Browsing by Author "Orlando, Lori A"
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Item Open Access Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network.(BMC Med Genomics, 2017-05-22) Sperber, Nina R; Carpenter, Janet S; Cavallari, Larisa H; J Damschroder, Laura; Cooper-DeHoff, Rhonda M; Denny, Joshua C; Ginsburg, Geoffrey S; Guan, Yue; Horowitz, Carol R; Levy, Kenneth D; Levy, Mia A; Madden, Ebony B; Matheny, Michael E; Pollin, Toni I; Pratt, Victoria M; Rosenman, Marc; Voils, Corrine I; W Weitzel, Kristen; Wilke, Russell A; Ryanne Wu, R; Orlando, Lori ABACKGROUND: To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthesize data on challenges identified by six diverse projects that are part of a National Human Genome Research Institute (NHGRI)-funded network focused on implementing genomics into practice and strategies to overcome these challenges. METHODS: We used a multiple-case study approach with each project considered as a case and qualitative methods to elicit and describe themes related to implementation challenges and strategies. We describe challenges and strategies in an implementation framework and typology to enable consistent definitions and cross-case comparisons. Strategies were linked to challenges based on expert review and shared themes. RESULTS: Three challenges were identified by all six projects, and strategies to address these challenges varied across the projects. One common challenge was to increase the relative priority of integrating genomics within the health system electronic health record (EHR). Four projects used data warehousing techniques to accomplish the integration. The second common challenge was to strengthen clinicians' knowledge and beliefs about genomic medicine. To overcome this challenge, all projects developed educational materials and conducted meetings and outreach focused on genomic education for clinicians. The third challenge was engaging patients in the genomic medicine projects. Strategies to overcome this challenge included use of mass media to spread the word, actively involving patients in implementation (e.g., a patient advisory board), and preparing patients to be active participants in their healthcare decisions. CONCLUSIONS: This is the first collaborative evaluation focusing on the description of genomic medicine innovations implemented in multiple real-world clinical settings. Findings suggest that strategies to facilitate integration of genomic data within existing EHRs and educate stakeholders about the value of genomic services are considered important for effective implementation. Future work could build on these findings to evaluate which strategies are optimal under what conditions. This information will be useful for guiding translation of discoveries to clinical care, which, in turn, can provide data to inform continual improvement of genomic innovations and their applications.Item Open Access Clinical implementation of an oncology-specific family health history risk assessment tool.(Hereditary cancer in clinical practice, 2021-03-20) Fung, Si Ming; Wu, R Ryanne; Myers, Rachel A; Goh, Jasper; Ginsburg, Geoffrey S; Matchar, David; Orlando, Lori A; Ngeow, JoanneBackground
The presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of hereditary cancer syndromes in routine practice. This paper describes the impact of using a patient-facing family health history risk assessment platform on the identification and referral of breast cancer patients to genetic counselling services.Methods
This was a hybrid implementation-effectiveness study completed in breast cancer clinics. English-literate patients not previously referred for genetic counselling and/or gone through genetic testing were offered enrollment. Consented participants were provided educational materials on family health history collection, entered their family health history into the platform and completed a satisfaction survey. Upon completion, participants and their clinicians were given personalized risk reports. Chart abstraction was done to identify actions taken by patients, providers and genetic counsellors.Results
Of 195 patients approached, 102 consented and completed the study (mean age 55.7, 100 % women). Sixty-six (65 %) met guideline criteria for genetic counseling of which 24 (36 %) were referred for genetic counseling. Of those referred, 13 (54 %) participants attended and eight (33 %) completed genetic testing. On multivariate logistic regression, referral was not associated with age, cancer stage, or race but was associated with clinical provider (p = 0.041). Most providers (71 %) had higher referral rates during the study compared to prior. The majority of participants found the experience useful (84 %), were more aware of their health risks (83 %), and were likely to recommend using a patient-facing platform to others (69 %).Conclusions
65 % of patients attending breast cancer clinics in this study are at-risk for hereditary conditions based on current guidelines. Using a patient-facing risk assessment platform enhances the ability to identify these patients systematically and with widespread acceptability and recognized value by patients. As only a third of at-risk participants received referrals for genetic counseling, further understanding barriers to referral is needed to optimize hereditary risk assessment in oncology practices.Trial registration
NIH Clinical Trials registry, NCT04639934 . Registered Nov 23, 2020 -- Retrospectively registered.Item Open Access Clinical utility of a Web-enabled risk-assessment and clinical decision support program.(Genet Med, 2016-10) Orlando, Lori A; Wu, R Ryanne; Myers, Rachel A; Buchanan, Adam H; Henrich, Vincent C; Hauser, Elizabeth R; Ginsburg, Geoffrey SPURPOSE: Risk-stratified guidelines can improve quality of care and cost-effectiveness, but their uptake in primary care has been limited. MeTree, a Web-based, patient-facing risk-assessment and clinical decision support tool, is designed to facilitate uptake of risk-stratified guidelines. METHODS: A hybrid implementation-effectiveness trial of three clinics (two intervention, one control). PARTICIPANTS: consentable nonadopted adults with upcoming appointments. PRIMARY OUTCOME: agreement between patient risk level and risk management for those meeting evidence-based criteria for increased-risk risk-management strategies (increased risk) and those who do not (average risk) before MeTree and after. MEASURES: chart abstraction was used to identify risk management related to colon, breast, and ovarian cancer, hereditary cancer, and thrombosis. RESULTS: Participants = 488, female = 284 (58.2%), white = 411 (85.7%), mean age = 58.7 (SD = 12.3). Agreement between risk management and risk level for all conditions for each participant, except for colon cancer, which was limited to those <50 years of age, was (i) 1.1% (N = 2/174) for the increased-risk group before MeTree and 16.1% (N = 28/174) after and (ii) 99.2% (N = 2,125/2,142) for the average-risk group before MeTree and 99.5% (N = 2,131/2,142) after. Of those receiving increased-risk risk-management strategies at baseline, 10.5% (N = 2/19) met criteria for increased risk. After MeTree, 80.7% (N = 46/57) met criteria. CONCLUSION: MeTree integration into primary care can improve uptake of risk-stratified guidelines and potentially reduce "overuse" and "underuse" of increased-risk services.Genet Med 18 10, 1020-1028.Item Open Access Cost-effectiveness analysis of the diagnosis of meniscus tears.(Am J Sports Med, 2015-01) Mather, Richard C; Garrett, William E; Cole, Brian J; Hussey, Kristen; Bolognesi, Michael P; Lassiter, Tally; Orlando, Lori ABACKGROUND: Diagnostic imaging represents the fastest growing segment of costs in the US health system. This study investigated the cost-effectiveness of alternative diagnostic approaches to meniscus tears of the knee, a highly prevalent disease that traditionally relies on MRI as part of the diagnostic strategy. PURPOSE: To identify the most efficient strategy for the diagnosis of meniscus tears. STUDY DESIGN: Economic and decision analysis; Level of evidence, 1. METHODS: A simple-decision model run as a cost-utility analysis was constructed to assess the value added by MRI in various combinations with patient history and physical examination (H&P). The model examined traumatic and degenerative tears in 2 distinct settings: primary care and orthopaedic sports medicine clinic. Strategies were compared using the incremental cost-effectiveness ratio (ICER). RESULTS: In both practice settings, H&P alone was widely preferred for degenerative meniscus tears. Performing MRI to confirm a positive H&P was preferred for traumatic tears in both practice settings, with a willingness to pay of less than US$50,000 per quality-adjusted life-year. Performing an MRI for all patients was not preferred in any reasonable clinical scenario. The prevalence of a meniscus tear in a clinician's patient population was influential. For traumatic tears, MRI to confirm a positive H&P was preferred when prevalence was less than 46.7%, with H&P preferred above that. For degenerative tears, H&P was preferred until the prevalence reaches 74.2%, and then MRI to confirm a negative was the preferred strategy. In both settings, MRI to confirm positive physical examination led to more than a 10-fold lower rate of unnecessary surgeries than did any other strategy, while MRI to confirm negative physical examination led to a 2.08 and 2.26 higher rate than H&P alone in primary care and orthopaedic clinics, respectively. CONCLUSION: For all practitioners, H&P is the preferred strategy for the suspected degenerative meniscus tear. An MRI to confirm a positive H&P is preferred for traumatic tears for all practitioners. Consideration should be given to implementing alternative diagnostic strategies as well as enhancing provider education in physical examination skills to improve the reliability of H&P as a diagnostic test. CLINICAL RELEVANCE: Alternative diagnostic strategies that do not include the use of MRI may result in decreased health care costs without harm to the patient and could possibly reduce unnecessary procedures.Item Open Access Economic evaluation of access to musculoskeletal care: the case of waiting for total knee arthroplasty.(BMC Musculoskelet Disord, 2014-01-18) Mather, Richard C; Hug, Kevin T; Orlando, Lori A; Watters, Tyler Steven; Koenig, Lane; Nunley, Ryan M; Bolognesi, Michael PBACKGROUND: The projected demand for total knee arthroplasty is staggering. At its root, the solution involves increasing supply or decreasing demand. Other developed nations have used rationing and wait times to distribute this service. However, economic impact and cost-effectiveness of waiting for TKA is unknown. METHODS: A Markov decision model was constructed for a cost-utility analysis of three treatment strategies for end-stage knee osteoarthritis: 1) TKA without delay, 2) a waiting period with no non-operative treatment and 3) a non-operative treatment bridge during that waiting period in a cohort of 60 year-old patients. Outcome probabilities and effectiveness were derived from the literature. Costs were estimated from the societal perspective with national average Medicare reimbursement. Effectiveness was expressed in quality-adjusted life years (QALYs) gained. Principal outcome measures were average incremental costs, effectiveness, and quality-adjusted life years; and net health benefits. RESULTS: In the base case, a 2-year wait-time both with and without a non-operative treatment bridge resulted in a lower number of average QALYs gained (11.57 (no bridge) and 11.95 (bridge) vs. 12.14 (no delay). The average cost was $1,660 higher for TKA without delay than wait-time with no bridge, but $1,810 less than wait-time with non-operative bridge. The incremental cost-effectiveness ratio comparing wait-time with no bridge to TKA without delay was $2,901/QALY. When comparing TKA without delay to waiting with non-operative bridge, TKA without delay produced greater utility at a lower cost to society. CONCLUSIONS: TKA without delay is the preferred cost-effective treatment strategy when compared to a waiting for TKA without non-operative bridge. TKA without delay is cost saving when a non-operative bridge is used during the waiting period. As it is unlikely that patients waiting for TKA would not receive non-operative treatment, TKA without delay may be an overall cost-saving health care delivery strategy. Policies aimed at increasing the supply of TKA should be considered as savings exist that could indirectly fund those strategies.Item Open Access Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network.(Genetics in medicine : official journal of the American College of Medical Genetics, 2021-03-29) Ginsburg, Geoffrey S; Cavallari, Larisa H; Chakraborty, Hrishikesh; Cooper-DeHoff, Rhonda M; Dexter, Paul R; Eadon, Michael T; Ferket, Bart S; Horowitz, Carol R; Johnson, Julie A; Kannry, Joseph; Kucher, Natalie; Madden, Ebony B; Orlando, Lori A; Parker, Wanda; Peterson, Josh; Pratt, Victoria M; Rakhra-Burris, Tejinder K; Ramos, Michelle A; Skaar, Todd C; Sperber, Nina; Steen-Burrell, Kady-Ann; Van Driest, Sara L; Voora, Deepak; Wiisanen, Kristin; Winterstein, Almut G; Volpi, Simona; IGNITE PTNPurpose
A critical gap in the adoption of genomic medicine into medical practice is the need for the rigorous evaluation of the utility of genomic medicine interventions.Methods
The Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN) was formed in 2018 to measure the clinical utility and cost-effectiveness of genomic medicine interventions, to assess approaches for real-world application of genomic medicine in diverse clinical settings, and to produce generalizable knowledge on clinical trials using genomic interventions. Five clinical sites and a coordinating center evaluated trial proposals and developed working groups to enable their implementation.Results
Two pragmatic clinical trials (PCTs) have been initiated, one evaluating genetic risk APOL1 variants in African Americans in the management of their hypertension, and the other to evaluate the use of pharmacogenetic testing for medications to manage acute and chronic pain as well as depression.Conclusion
IGNITE PTN is a network that carries out PCTs in genomic medicine; it is focused on diversity and inclusion of underrepresented minority trial participants; it uses electronic health records and clinical decision support to deliver the interventions. IGNITE PTN will develop the evidence to support (or oppose) the adoption of genomic medicine interventions by patients, providers, and payers.Item Open Access Experience and Perceptions of a Family Health History Risk Assessment Tool among Multi-Ethnic Asian Breast Cancer Patients.(J Pers Med, 2021-10-19) Yoon, Sungwon; Goh, Hendra; Fung, Si Ming; Tang, Shihui; Matchar, David; Ginsburg, Geoffrey S; Orlando, Lori A; Ngeow, Joanne; Wu, Rebekah RyanneA family health history-based risk assessment is particularly valuable for guiding cancer screening and treatment strategies, yet an optimal implementation depends upon end-users' values and needs. This is not only true prior to disease development, but also for those already affected. The aim of this study is to explore perceptions of the value of knowing one's family health history (FHH)-based risk, experience using a patient-facing FHH tool and the potential of the tool for wider implementation. Twenty multi-ethnic Asian patients undergoing breast cancer treatment in Singapore completed an FHH-based risk assessment. Semi-structured one-on-one interviews were conducted and data were thematically analyzed. All participants were female and slightly more than half were Chinese. The acceptance and usage of an FHH risk assessment tool for cancers and its broader implementation was affected by a perceived importance of personal control over early detection, patient concerns of anxiety for themselves and their families due to risk results, concerns for genetic discrimination, adequacy of follow-up care plans and Asian cultural beliefs toward disease and dying. This study uniquely sheds light on the factors affecting Asian breast cancer patients' perceptions about undergoing an FHH-based risk assessment, which should inform steps for a broader implementation in Asian healthcare systems.Item Open Access Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes.(J Genet Couns, 2017-02) Wu, R Ryanne; Myers, Rachel A; Hauser, Elizabeth R; Vorderstrasse, Allison; Cho, Alex; Ginsburg, Geoffrey S; Orlando, Lori AFamily health history (FHH) in the context of risk assessment has been shown to positively impact risk perception and behavior change. The added value of genetic risk testing is less certain. The aim of this study was to determine the impact of Type 2 Diabetes (T2D) FHH and genetic risk counseling on behavior and its cognitive precursors. Subjects were non-diabetic patients randomized to counseling that included FHH +/- T2D genetic testing. Measurements included weight, BMI, fasting glucose at baseline and 12 months and behavioral and cognitive precursor (T2D risk perception and control over disease development) surveys at baseline, 3, and 12 months. 391 subjects enrolled of which 312 completed the study. Behavioral and clinical outcomes did not differ across FHH or genetic risk but cognitive precursors did. Higher FHH risk was associated with a stronger perceived T2D risk (pKendall < 0.001) and with a perception of "serious" risk (pKendall < 0.001). Genetic risk did not influence risk perception, but was correlated with an increase in perception of "serious" risk for moderate (pKendall = 0.04) and average FHH risk subjects (pKendall = 0.01), though not for the high FHH risk group. Perceived control over T2D risk was high and not affected by FHH or genetic risk. FHH appears to have a strong impact on cognitive precursors of behavior change, suggesting it could be leveraged to enhance risk counseling, particularly when lifestyle change is desirable. Genetic risk was able to alter perceptions about the seriousness of T2D risk in those with moderate and average FHH risk, suggesting that FHH could be used to selectively identify individuals who may benefit from genetic risk testing.Item Open Access Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.(Genet Med, 2017-04-13) Phillips, Kathryn A; Deverka, Patricia A; Sox, Harold C; Khoury, Muin J; Sandy, Lewis G; Ginsburg, Geoffrey S; Tunis, Sean R; Orlando, Lori A; Douglas, Michael PComparative effectiveness research (CER) in genomic medicine (GM) measures the clinical utility of using genomic information to guide clinical care in comparison to appropriate alternatives. We summarized findings of high-quality systematic reviews that compared the analytic and clinical validity and clinical utility of GM tests. We focused on clinical utility findings to summarize CER-derived evidence about GM and identify evidence gaps and future research needs. We abstracted key elements of study design, GM interventions, results, and study quality ratings from 21 systematic reviews published in 2010 through 2015. More than half (N = 13) of the reviews were of cancer-related tests. All reviews identified potentially important clinical applications of the GM interventions, but most had significant methodological weaknesses that largely precluded any conclusions about clinical utility. Twelve reviews discussed the importance of patient-centered outcomes, although few described evidence about the impact of genomic medicine on these outcomes. In summary, we found a very limited body of evidence about the effect of using genomic tests on health outcomes and many evidence gaps for CER to address.Genet Med advance online publication 13 April 2017Genetics in Medicine (2017); doi:10.1038/gim.2017.21.Item Open Access Patient beliefs and behaviors about genomic risk for type 2 diabetes: Implications for prevention(Journal of Health Communication, 2015-01-01) Gallagher, Patrick; King, Heather A; Haga, Susanne B; Orlando, Lori A; Joy, Scott V; Trujillo, Gloria M; Scott, William Michael; Bembe, Marylou; Creighton, Dana L; Cho, Alex H; Ginsburg, Geoffrey S; Vorderstrasse, AllisonCopyright © Taylor & Francis Group, LLC 2015.Type 2 diabetes is a major health burden in the United States, and population trends suggest this burden will increase. High interest in, and increased availability of, testing for genetic risk of type 2 diabetes presents a new opportunity for reducing type 2 diabetes risk for many patients; however, to date, there is little evidence that genetic testing positively affects type 2 diabetes prevention. Genetic information may not fit patients illness representations, which may reduce the chances of risk-reducing behavior changes. The present study aimed to examine illness representations in a clinical sample who are at risk for type 2 diabetes and interested in genetic testing. The authors used the Common Sense Model to analyze survey responses of 409 patients with type 2 diabetes risk factors. Patients were interested in genetic testing for type 2 diabetes risk and believed in its importance. Most patients believed that genetic factors are important to developing type 2 diabetes (67%), that diet and exercise are effective in preventing type 2 diabetes (95%), and that lifestyle changes are more effective than drugs (86%). Belief in genetic causality was not related to poorer self-reported health behaviors. These results suggest that patients interest in genetic testing for type 2 diabetes might produce a teachable moment that clinicians can use to counsel behavior change.Item Open Access Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system.(BMC Health Serv Res, 2011-10-11) Orlando, Lori A; Hauser, Elizabeth R; Christianson, Carol; Powell, Karen P; Buchanan, Adam H; Chesnut, Blair; Agbaje, Astrid B; Henrich, Vincent C; Ginsburg, GeoffreyBACKGROUND: The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research) framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina. METHODS/DESIGN: The family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome). DISCUSSION: This study integrates a computerized family health history system within the context of a routine well-visit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers. Results of the implementation process, its acceptability to patients and providers, modifications necessary to optimize the system, and impact on clinical care can serve to guide future implementation projects for both family history and other tools of personalized medicine, such as health risk assessments.Item Open Access Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.(Implement Sci, 2015-11-24) Wu, R Ryanne; Myers, Rachel A; McCarty, Catherine A; Dimmock, David; Farrell, Michael; Cross, Deanna; Chinevere, Troy D; Ginsburg, Geoffrey S; Orlando, Lori A; Family Health History NetworkBACKGROUND: Risk assessment with a thorough family health history is recommended by numerous organizations and is now a required component of the annual physical for Medicare beneficiaries under the Affordable Care Act. However, there are several barriers to incorporating robust risk assessments into routine care. MeTree, a web-based patient-facing health risk assessment tool, was developed with the aim of overcoming these barriers. In order to better understand what factors will be instrumental for broader adoption of risk assessment programs like MeTree in clinical settings, we obtained funding to perform a type III hybrid implementation-effectiveness study in primary care clinics at five diverse healthcare systems. Here, we describe the study's protocol. METHODS/DESIGN: MeTree collects personal medical information and a three-generation family health history from patients on 98 conditions. Using algorithms built entirely from current clinical guidelines, it provides clinical decision support to providers and patients on 30 conditions. All adult patients with an upcoming well-visit appointment at one of the 20 intervention clinics are eligible to participate. Patient-oriented risk reports are provided in real time. Provider-oriented risk reports are uploaded to the electronic medical record for review at the time of the appointment. Implementation outcomes are enrollment rate of clinics, providers, and patients (enrolled vs approached) and their representativeness compared to the underlying population. Primary effectiveness outcomes are the percent of participants newly identified as being at increased risk for one of the clinical decision support conditions and the percent with appropriate risk-based screening. Secondary outcomes include percent change in those meeting goals for a healthy lifestyle (diet, exercise, and smoking). Outcomes are measured through electronic medical record data abstraction, patient surveys, and surveys/qualitative interviews of clinical staff. DISCUSSION: This study evaluates factors that are critical to successful implementation of a web-based risk assessment tool into routine clinical care in a variety of healthcare settings. The result will identify resource needs and potential barriers and solutions to implementation in each setting as well as an understanding potential effectiveness. TRIAL REGISTRATION: NCT01956773.Item Open Access Surgeon Applications of Patient Preferences in Treatment Decision Making for First-Time Anterior Shoulder Dislocation.(Orthopaedic journal of sports medicine, 2020-12-04) Lau, Brian C; Hutyra, Carolyn A; Streufert, Benjamin; Reed, Shelby D; Orlando, Lori A; Huber, Joel C; Taylor, Dean C; Mather, Richard CBackground
Treatment of a first-time anterior shoulder dislocation (FTASD) is sensitive to patient preferences. The operative or nonoperative management debate provides an excellent opportunity to learn how surgeons apply patient preferences in treatment decisions.Purpose
To determine how patient preferences (repeat dislocation risk, recovery difficulties, fear of surgery, treatment costs) and surgeon factors influence a surgeon's treatment plan for FTASD.Study design
Cross-sectional study.Methods
Eight clinical vignettes of hypothetical patients with FTASD (including age, sex, and activity level) were presented to members of the Magellan Society. A second set of matched vignettes with patient preferences and clinical variables were also presented. The vignettes represented scenarios in which evidence does not favor one treatment over another. Respondents were asked how they would manage each hypothetical case. Respondents also estimated the risk of redislocation for the nonoperative cases for comparison with the published rates. Finally, respondents completed a Likert-scale questionnaire to determine their perceptions on factors influencing their decisions.Results
A total of 103 orthopaedic surgeons completed the survey; 48% practiced in an academic hospital; 79% were in practice for 10 years or longer; and 75% had completed a sports medicine fellowship. Patient preferences were the single most important factor influencing treatment recommendation, with activity type and age also important. Just 62% of the surgeon estimates of the risk of redislocation were consistent with the published rates. The inclusion of patient preferences to clinical variables changed treatment recommendations in 62.5% of our hypothetical cases. Respondents rated patient treatment preference as the leading factor in their treatment decision making.Conclusion
Patient preferences were important when deciding the appropriate treatment for FTASD. Respondents were inconsistent when applying evidence in their decision making and estimates of recurrent instability. Decision support tools that deliver patient preferences and personalized evidence-based outcome estimates improve the quality of decision making at the point of care.Item Open Access The chronic kidney disease model: a general purpose model of disease progression and treatment.(BMC medical informatics and decision making, 2011-06-16) Orlando, Lori A; Belasco, Eric J; Patel, Uptal D; Matchar, David BBackground
Chronic kidney disease (CKD) is the focus of recent national policy efforts; however, decision makers must account for multiple therapeutic options, comorbidities and complications. The objective of the Chronic Kidney Disease model is to provide guidance to decision makers. We describe this model and give an example of how it can inform clinical and policy decisions.Methods
Monte Carlo simulation of CKD natural history and treatment. Health states include myocardial infarction, stroke with and without disability, congestive heart failure, CKD stages 1-5, bone disease, dialysis, transplant and death. Each cycle is 1 month. Projections account for race, age, gender, diabetes, proteinuria, hypertension, cardiac disease, and CKD stage. Treatment strategies include hypertension control, diabetes control, use of HMG-CoA reductase inhibitors, use of angiotensin converting enzyme inhibitors, nephrology specialty care, CKD screening, and a combination of these. The model architecture is flexible permitting updates as new data become available. The primary outcome is quality adjusted life years (QALYs). Secondary outcomes include health state events and CKD progression rate.Results
The model was validated for GFR change/year -3.0 ± 1.9 vs. -1.7 ± 3.4 (in the AASK trial), and annual myocardial infarction and mortality rates 3.6 ± 0.9% and 1.6 ± 0.5% vs. 4.4% and 1.6% in the Go study. To illustrate the model's utility we estimated lifetime impact of a hypothetical treatment for primary prevention of vascular disease. As vascular risk declined, QALY improved but risk of dialysis increased. At baseline, 20% and 60% reduction: QALYs = 17.6, 18.2, and 19.0 and dialysis = 7.7%, 8.1%, and 10.4%, respectively.Conclusions
The CKD Model is a valid, general purpose model intended as a resource to inform clinical and policy decisions improving CKD care. Its value as a tool is illustrated in our example which projects a relationship between decreasing cardiac disease and increasing ESRD.Item Open Access The enduring importance of family health history in the era of genomic medicine and risk assessment.(Per Med, 2020-04-22) Haga, Susanne B; Orlando, Lori AImproving disease risk prediction and tailoring preventive interventions to patient risk factors is one of the primary goals of precision medicine. Family health history is the traditional approach to quickly gather genetic and environmental data relevant to the patient. While the utility of family health history is well-documented, its utilization is variable, in part due to lack of patient and provider knowledge and incomplete or inaccurate data. With the advances and reduced costs of sequencing technologies, comprehensive sequencing tests can be performed as a risk assessment tool. We provide an overview of each of these risk assessment approaches, the benefits and limitations and implementation challenges.Item Open Access The IGNITE network: a model for genomic medicine implementation and research.(BMC Med Genomics, 2016-01-05) Weitzel, Kristin Wiisanen; Alexander, Madeline; Bernhardt, Barbara A; Calman, Neil; Carey, David J; Cavallari, Larisa H; Field, Julie R; Hauser, Diane; Junkins, Heather A; Levin, Phillip A; Levy, Kenneth; Madden, Ebony B; Manolio, Teri A; Odgis, Jacqueline; Orlando, Lori A; Pyeritz, Reed; Wu, R Ryanne; Shuldiner, Alan R; Bottinger, Erwin P; Denny, Joshua C; Dexter, Paul R; Flockhart, David A; Horowitz, Carol R; Johnson, Julie A; Kimmel, Stephen E; Levy, Mia A; Pollin, Toni I; Ginsburg, Geoffrey S; IGNITE NetworkBACKGROUND: Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility. METHODS: To address these challenges, the National Institutes of Health-funded IGNITE (Implementing GeNomics In pracTicE; www.ignite-genomics.org ) Network, comprised of six projects and a coordinating center, was established in 2013 to support the development, investigation and dissemination of genomic medicine practice models that seamlessly integrate genomic data into the electronic health record and that deploy tools for point of care decision making. IGNITE site projects are aligned in their purpose of testing these models, but individual projects vary in scope and design, including exploring genetic markers for disease risk prediction and prevention, developing tools for using family history data, incorporating pharmacogenomic data into clinical care, refining disease diagnosis using sequence-based mutation discovery, and creating novel educational approaches. RESULTS: This paper describes the IGNITE Network and member projects, including network structure, collaborative initiatives, clinical decision support strategies, methods for return of genomic test results, and educational initiatives for patients and providers. Clinical and outcomes data from individual sites and network-wide projects are anticipated to begin being published over the next few years. CONCLUSIONS: The IGNITE Network is an innovative series of projects and pilot demonstrations aiming to enhance translation of validated actionable genomic information into clinical settings and develop and use measures of outcome in response to genome-based clinical interventions using a pragmatic framework to provide early data and proofs of concept on the utility of these interventions. Through these efforts and collaboration with other stakeholders, IGNITE is poised to have a significant impact on the acceleration of genomic information into medical practice.Item Open Access Understanding Preferences for Treatment After Hypothetical First-Time Anterior Shoulder Dislocation: Surveying an Online Panel Utilizing a Novel Shared Decision-Making Tool.(Orthop J Sports Med, 2017-03) Streufert, Ben; Reed, Shelby D; Orlando, Lori A; Taylor, Dean C; Huber, Joel C; Mather, Richard CBACKGROUND: Although surgical management of a first-time anterior shoulder dislocation (FTASD) can reduce the risk of recurrent dislocation, other treatment characteristics, costs, and outcomes are important to patients considering treatment options. While patient preferences, such as those elicited by conjoint analysis, have been shown to be important in medical decision-making, the magnitudes or effects of patient preferences in treating an FTASD are unknown. PURPOSE: To test a novel shared decision-making tool after sustained FTASD. Specifically measured were the following: (1) importance of aspects of operative versus nonoperative treatment, (2) respondents' agreement with results generated by the tool, (3) willingness to share these results with physicians, and (4) association of results with choice of treatment after FTASD. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: A tool was designed and tested using members of Amazon Mechanical Turk, an online panel. The tool included an adaptive conjoint analysis exercise, a method to understand individuals' perceived importance of the following attributes of treatment: (1) chance of recurrent dislocation, (2) cost, (3) short-term limits on shoulder motion, (4) limits on participation in high-risk activities, and (5) duration of physical therapy. Respondents then chose between operative and nonoperative treatment for hypothetical shoulder dislocation. RESULTS: Overall, 374 of 501 (75%) respondents met the inclusion criteria, of which most were young, active males; one-third reported prior dislocation. From the conjoint analysis, the importance of recurrent dislocation and cost of treatment were the most important attributes. A substantial majority agreed with the tool's ability to generate representative preferences and indicated that they would share these preferences with their physician. Importance of recurrence proved significantly predictive of respondents' treatment choices, independent of sex or age; however, activity level was important to previous dislocators. A total of 125 (55%) males and 33 (23%) females chose surgery after FTASD, as did 37% of previous dislocators compared with 45% of nondislocators. CONCLUSION: When given thorough information about the risks and benefits, respondents had strong preferences for operative treatment after an FTASD. Respondents agreed with the survey results and wanted to share the information with providers. Recurrence was the most important attribute and played a role in decisions about treatment.