we present a model of the patient is presented with a detailed family and this workflow using a work-flow engine. Next, we describe the social history questionnaire to assess the risk of a different types of informed consent for genetic counseling. We suspected Hereditary Cancer Syndrome. We model then collate the federal and state laws that regulate disclosure this questionnaire based on forms developed by the of genetic information. Then we describe how we enforce Virginia Women’s Center [11]. the disclosure consent for genetic counseling to comply with • Physician’s Referral: When a physician refers a various state and federal laws. Lastly, we describe how we patient for genetic counseling, the patient is asked integrate the workflow enforcement with an open-source Med- to sign release forms for medical records from the ical Record System (OpenMRS). referring physician (if not already provided). Else, A. Genetic Counseling Workflow if the patient brings in copies of medical records, they are recorded in the system. The Genetic Counseling Definition Task Force defines Ge- • Requirements Review: Information collected from netic counseling as The process of helping people understand the patient is reviewed for completeness. If any, and adapt to medical, psychological, and familial implications missing information is collected from the patient, of genetic contributions to disease. A team of health care patient’s primary care physician or public sources of workers involving, but not limited to, Medical Practition- ancestry information. This is shown in the ‘Collect ers, Bio-curators, Genetic Counselors, Molecular Pathologists, More Information’ process in the modeled workflow Medical Geneticists play an important role in Genetic Counsel- (Fig. 1). Once all of the information (to the best ing. Similar to other medical procedures, genetic Counseling of patients knowledge) is collected, one or more of follows a well defined protocol. This protocol involves several following people review the collected information: tasks performed by the caregivers in a particular sequence Genetic Counselor, Molecular Pathologist, Medical called the workflow. Geneticist. Next, they verify if a genetic test is Although genetic counseling has been around for a while, available to answer the questions posed by the we were unable to find a documented and modeled workflow patient or the treating physician. for this process. Therefore, we present a detailed documenta- tion for clinical genetic counseling. We model our workflow 2) Pre-test counseling: Once an insurance or payment au- based on a presentation about clinical genetic counseling from thorization is obtained, the patient meets with a genetic Stanford’s Clinical Genomics program [17]. In addition to counselor for pre-test counseling. The genetic counselor the previous presentation, we refer to another presentation by performs the following sub-tasks for pre-test counseling: O’Daniel et al. on Genomic Medicine [18] for additional de- • An informed consent is obtained for counseling, i.e., tails. Here we provide a detailed documentation and overview Genetic Counseling Treatment Consent. As a part of the Genetic Counseling workflow. Figure 1 shows the work- of this informed treatment consent, the counselor flow for genetic counseling modeled using a workflow editor, provides the patient with information about the risks created using an open-source workflow system YAWL [23]. and benefits of this process. Our modeling of the workflow is tailored to genetic coun- • The family, social, and medical history provided by seling for Hereditary Cancer Syndromes. However, this can the patient is reviewed. be modified to accommodate any other genetic disorder. The • The counselor discusses the expected range of re- following list walks through the details of the individual tasks sults and their impact on the patient and their involved in the process of providing genetic counseling to a relatives. Additionally, the counselor discusses other patient. The following list focuses on describing individual potential incidental findings that may be in the STIDS 2015 Proceedings Page 68 Fig. 1: Genetic Counseling Workflow report. Incidental findings are those findings in the • If the additional evaluation or referral for treatment test results that are not associated with the primary (e.g. prophylactic mastectomy) is warranted, refer- reason for conducting the test, but indicative of other rals or orders are issued by the genetic counselors. genetic disorders. The counselor also discusses eth- Alternatively, the patient may decline to accept the ical issues that could arise from conducting or recommendations of the genetic counselor. If the disclosing these test results. Before ordering the recommendations are declined, it is recorded in the tests, any questions or clarifications from the patient EMR. are answered. • The counselor finally discusses implications of the • If applicable, consent for sharing information for findings on related family members. At this point, research purposes is collected. the genetic counselor may recommend the patient 3) Lab work: Blood or tissue samples are collected from to personally inform related family members about the patient for genome sequencing. Generally, 1 tube the test results and treatment options by providing of blood is collected for sequencing. An additional templates. Alternatively, they may obtain consent to tube may be collected for confirmatory studies. Another disclose test results to affected family members. tube of blood may be collected from the patient with • Lastly, if required, the counselor may schedule appropriate consent for research purposes. The blood follow up appointments . and tissue samples are then sent to a laboratory for 5) Disclosure and other Consent: At the end of the sequencing and the sequenced genetic information is genetic counseling process, the care provider may be re- returned to the genetic counseling team. We do not quired to obtain consent to retain samples and/or genetic model the workflow for genome sequencing in the information (sequencing results) and genetic test reports laboratory in this paper. based on state and federal regulation. Additionally, the 4) Post-test counseling: Once the sequencing results are care provider may require additional disclosure consents reported back to the genetic counseling team, a draft to share information with other individuals or entities as report is prepared. This draft report is reviewed by a required by law. If consent to retain genetic samples and review team consisting of Genetic Counselors and/or test information is denied, they must be destroyed and/or Medical Geneticists, Physicians, and/or content experts. purged from the EMR records. Once these housekeeping Once reviewed, the final report is uploaded into the EMR tasks are complete, the genetic counseling workflow and is ready for the patient. When the patient meets the comes to an end. counselor to discuss the test results, the following sub- tasks are performed: B. Informed Consent in Genetic Counseling • The test results are reviewed by the counselor with As discussed earlier, if a proper workflow is not enforced the patient. Once the review is complete, the coun- for genetic counseling in the EMRs, it may leave health-care selor assess the comprehension and coping skills of providers and/or health-care organizations open to lawsuits. the patient. Existing laws limiting genetic information disclosures do not STIDS 2015 Proceedings Page 69 generally consider ethical issues involved during the disclosure and the name of the entity to which it is disclosed. process. Ethical issues present an abstract concept that need to In certain cases, the reason for disclosure may also be be carefully considered by genetic counselors on a case-by- provided. HIPAA, and state laws provide for exemptions case basis. Additionally, an organization’s ethical guidelines from this type of consent (e.g., Identification of bodies). my regulate disclosure of genetic information, which upon Certain states also require that a consent be obtained for disclosure may tangibly affect a third party. Lack of clear each instance of disclosure called re-disclosure consent. federal and state legislation covering ethical issues and individ- We model these exemptions and re-disclosure consent in ual Organizational ethics boards having different requirements our workflow. makes it difficult to model them as workflows as of this • Research Consent: In most cases an informed consent is writing. Therefore, we leave documenting the workflow for required from the patient to conduct a research. Research ethical disclosures as future work. consents explains how the genetic information and sam- One stark difference between other medical treatments such ples collected would be used in the study and the potential as eye surgery, or hemo-dialysis is that the patient can stop outcomes of the study. They may also specify if the genetic counseling at any stage of the workflow. Patients are patient will be informed about any medically actionable permitted to revoke a consent at in point during the counseling findings from the research study and the extent of infor- process. Once a patient revokes a consent or declines to mation that will be shared with the participants. Research continue treatment, the care provider is required to document consents are mostly governed by Internal Review Boards this in the EMR. Workflow in Figure 1 allows patients to of individual organizations. Most organizations require a revoke or decline treatment at specific check-points in the research consent for genetic research as a best practice. workflow. However, certain states exempt research organizations In this part we focus on enforcing informed consent re- from research consent were only de-identified informa- quirements stipulated by state and federal laws. Managing and tion is collected and/or disclosed as a part of the research. documenting informed consent during the genetic counseling • Retention Consent: Retention consent pertains to retain- process is different from other general treatments. A patch ing blood or tissue samples and genetic information or work of state and federal laws and regulations to be followed test results once the test is complete and results are shared by the care provider in each state adds additional complexity with the patient. Some states require blood and tissue to the workflow of genetic counseling. The following types of samples be destroyed at the end of the test. Since blood informed consent is required for Genetic Counseling: and tissue samples are collected and sent to the laboratory • Treatment Consent: Treatment consent for genetic coun- for processing we do not capture retention consent in seling helps the patient understand the risks, benefits, this particular case in our workflow. We capture in our and limitations of genetic counseling and are modeled in workflow, cases where states require a retention consent our workflow. Treatment consent regulation varies greatly for storing genetic information or test results. If retention among states, the details of which are captured in [25]. consent is denied, information and test results are purged This consent is different from generic treatment consent at the end of the genetic counseling process. as the test results may have the following outcomes: Positive, Negative, and Uncertain. For example, if a pa- tient is being tested for Hereditary Breast Cancer markers BRCA1 or BRCA2, the results may be positive for mu- tations that increase the risk of breast cancer. The results may be negative for known mutations or it may contain unknown mutations that have not been studied. These test results are classified as medically actionable (e.g. prophylactic mastectomy) or in-actionable (no treatment is available). A separate consent is recommended for finding incidental mutations that may be actionable or in- actionable. Consent is also required for collecting blood and tissue samples from the patient prior to conducting a test. State laws provide for exemptions to requiring treatment consent in certain cases such as Paternity tests. • Information Disclosure Consent: Information disclo- sure consent is regulated at both state and federal level. Fig. 2: Consent Workflow HIPAA, GINA, and individual state laws such Delaware Code §16.2.120 - §16.2.1227, protect patients from unau- 1) Consent Management in the Workflow: In this section, thorized disclosure of genetic information and test results. we describe how we enforce the required consents in the Laws usually require that the patient is provided with genetic counseling workflow. Although we focus on the en- information about the type of information being disclosed forcement of disclosure consent, other types of consent may STIDS 2015 Proceedings Page 70 be enforced in the workflow very similarly to the disclosure for information disclosure consent in genetic counseling. The consent. figure shows the requests relationship between an information Figure 2 shows the workflow specification for the different requester and Genetic Information. Genetic Information is types of consent modeled in YAWL. The consent workflow considered as Protected Health Information (PHI) according runs as a separate service in the workflow engine. When a to HIPAA. Definitions pertaining to genetic information are task requires consent in the genetic counseling workflow, the included in detail in this legislation. An individual’s genetic consent workflow is invoked to manage the consent require- information is defined to include the following: ments. In the case of information disclosure consent, the work- • Genetic test results of the patient fow checks the purpose for the information request. HIPAA • Genetic research results of the patient classifies these purposes into different disclosure categories • Genetic test results of a related family member described later in this section. If the disclosure type requires • Information about manifestation of a genetic disorder in a consent, the consent workfow enforces this requirement. a family member For simplicity, our modeled workflow enforces retention and research consent for all states as it is a best practice. For a HIPAA permits or denies information disclosure of PHI detailed working of the treatment consent tasks, refer to [25]. and states the informed consent requirements based on the In order for the workflow to enforce all of the above type of information requester and the purpose for which the consents for genetic counseling, we use a rule base to codify information is being requested. HIPAA further classifies an laws. We do so by first modeling the term structure we use information requester as State/Federal Agencies, Individuals, to specify rules and then use OWL Description Logic (DL) Covered Entities, and Business Associates. These sub types to specify these rules using the terms created in our ontology. are shown in Figure 3. Based on type of the requester We use the open source ontology editor Protégé and the Pellet requesting access to genetic information, HIPAA classifies reasoner to create the rules and specify the rules respectively. request purpose into the following categories: During the counseling process, the workflow engine YAWL • Required Disclosures: Required disclosures do not re- invokes the rule bases’s run-time to determine the required quire any consent from the patient and are required to be consents and generates the required consent forms that are disclosed. E.g. HHS Compliance Review displayed to the patient. Once the patient signs the forms, the • Permitted Disclosures: These disclosures are permitted workflow proceeds to the next step, thereby enforcing federal by law without consent. However, an organization may and applicable state laws during the counseling process. choose to implement policies and procedures requiring additional consent requirements. Examples of permitted Genetic Test Family Genetic disclosures include Treatment, Health care Operations, Results Test Results PHI: Genetic Information Public Interest and Beneficial Activities, etc. Genetic 78 Fed. Reg. at 5662; Genetic • Authorized Disclosures: Authorized disclosures require 45 CFR § 160.103 Research Results Disorders in informed consent from the patient, such as for General Family Research, Marketing, Psychotherapy Notes, etc. Requested by Request The complete set of Privacy Rules were obtained from Purpose HIPAA located at 45 C.F.R. Part 160. These rules are then Information written into the Pellet reasoner for enforcing information Requestor disclosure consent requirements. In addition to the federal in- formation disclosure requirements described in HIPAA. State State or Federal Govt. Agency Covered Business laws regulate genetic information disclosure. They may have Entity Associate additional or fewer requirements when compared to HIPAA. Individual For example, Delaware has a comprehensive code on regulat- Health Health Plan Health ing disclosure of genetic information and test results. On the Care Care Self/Owner Personal Provider Clearing other hand, states such as Alabama have no specific legislation. Representative House In 2008, only 27 of the 50 states had specific laws requiring National Provider National Health consent to disclose genetic information [6]. As of 2014, this ID (NPI) Plan ID (NHI) number had risen to 35 [9]. Other states are acting swiftly to Employer ID No protect address the issue of genetic information privacy of its (EIN) citizens. We gather all pertinent state laws governing genetic Fig. 3: Entity-Relationship Diagram for Genetic Information information passed until 2014 from [9]. Table I shows genetic information disclosure laws for a sample of selected states. In order to model the terms structure for genetic information These laws were then transformed into a simple algorithm disclosure, we start by identifying the relationship between to permit or deny disclosures of genetic information. Finally, the information requester and Protected Health Information these algorithms were translated into rules to enforce a state (PHI) as defined by HIPAA. Figure 3 shows the ER diagram laws in the reasoner as described above. STIDS 2015 Proceedings Page 71 State Informed Disclosure Consent Law Required/Permitted Disclosures Alabama N/A N/A ... - Disclosure is necessary for the purposes of a criminal or death investigation or a criminal or juvenile proceeding or to protect the interests of an issuer in the detection or prevention of fraud, material misrepresentation or material nondisclosure - Disclosure is necessary to determine paternity - Disclosure is authorized by order of a court of competent jurisdiction - Unlimited access by subject - Disclosure is made pursuant to the DNA analysis and data to their own genetic information bank requirements of §4713 of Title 29 - Disclosures are to be authorized - Disclosure is for the purpose of furnishing genetic Delaware by obtaining informed consent information relating to a decedent for medical diagnosis of of the tested individual describing blood relatives of the decedent the information to be disclosed and - Disclosure is for the purpose of identifying bodies to whom - Disclosure is pursuant to newborn screening requirements established by state or federal law - Disclosure is authorized by federal law for the identification of persons - Disclosure is by an insurer to an insurance regulatory authority - Disclosure is authorized in accordance with §1201(4)d. of this title - Disclosure is otherwise permitted by law ... Public entities are exempt from disclosure restrictions. Informed consent is required to Florida Pursuant to Florida Statutes §119.07(1) and Statutes 42(a), disclose genetic test results Article 1 of the Florida Constitution ... Wyoming N/A N/A TABLE I: State Laws limiting Genetic Information Disclosure Flowchart 4 shows how genetic information disclosures IV. C ONCLUSIONS are allowed or denied in a based on organizational policies, In order to model the genetic counseling workflow, we State, and Federal laws. When genetic information or test present and document the details of the sequence of tasks results are requested, information about the requester, Request performed by the care providers during genetic counseling purpose, and genetic information are collected in the EMR process. We also study and extract rules from federal and system. These are then passed to the modeled workflow, which state laws that limit the disclosure of genetic information. We uses the reasoner to assess whether a consent is required. use these rules to implement a workflow-enforced Electronic The workflow then triggers the EMR system to display Medical Record System tailored for working with Genetic the appropriate consent forms. When both state and federal Counseling. laws exist, HIPAA resolves eventual contentions by providing To the best of our knowledge, our work presents a first precedence to the law that does not require a consent for working open-source prototype EMR for genetic counseling. information disclosure. This precedence rule is implemented in Our genetic counseling EMR supports automatic paperless the reasoner. The procedures modeled in flowchart 4 allow for enforcement of treatment consent, information disclosure con- individual organizational policies in the information disclosure sent, research consent, and retention consent. This workflow process. However, our implementation does not model any enforced genetic counseling EMR would enable genetic coun- organizational information disclosure policies. seling services provided by care providers and health care organizations to comply with state and federal laws concerning genetic information privacy. As a result, our EMR saves care providers and health care organizations from unnecessary 2) Workflow enforced EMR: In the last step, we modify the litigation that would arise when proper procedures are not source code of OpenMRS, an open source Electronic Medical followed. Additionally, the electronic audit trail left by our Record System, to provide specialized interface for genetic EMR would help care providers and health care organizations counseling. We add JSP scripts to OpenMRS to generate during eventual litigations. treatment, information disclosure, and research consent. 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