TY - JOUR
AU - Weir,, Charlene
AB - Abstract Objective To identify needs in a clinical decision support tool development by exploring how primary care providers currently collect and use family health history (FHH). Design Survey questionnaires and semi-structured interviews were administered to a mix of primary and specialty care clinicians within the University of Utah Health system (40 surveys, 12 interviews). Results Three key themes emerged regarding providers’ collection and use of FHH: (1) Strategies for collecting FHH vary by level of effort; (2) Documentation practices extend beyond the electronic health record’s dedicated FHH module; and (3) Providers desire feedback from genetic services consultation and are uncertain how to refer patients to genetic services. Conclusion Study findings highlight the varying degrees of engagement that providers have with collecting FHH. Improving the integration of FHH into workflow, and providing decision support, as well as links and tools to help providers better utilize genetic counseling may improve patient care. OBJECTIVE Innovation in genetic mapping and testing has created exciting diagnostic and therapeutic opportunities that promise to save lives, especially in the fields of oncology and childhood diseases.1 Family health history (FHH) screening is a critical first step in making these promises come to fruition.2 FHH is necessary to assess an individual’s risk of disease, support appropriate surveillance and optimal treatment regimes, and identify patients in need of further genetic counseling.2,3 FHH also affords an opportunity to extend care to a patient’s family members who may be asymptomatic carriers.4,5 Existing literature suggests that patients have low knowledge about their own FHH and publicly available online tools for collecting FHH remain underutilized.6,7 Providers need tools to better help patients understand the importance of FHH. They also need computer-supported protocols to fully utilize it in clinical decision-making.1,8,9 In the era of increasing genetic innovation, FHH data needs to be personalized and actionable in order for providers to fully adopt it. As a starting point for assessing the potential for FHH to inform decision support that facilitates changes in screening and intervention patterns, this study sought to understand how primary care providers integrate FHH into their workflow in order to make clinical decisions. The study was conducted in a large university-based healthcare system with 1 integrated electronic health record (EHR) system (Epic®) for both inpatient and outpatient settings. The EHR software contains an off-the-shelf FHH section that is available to all Epic® customers. Providers and clinical staff can access the FHH section through a “tab” in the EHR and enter FHH assertions in structured fields using drop-down menus. Similar functionality is available in other EHR products. This research was part of a larger study to develop automated methods to identify genetic risk data from the EHR targeting colon cancer, breast cancer, and ovarian cancer. The study was approved by the University of Utah IRB (IRB_00085868). BACKGROUND AND SIGNIFICANCE Clinicians have grappled with the complexities of FHH for decades, including difficulties integrating FHH collection in clinical workflows, lack of standardized FHH collection instruments, and issues with FHH accuracy.10–13 The uptake of EHRs across healthcare settings in the United States coincided with a growth of diverse digital FHH collection tools facing the same problems.2,14–16 The advent of precision medicine has meant increased potential value in FHH, even as efforts to standardize and automate its collection remain works in progress.17–20 While physician attitudes toward using FHH are generally positive,21 barriers to collecting FHH during visits can be substantial.22 Collection of FHH and the processes used for documentation and coordination vary in the published research.23 The most frequently cited barrier to FHH collection is the time required during clinical encounters.6,7,9 In settings that have an EHR with a family history module, time spent processing the information collected by others can be a problem for high-volume clinical settings. Incomplete FHH can substantially decrease usefulness, and even ascertaining the adequacy of documented FHH is complicated by the common practice of recording FHH in dispersed locations throughout the EHR.15,16 Even when FHH is adequately documented, existing literature suggests that providers may lack knowledge of how to use this information to counsel patients, to track and monitor, and to coordinate with genetic services.15,23–29 The existing literature highlights the importance of FHH collection methods that meet 2 goals. First, FHH collection systems must be efficient, easy to use, with minimal time burden. Second, FHH decision support is needed that will maximize appropriate and patient-tailored use of screening, especially for individuals at higher risk for hereditary diseases.30 To support tool development to meet these goals, this study sought to characterize provider-reported workflow in gathering and documenting FHH, clinician attitudes toward FHH, and gaps in integrating FHH into everyday clinical decision-making. MATERIALS AND METHODS Overview and design This study used a two-phase qualitative approach to identify how FHH is collected and used among primary and specialty care providers at University of Utah Health (UUH). In phase 1, our team administered an oral survey to outpatient clinicians at their respective clinics, assessing their workflow for collecting and using FHH information. In phase 2, semi-structured interviews were conducted to expand on issues raised in phase 1, including providers’ methods for collecting and using FHH, approaches to coordinating care with genetics counselors, and strategies for integrating FHH into care planning. Participants and setting In phase 1, medical assistants (MAs) and primary care providers at 10 clinics within UUH were interviewed during on-site visits using a standardized questionnaire designed to address workflow patterns. Nineteen male and 21 female physicians agreed to participate, although some participants did not answer all of the survey questions. All surveys were administered orally in a 1:1 context without audio recording. For each clinic, researchers reached an estimated 90% of those working on that day. Respondents averaged 12.33 years of clinical experience (sd = 9.87) and 7.62 years of clinical experience in UUH (sd = 6.86).Ten (25%) were aged between 18 and 24 years, 11 (27.5%) were aged between 25 and 34 years, 13 (32.5%) were aged between 35 and 44 years, and 6 (15%) were aged between 55 and 64 years. In phase 2, semi-structured oral interviews were conducted and digitally recorded with 12 additional providers at 4 of the targeted clinics within UUH. Providers averaged 15.8 years of clinical experience (sd = 10.77). Convenience sampling was used, with researchers attempting to collect data from a range of specialties available at each location. Respondents included 4 providers in family medicine, 5 in internal medicine, 2 obstetric/gynecologist, and 1 mental health. Instruments In phase 1, a survey questionnaire was developed and piloted extensively to support FHH data gathering at each clinic site. It included questions about physicians’ demographics, FHH collection patterns, FHH data types, timing of FHH data collection, and documentation patterns across different roles. The survey focused on highly prevalent cancers with hereditary risk for which there are actionable recommendations from evidence-based genetic screening guidelines based on FHH. The questionnaire is provided in Supplementary Appendix SA. In phase 2, semi-structured interviews were conducted and digitally recorded to gain more insight about providers’ attitudes toward and practices with FHH. Interview design was based on the findings of the phase 1 survey. Interview questions are listed in Supplementary Appendix SB. Procedures In phase 1, each clinic was visited by the research group (3–6 individuals) for approximately 2 h. Providers and staff were approached individually with the goal of achieving a high response rate with the minimal amount of burden. Phase 1 questionnaires were administered orally with responses recorded on paper, taking roughly 5–10 min. Phase 2 interviews were conducted on a clinic-by-clinic basis, as was done in phase 1. Interviews took 15 min and were digitally recorded and transcribed by a private transcription service. Analysis Phase 1 questionnaire responses were recorded in Microsoft Excel. Phase 2 analysis of the semi-structured interview transcripts used an inductive process to developing a coding protocol as recommended by Patton (2002).31 Two investigators independently coded each transcript using an initial set of categories derived from phase 1 surveys. These categories related to value of FHH, timing of collection, usefulness, decision-making responsibilities, and methods of documentation. A trained anthropologist applied codes to quotations following procedures recommended by Patton.31 The group met, reread the transcripts, discussed the final coding scheme, and then organized quotations in Atlas.ti. The resulting codebook can be found in Supplementary Appendix SC. To maintain rigor and validity, 4 features of trustworthiness were given careful attention. First, a third party reviewed the coding to ensure confirmability. Second, findings across sites were examined for consistency to ensure transferability. Third, credibility of findings was checked by verification of analysis with clinicians on the research team. Fourth, the study sought to ensure dependability of findings through thorough documentation of the research process and analytical tools used.32,33 RESULTS The study produced 2 sets of results: (1) survey results regarding workflow patterns and (2) qualitative themes derived from semi-structured interviews. Both sets of results are discussed below. Survey results: practice and workflow patterns Table 1 summarizes results of the provider questionnaire and is divided into 4 parts: FHH collection methods, timing, location, and relationship with genetic services. Part A presents the method of FHH data collection reported by providers. One clinic (n = 6 providers) reported mailing patients a form to fill out prior to their visit. MAs would then scan the form and store as a PDF file or enter data directly into the FHH section of the EHR, either before or after the provider reviewed it. Providers across all clinics reported occasionally reviewing data collected by patients through MyChart® (UUH’s patient-facing portal). This practice is increasing. Some providers also reported entering data themselves after reviewing the paper form or FHH data from MyChart. Table 1. Provider survey responses regarding method and timing of FHH collection, documentation location in the EHR, and relationship with genetic servicesa A. Method of FHH collection . # (%) .  Prior to visit with a paper form, scanned or entered manually by MA (n = 36) 6 (17)  Entered prior by patient into MyChart (n = 36) 4 (11)  Collected by MA at intake (n = 36) 29 (70)  Collected by provider only during visit (n = 36) 10 (17) B. Timing of FHH collectionb  Never or rarely at any visit (n = 37) 10 (27)  At first and annual, rarely at acute visits (n = 37) 2 (5)  Every acute visit (n = 37) 23 (62) C. FHH documentation location  FHH module in EHR 39 (100)  Document in problem list (n = 29) 22 (76)  Document in progress notes (n = 37) 7 (26) D. Relationship with genetic services  Likely to refer to geneticists (n = 38) 35 (92)  Prefer to be notified of patients’ genetic risks (n = 27) 26 (90) A. Method of FHH collection . # (%) .  Prior to visit with a paper form, scanned or entered manually by MA (n = 36) 6 (17)  Entered prior by patient into MyChart (n = 36) 4 (11)  Collected by MA at intake (n = 36) 29 (70)  Collected by provider only during visit (n = 36) 10 (17) B. Timing of FHH collectionb  Never or rarely at any visit (n = 37) 10 (27)  At first and annual, rarely at acute visits (n = 37) 2 (5)  Every acute visit (n = 37) 23 (62) C. FHH documentation location  FHH module in EHR 39 (100)  Document in problem list (n = 29) 22 (76)  Document in progress notes (n = 37) 7 (26) D. Relationship with genetic services  Likely to refer to geneticists (n = 38) 35 (92)  Prefer to be notified of patients’ genetic risks (n = 27) 26 (90) Abbreviations: EHR: electronic health record; FHH: family health history; MA: medical assistant. a Parts A, C, and D of the table report results for questions in which providers were asked to check all responses that applied to them. b Part B does not sum to 100% due to incomplete survey responses. Open in new tab Table 1. Provider survey responses regarding method and timing of FHH collection, documentation location in the EHR, and relationship with genetic servicesa A. Method of FHH collection . # (%) .  Prior to visit with a paper form, scanned or entered manually by MA (n = 36) 6 (17)  Entered prior by patient into MyChart (n = 36) 4 (11)  Collected by MA at intake (n = 36) 29 (70)  Collected by provider only during visit (n = 36) 10 (17) B. Timing of FHH collectionb  Never or rarely at any visit (n = 37) 10 (27)  At first and annual, rarely at acute visits (n = 37) 2 (5)  Every acute visit (n = 37) 23 (62) C. FHH documentation location  FHH module in EHR 39 (100)  Document in problem list (n = 29) 22 (76)  Document in progress notes (n = 37) 7 (26) D. Relationship with genetic services  Likely to refer to geneticists (n = 38) 35 (92)  Prefer to be notified of patients’ genetic risks (n = 27) 26 (90) A. Method of FHH collection . # (%) .  Prior to visit with a paper form, scanned or entered manually by MA (n = 36) 6 (17)  Entered prior by patient into MyChart (n = 36) 4 (11)  Collected by MA at intake (n = 36) 29 (70)  Collected by provider only during visit (n = 36) 10 (17) B. Timing of FHH collectionb  Never or rarely at any visit (n = 37) 10 (27)  At first and annual, rarely at acute visits (n = 37) 2 (5)  Every acute visit (n = 37) 23 (62) C. FHH documentation location  FHH module in EHR 39 (100)  Document in problem list (n = 29) 22 (76)  Document in progress notes (n = 37) 7 (26) D. Relationship with genetic services  Likely to refer to geneticists (n = 38) 35 (92)  Prefer to be notified of patients’ genetic risks (n = 27) 26 (90) Abbreviations: EHR: electronic health record; FHH: family health history; MA: medical assistant. a Parts A, C, and D of the table report results for questions in which providers were asked to check all responses that applied to them. b Part B does not sum to 100% due to incomplete survey responses. Open in new tab Part B presents the timing of FHH collection. We identified 3 distinct patterns. First, some providers reported that they do not collect FHH systematically at any of their visits. Rather, they assess FHH only if it is highly relevant to the reason for visit. Second, some providers reported regularly collecting FHH data at the first visit and at the annual regular check-ups, but not at any other acute care visits. A final group of providers reported reviewing FHH at every visit, if only as a matter of routine. Part C reports where providers record or document FHH data. Most providers turned to the EHR’s dedicated FHH module to review. However, many providers entered FHH in the EHR’s problem list to prompt themselves to review it, or in progress notes to prompt discussion with the patient. This issue is examined in greater depth in Theme 2 of the qualitative results. Part D presents findings related to providers’ referral patterns with genetic services. The vast majority of providers expressed a willingness to refer to genetic services, and a desire to receive feedback regarding their patients’ genetic risk factors. The specific type of FHH data collected varied less. If FHH was collected at all, providers and MAs consistently documented all cancers covered in our survey. The majority of providers reported “always” taking family histories of breast, colon, and ovarian cancers from their patients (see Figure 1). In general, providers completed the default list of diseases provided in the FHH module unless they worked in a specific specialty. Figure 1. Open in new tabDownload slide Provider-reported frequency of family health history collection by cancer type. Figure 1. Open in new tabDownload slide Provider-reported frequency of family health history collection by cancer type. Qualitative interview themes Three themes emerged related to provider engagement with FHH in their typical clinical practice: (1) Strategies for collecting FHH vary by level of effort; (2) Documentation practices extend beyond the EHR’s dedicated FHH module; and (3) Providers desire feedback from genetic services consultation and are uncertain how to refer patients to genetic services. The 3 themes are discussed below. Theme 1: Strategies for collecting FHH vary by level of effort Physicians must intentionally process FHH in the way they see as most efficient amidst a busy clinical workload. This study identified 3 different strategies referenced by providers in dealing with FHH: (a) “bare minimum” engagement with FHH collection until presentation of symptoms; (b) “active review” of FHH; and (c) “integration into care processes.” These different strategies are ranked in terms of the effort that they demand from a provider. 1a. Bare minimum: Because MAs usually collected FHH at the beginning of the visit or from paper forms brought in by the patient and entered it into a dedicated section of the EHR as a routine part of patient intake, providers may never look at the resultant data unless they believe there is a need. More typically, providers used what this study referred to as a “bare minimum” strategy for collecting FHH. This characteristically involved reviewing FHH on a first visit, probing primarily for high prevalence diseases with genetic risk factors (see Table 2, quotations 1 and 2). Table 2. Illustrative quotations for qualitative theme (1) Strategies for collecting FHH vary by level of effort Quotation no. . Quotation . Qualitative subtheme . 1 So, the way it works here is most of the family history is collected by the medical assistants before the providers even see the patient… We need to know about the cardiac history, stroke, diabetes, cancer. That's my approach to things. I could spend all day in the visit trying to gather the sort of intricacies of family history 1a. Bare minimum 2 Well, usually, I ask about cancer diagnoses and cardiovascular diseases. Those are the two major areas that I want to know about and screen for and then I ask about other family illnesses or diseases that they want me to list 3 For example, [the quoted provider uses FHH] if a patient wanted to know whether to aggressively treat blood pressure or cholesterol, family history can sometimes help 4 So, on an initial patient encounter, we have a health history that the patients fill out. So there's a section for family health history that goes through their immediate relatives… So the MA will often put it in [to the EHR], but I will also go back through using, specifically when it's a new patient, the form that we have, and if it's not in there then I will put it in myself. 1b. Active review 5 I just ask the patient directly, like during the initial history-taking. When a new patient comes, we usually collect family history. Even if it is already available in the [EHR], we always ask because maybe there's missing information, and then I enter it on the family history. I ask first-degree relative, that's very important. And sometimes if there is familial genetic diseases, I would also ask second degree 6 I do a lot of consultations for thrombosis, almost all new patients that are consultations, so I put the text of the family history that I think is pertinent into the note body itself 1c. Integration into care processes Quotation no. . Quotation . Qualitative subtheme . 1 So, the way it works here is most of the family history is collected by the medical assistants before the providers even see the patient… We need to know about the cardiac history, stroke, diabetes, cancer. That's my approach to things. I could spend all day in the visit trying to gather the sort of intricacies of family history 1a. Bare minimum 2 Well, usually, I ask about cancer diagnoses and cardiovascular diseases. Those are the two major areas that I want to know about and screen for and then I ask about other family illnesses or diseases that they want me to list 3 For example, [the quoted provider uses FHH] if a patient wanted to know whether to aggressively treat blood pressure or cholesterol, family history can sometimes help 4 So, on an initial patient encounter, we have a health history that the patients fill out. So there's a section for family health history that goes through their immediate relatives… So the MA will often put it in [to the EHR], but I will also go back through using, specifically when it's a new patient, the form that we have, and if it's not in there then I will put it in myself. 1b. Active review 5 I just ask the patient directly, like during the initial history-taking. When a new patient comes, we usually collect family history. Even if it is already available in the [EHR], we always ask because maybe there's missing information, and then I enter it on the family history. I ask first-degree relative, that's very important. And sometimes if there is familial genetic diseases, I would also ask second degree 6 I do a lot of consultations for thrombosis, almost all new patients that are consultations, so I put the text of the family history that I think is pertinent into the note body itself 1c. Integration into care processes Abbreviations: EHR: electronic health record; FHH: family health history; MA: medical assistant. Open in new tab Table 2. Illustrative quotations for qualitative theme (1) Strategies for collecting FHH vary by level of effort Quotation no. . Quotation . Qualitative subtheme . 1 So, the way it works here is most of the family history is collected by the medical assistants before the providers even see the patient… We need to know about the cardiac history, stroke, diabetes, cancer. That's my approach to things. I could spend all day in the visit trying to gather the sort of intricacies of family history 1a. Bare minimum 2 Well, usually, I ask about cancer diagnoses and cardiovascular diseases. Those are the two major areas that I want to know about and screen for and then I ask about other family illnesses or diseases that they want me to list 3 For example, [the quoted provider uses FHH] if a patient wanted to know whether to aggressively treat blood pressure or cholesterol, family history can sometimes help 4 So, on an initial patient encounter, we have a health history that the patients fill out. So there's a section for family health history that goes through their immediate relatives… So the MA will often put it in [to the EHR], but I will also go back through using, specifically when it's a new patient, the form that we have, and if it's not in there then I will put it in myself. 1b. Active review 5 I just ask the patient directly, like during the initial history-taking. When a new patient comes, we usually collect family history. Even if it is already available in the [EHR], we always ask because maybe there's missing information, and then I enter it on the family history. I ask first-degree relative, that's very important. And sometimes if there is familial genetic diseases, I would also ask second degree 6 I do a lot of consultations for thrombosis, almost all new patients that are consultations, so I put the text of the family history that I think is pertinent into the note body itself 1c. Integration into care processes Quotation no. . Quotation . Qualitative subtheme . 1 So, the way it works here is most of the family history is collected by the medical assistants before the providers even see the patient… We need to know about the cardiac history, stroke, diabetes, cancer. That's my approach to things. I could spend all day in the visit trying to gather the sort of intricacies of family history 1a. Bare minimum 2 Well, usually, I ask about cancer diagnoses and cardiovascular diseases. Those are the two major areas that I want to know about and screen for and then I ask about other family illnesses or diseases that they want me to list 3 For example, [the quoted provider uses FHH] if a patient wanted to know whether to aggressively treat blood pressure or cholesterol, family history can sometimes help 4 So, on an initial patient encounter, we have a health history that the patients fill out. So there's a section for family health history that goes through their immediate relatives… So the MA will often put it in [to the EHR], but I will also go back through using, specifically when it's a new patient, the form that we have, and if it's not in there then I will put it in myself. 1b. Active review 5 I just ask the patient directly, like during the initial history-taking. When a new patient comes, we usually collect family history. Even if it is already available in the [EHR], we always ask because maybe there's missing information, and then I enter it on the family history. I ask first-degree relative, that's very important. And sometimes if there is familial genetic diseases, I would also ask second degree 6 I do a lot of consultations for thrombosis, almost all new patients that are consultations, so I put the text of the family history that I think is pertinent into the note body itself 1c. Integration into care processes Abbreviations: EHR: electronic health record; FHH: family health history; MA: medical assistant. Open in new tab Pursuing this strategy is likely to involve probing patients for further information about FHH only when prompted by a patient’s complaint or when that complaint seems symptomatic of a disease with well-known genetic risk factors. Probing involves considerable time and effort (see Table 2, quotation 3). Thus the “bare minimum” engagement strategy involves little reference to FHH after its collection on an initial visit. Future attention would require an update by the patient on subsequent visits or be triggered by a complaint. This pattern was also observed during the formal survey (about 25%, as noted in Table 1). 1b. Active review: A second strategy of “active review” was referenced by a number of physicians, focused on reviewing FHH in the EHR for its thoroughness and accuracy as part of the new patient or annual visits. In this case, FHH would be a “topic heading” in a visit and formally addressed during visits. Providers using this strategy deliberately revised or checked the thoroughness of data entered by MAs (see Table 2, quotations 4 and 5). 1c. Integration into care processes: The third strategy of “integration into care processes” was used in a much more limited fashion among the interviewed providers. It involved more labor- and time-intensive efforts to incorporate FHH into treatment plans for patients for whom this information was likely to be particularly valuable. Providers reported recommending that patients make additional efforts to collect FHH, for example, by collecting FHH from family members. Some providers described actively seeking out FHH for patients with diseases with known genetic risk factors and incorporating relevant details into the patient’s record beyond the FHH module during preparation for a visit (see Table 2, quotation 6). Theme 2: Documentation practices extend beyond the EHR’s dedicated FHH module While the EHR used by UUH (Epic®) has a dedicated FHH module, documenting FHH outside of that module was a commonly reported practice among the interviewed providers. Some providers reported documenting FHH directly into their notes when updating a patient’s information without using the FHH module (see Table 3, quotation 1). Others described deliberately moving FHH collected by MAs in the dedicated FHH module into their problem list or note (see Table 3, quotation 2). Table 3. Illustrative quotations for qualitative theme (2) Documentation practices extend beyond the EHR’s dedicated family health history module Quotation no. . Quotation . 1 [T]here may be times when I do get some sort of history, and I don't end up documenting it in the family history. I'll document it in my note, but sometimes it doesn't get translated to the family history 2 [I]f there's a family history of something that's going to affect what I'm ordering, then it goes on to the problem list 3 I don't particularly love the way it's set up in [the EHR], because it's tedious to go back to the rooming section and I don't feel like that translates very well to the clinic visit, because that's not part of what we do as providers. Going back in that section very often, those are much more extra steps 4 Me going through trying to find specific cancers can be sort of daunting. Again, takes a lot of time, right? 5 I would just say like… maybe not all the cancers are listed. If I want to say ‘melanoma’, sometimes I cannot put that. I have to put the ‘cancer, skin’. And then next to it on the free texting, I would put ‘melanoma’, for example Quotation no. . Quotation . 1 [T]here may be times when I do get some sort of history, and I don't end up documenting it in the family history. I'll document it in my note, but sometimes it doesn't get translated to the family history 2 [I]f there's a family history of something that's going to affect what I'm ordering, then it goes on to the problem list 3 I don't particularly love the way it's set up in [the EHR], because it's tedious to go back to the rooming section and I don't feel like that translates very well to the clinic visit, because that's not part of what we do as providers. Going back in that section very often, those are much more extra steps 4 Me going through trying to find specific cancers can be sort of daunting. Again, takes a lot of time, right? 5 I would just say like… maybe not all the cancers are listed. If I want to say ‘melanoma’, sometimes I cannot put that. I have to put the ‘cancer, skin’. And then next to it on the free texting, I would put ‘melanoma’, for example Abbreviation: EHR: electronic health record. Open in new tab Table 3. Illustrative quotations for qualitative theme (2) Documentation practices extend beyond the EHR’s dedicated family health history module Quotation no. . Quotation . 1 [T]here may be times when I do get some sort of history, and I don't end up documenting it in the family history. I'll document it in my note, but sometimes it doesn't get translated to the family history 2 [I]f there's a family history of something that's going to affect what I'm ordering, then it goes on to the problem list 3 I don't particularly love the way it's set up in [the EHR], because it's tedious to go back to the rooming section and I don't feel like that translates very well to the clinic visit, because that's not part of what we do as providers. Going back in that section very often, those are much more extra steps 4 Me going through trying to find specific cancers can be sort of daunting. Again, takes a lot of time, right? 5 I would just say like… maybe not all the cancers are listed. If I want to say ‘melanoma’, sometimes I cannot put that. I have to put the ‘cancer, skin’. And then next to it on the free texting, I would put ‘melanoma’, for example Quotation no. . Quotation . 1 [T]here may be times when I do get some sort of history, and I don't end up documenting it in the family history. I'll document it in my note, but sometimes it doesn't get translated to the family history 2 [I]f there's a family history of something that's going to affect what I'm ordering, then it goes on to the problem list 3 I don't particularly love the way it's set up in [the EHR], because it's tedious to go back to the rooming section and I don't feel like that translates very well to the clinic visit, because that's not part of what we do as providers. Going back in that section very often, those are much more extra steps 4 Me going through trying to find specific cancers can be sort of daunting. Again, takes a lot of time, right? 5 I would just say like… maybe not all the cancers are listed. If I want to say ‘melanoma’, sometimes I cannot put that. I have to put the ‘cancer, skin’. And then next to it on the free texting, I would put ‘melanoma’, for example Abbreviation: EHR: electronic health record. Open in new tab Providers gave a number of different reasons for their preference for having FHH somewhere other than the dedicated module. FHH is accessible from a different section of the EHR than the one typically used by providers during their visits with a patient, requiring providers to navigate through the software to that section, involving additional effort and clicks. Providers mentioned the insertion of FHH into problem lists or progress notes as a mechanism to remind them to conduct a follow-up, to organize their information gathering, or to monitor progress. One provider observed the poor match between EHR design and clinical workflow (see Table 3, quotation 3). The FHH module was also seen as visually cluttered and difficult to use (see Table 3, quotation 4). Finally, providers cited limitations with the diagnoses available in menus within the FHH section of the EHR, requiring them to input structured data and free text simultaneously (see Table 3 quotation 5). Theme 3: Providers desire feedback from genetic services consultation and are uncertain how to refer patients to genetic services Referral to genetic services was typically triggered by presentation of a symptom of a disease with a genetic risk factor. Obstetricians explicitly mentioned referring in the case of pregnancy. All providers who had referred patients for genetic services expressed a desire for more and higher quality information to be returned from the consult. Genetic services were viewed positively and believed to impact treatment or surveillance. However, uncertainty about how to order such a consult within the EHR or how to communicate well with geneticists resulted in some reluctance to move ahead with a referral. Some providers who referred patients for genetic services indicated a desire for more guidance regarding which patients to refer, particularly for less common cancers (see Table 4, quotation 12). Table 4. Illustrative quotations for qualitative theme (3) Providers desire feedback from genetic services consultation and are uncertain how to refer patients to genetic services Quotation no. . Quotation . 12 I'm still not comfortable over the optimal kind of patient to refer. Right now, where are you going to get the most bang for your buck? [We need] referral guidelines. What about pancreatic cancer? Well, I don't know anything. But with colon, breast, ovarian, I get 13 It's not even on any of our radar. Just because it's difficult, for one, to navigate, how to get a patient to that testing, [and then, additionally] cost, does insurance pay for it, is it accurate, what's the evidence on it? That all right now is sort of—we don't have a lot of current sort of standard of care, right? It would not be the standard of care, currently Quotation no. . Quotation . 12 I'm still not comfortable over the optimal kind of patient to refer. Right now, where are you going to get the most bang for your buck? [We need] referral guidelines. What about pancreatic cancer? Well, I don't know anything. But with colon, breast, ovarian, I get 13 It's not even on any of our radar. Just because it's difficult, for one, to navigate, how to get a patient to that testing, [and then, additionally] cost, does insurance pay for it, is it accurate, what's the evidence on it? That all right now is sort of—we don't have a lot of current sort of standard of care, right? It would not be the standard of care, currently Open in new tab Table 4. Illustrative quotations for qualitative theme (3) Providers desire feedback from genetic services consultation and are uncertain how to refer patients to genetic services Quotation no. . Quotation . 12 I'm still not comfortable over the optimal kind of patient to refer. Right now, where are you going to get the most bang for your buck? [We need] referral guidelines. What about pancreatic cancer? Well, I don't know anything. But with colon, breast, ovarian, I get 13 It's not even on any of our radar. Just because it's difficult, for one, to navigate, how to get a patient to that testing, [and then, additionally] cost, does insurance pay for it, is it accurate, what's the evidence on it? That all right now is sort of—we don't have a lot of current sort of standard of care, right? It would not be the standard of care, currently Quotation no. . Quotation . 12 I'm still not comfortable over the optimal kind of patient to refer. Right now, where are you going to get the most bang for your buck? [We need] referral guidelines. What about pancreatic cancer? Well, I don't know anything. But with colon, breast, ovarian, I get 13 It's not even on any of our radar. Just because it's difficult, for one, to navigate, how to get a patient to that testing, [and then, additionally] cost, does insurance pay for it, is it accurate, what's the evidence on it? That all right now is sort of—we don't have a lot of current sort of standard of care, right? It would not be the standard of care, currently Open in new tab Finally, providers also indicated lack of clarity regarding how to interpret or use the results of genetic screening in their clinical practice. For example, 1 provider indicated an unwillingness to use genetic services to identify genetic bases for treatment ineffectiveness (see Table 4, quotation 13). DISCUSSION The diversity of providers’ approaches to FHH identified in our survey and qualitative results reflects the intrinsic complexity of integrating FHH into practice. Informatics tools like the EHR’s FHH module appear to be gaining adoption, in that more patients are being assessed at their initial visit.34 Workflow patterns we identified include paper forms completed by patients, MyChart data completed by patients, data input by MAs, and direct data input by physicians. The patterns are diverse across clinics (though more homogeneous within clinics), suggesting a struggle to find an “easy path” for inputting FHH data, even with a dedicated EHR module. The “bare minimum” FHH collection strategy by clinicians is significant because it suggests that some providers are skeptical of how useful FHH information is for regular patient care. In contrast to some existing work,24 this study found that providers were supportive of collecting FHH history, but several were skeptical of how this information would be useful in direct clinical care when there was no related illness or symptom. Physicians commonly appear to use heuristics to engage with FHH such that family histories of diseases with well-known genetic risk factors are the primary or only trigger for collecting further information. In other words, FHH is routinely collected on common diseases with little differentiation based on clinical practice domain, the relative importance of genetic history (eg, ovarian cancer should require immediate genetic counseling), patient’s racial background, or other family history. Both the survey and interview results of our study indicate providers’ practices for collecting and using FHH are not fully supported by the existing software. Design limitations are visible in the diversity of patterns of use. The FHH module is difficult to access and does not support easy coordination with genetic services. Moreover, it provides little support for making complex decisions, such as referral or patient education. The observed lack of integration of suitable decision support tools for FHH in the EHR may impede accurate FHH collection and result in underutilization of FHH by primary care providers.35 The system itself does not link to progress notes or the problem list, and therefore is suboptimal as a documentation tool that can be integrated into care. As it stands, users currently engage in a mix of free-text and structured data entry, but do not benefit from the clinical decision support (CDS) that structured data should theoretically support. Some research has evaluated user satisfaction with FHH EHR modules and shown positive ratings (eg, Wu et al).36 Yet, assessments have been limited to satisfaction with documentation usability of the systems, with limited focus on the degree to which decisions are supported.8 Zazove et al37 reported a study that provided electronic alerts for patients at risk and showed no change in behavior. Increasing direct patient input via a patient portal and using MAs more may help with workflow burden. Identifying and contacting at-risk patients through automatic EHR screening (as is being investigated in the larger study supporting this work) will help providers to use FHH. Our findings converge with many existing studies showing the difficulties in collecting and acting on FHH.7,17,19,22,34 As new genomic technologies become available, it is expected that an increase in novel pathogenic variants previously not identified will be discovered. Knowing more about the linkage between these new germline pathogenic variants and FHH may help to identify new cancer syndromes linked to patterns of specific cancer diagnoses in families. This knowledge will increase the clinician’s ability to identify at-risk family members prior to diagnosis. As a result, FHH screening has the potential to become more targeted. Designing tools that can keep pace with these changes is a significant challenge. It is hoped that lowering the barriers to user adoption will lead to more targeted decision support that minimizes over-diagnosis and interruption to workflow as the recognition of previously undiagnosed hereditary cancer syndromes increases. As always, there will be a small but measurable risk of over-diagnosing based on clinical data. This is why we suggest that presumed hereditary syndromes should always be confirmed with Clinical Laboratory Improvement Act-compliant genetic tests. To date, the limited work on FHH-based CDS for personalized medicine has been focused primarily on standalone tools.17,38–40 Meeting the high bar of 3 generation pedigrees that are desirable from an oncological perspective will require careful workflow considerations, including EHR integration, as well as better documentation tools, including tools that engage the patient in the process. Integrating patient-entered FHH collected via EHR-integrated questionnaires prior to visits may improve FHH accuracy (as patients have time to ask their relatives for needed information), optimize the use of time during clinic visits, and decrease provider documentation time.19 While some healthcare settings, including UUH, already employ patient-facing tools with promising results,25,41,42 this remains an emerging area that should be informed by detailed research on extant provider practices.17,19,43 We suggest that the design of standards for FHH collection will be central to making FHH usable for clinicians. Automated screening algorithms, such as those designed by the larger project supporting this research, will likely play a role in reducing over-diagnosis and efficiently targeting high-risk patients.20 Limitations This study did not compare provider accounts of FHH documentation and module use with EHR data, although our interview data indicate that a narrow focus on FHH module use would miss much provider engagement with FHH data.44 Additionally, the study used a convenience sample of providers in one health system who use one EHR in their daily practice. As such, study results may not generalize to all healthcare settings, specialties, and EHR systems. Furthermore, the study did not explicitly prompt providers to address all avenues for inputting FHH into the EHR (eg, patient-entered data, clinical notes) or other types of information relevant for the assessment of heritable disease, focusing instead on structured and free text input through a dedicated FHH section. Nevertheless, the study provides a detailed analysis of existing behaviors and attitudes around FHH data collection and use that can inform future tool design to more accurately capture and more effectively use FHH. CONCLUSION This study demonstrates that the availability of FHH documentation tools is not sufficient to ensure effective use of that information to support clinical decision-making. The significant variability in the types of information gathered by providers, their strategies for collecting FHH, their use of the EHR to document FHH, and their attitudes or concerns about referring patients for genetics services indicate that FHH modules need more integration. All of these themes suggest the need to rethink and redesign FHH documentation tools within the EHR and to improve coordination between genetic services and primary care providers. Improved FHH tools may facilitate better access to cancer genetics providers for appropriate testing, the extension of care to additional family members, and timely initiation of surveillance and treatment strategies.29,45,46 FUNDING This work was supported by grant number 1 U24 CA204800-01 from the National Cancer Institutes of Health. PT is supported as a VA Office of Academic Affiliations Post-Doctoral Fellow in Medical Informatics at the VA Salt Lake City Health Care System. The contents of this article do not represent the views of the Department of Veterans Affairs or the United States Government. AUTHOR CONTRIBUTIONS PT: Data collection, writing, editing, qualitative interview design, coding, and analysis. PG: Data collection, qualitative interview design, coding, and analysis. JDS: Study design, analysis, and manuscript review. WK: Study design, analysis, and manuscript review. RH: Study design, analysis, and manuscript review. 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Google Scholar Crossref Search ADS PubMed WorldCat Published by Oxford University Press on behalf of the American Medical Informatics Association 2020. This work is written by US Government employees and is in the public domain in the US. This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)
TI - Physicians’ strategies for using family history data: having the data is not the same as using the data
JO - JAMIA Open
DO - 10.1093/jamiaopen/ooaa035
DA - 2020-10-01
UR - https://www.deepdyve.com/lp/oxford-university-press/physicians-strategies-for-using-family-history-data-having-the-data-is-sNmcB7l0DE
SP - 378
EP - 385
VL - 3
IS - 3
DP - DeepDyve
ER -