Development and Validation of a Primary Care-Based Family Health History and Decision Support Program (MeTree)

Introduction: Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to guide selection of primary prevention strategies. However, the collection and synthesis of such information is not well integrated into clinical practice. To address barriers to collection and use of family health histories, the Genomedical Connection developed and validated MeTree, a Web-based, patient-facing family health history collection and clinical decision support tool. MeTree is designed for integration into primary care practices as part of the genomic medicine model for primary care.Methods: We describe the guiding principles, operational characteristics, algorithm development, and coding used to develop MeTree. Validation was performed through stakeholder cognitive interviewing, a genetic counseling pilot program, and clinical practice pilot programs in 2 community-based primary care clinics.Results: Stakeholder feedback resulted in changes to MeTree’s interface and changes to the phrasing of clinical decision support documents. The pilot studies resulted in the identification and correction of coding errors and the reformatting of clinical decision support documents. MeTree’s strengths in comparison with other tools are its seamless integration into clinical practice and its provision of action-oriented recommendations guided by providers’ needs.Limitations: The tool was validated in a small cohort.Conclusion: MeTree can be integrated into primary care practices to help providers collect and synthesize family health history information from patients with the goal of improving adherence to risk-stratified evidence-based guidelines

An electronic family health history tool to identify and manage patients at increased risk for colorectal cancer: protocol for a randomized controlled trial.

BackgroundColorectal cancer is the fourth most commonly diagnosed cancer in the United States. Approximately 3-10% of the population has an increased risk for colorectal cancer due to family history and warrants more frequent or intensive screening. Yet, < 50% of that high-risk population receives guideline-concordant care. Systematic collection of family health history and decision support may improve guideline-concordant screening for patients at increased risk of colorectal cancer. We seek to test the effectiveness of a web-based, systematic family health history collection tool and decision support platform (MeTree) to improve risk assessment and appropriate management of colorectal cancer risk among patients in the Department of Veterans Affairs primary care practices.MethodsIn this ongoing randomized controlled trial, primary care providers at the Durham Veterans Affairs Health Care System and the Madison VA Medical Center are randomized to immediate intervention or wait-list control. Veterans are eligible if assigned to enrolled providers, have an upcoming primary care appointment, and have no conditions that would place them at increased risk for colorectal cancer (such as personal history, adenomatous polyps, or inflammatory bowel disease). Those with a recent lower endoscopy (e.g. colonoscopy, sigmoidoscopy) are excluded. Immediate intervention patients put their family health history information into a web-based platform, MeTree, which provides both patient- and provider-facing decision support reports. Wait-list control patients access MeTree 12 months post-consent. The primary outcome is the risk-concordant colorectal cancer screening referral rate obtained via chart review. Secondary outcomes include patient completion of risk management recommendations (e.g. colonoscopy) and referral for genetic consultation. We will also conduct an economic analysis and an assessment of providers' experience with MeTree clinical decision support recommendations to inform future implementation efforts if the intervention is found to be effective.DiscussionThis trial will assess the feasibility and effectiveness of patient-collected family health history linked to decision support to promote risk-appropriate screening in a large healthcare system such as the Department of Veterans Affairs.Trial registrationClinicalTrials.gov, NCT02247336 . Registered on 25 September 2014

Providing Patient Education: Impact on Quantity and Quality of Family Health History Collection

Background: Family health history (FHH) is an underutilized tool in primary care to identify and risk-stratify individuals with increased cancer risk. Objective: Evaluate the influence of patient education on quantity and quality of FHH entered into a primary care-based software program, and impact on the program’s cancer risk management recommendations. Design: Two primary care practices within a larger type II hybrid implementation-effectiveness controlled clinical trial. Participants: English speaking non-adopted patients with a well visit appointment December 2012–March 2013. Interventions: One to two weeks prior to their well visit appointment, participants entered their FHH into the program. Participants were then provided educational materials describing key FHH components. They were instructed to use the interval to collect additional FHH information. Patients then returned for their scheduled appointment, and updated their FHH with any new information. Main Measures: Percentage per pedigree of relatives meeting individual quality criteria. Changes made after patient education and changes to recommendations for surveillance, chemoprevention or genetic counseling referral. Key Results: Post patient education, pedigrees exhibited a greater percentage (per pedigree) of: deceased relatives with age at death (84 vs. 81 % p = 0.02), deceased relatives with cause of death (91 vs. 87 % p = 0.02), relatives with a named health condition (45 vs. 42 %p = 0.002), and a greater percentage of relatives with high quality records (91 vs. 89 % p = 0.02). Of 43 participants with pedigree changes that could trigger changes in risk stratified prevention recommendations, 12 participants (28 %) received such changes. Conclusions: Patient education improves FHH collection and subsequent risk stratification utilized in providing actionable evidence-based care recommendations for cancer risk management

Precision Medicine: From Science To Value.

Precision medicine is making an impact on patients, health care delivery systems, and research participants in ways that were only imagined fifteen years ago when the human genome was first sequenced. Discovery of disease-causing and drug-response genetic variants has accelerated, while adoption into clinical medicine has lagged. We define precision medicine and the stakeholder community required to enable its integration into research and health care. We explore the intersection of data science, analytics, and precision medicine in the formation of health systems that carry out research in the context of clinical care and that optimize the tools and information used to deliver improved patient outcomes. We provide examples of real-world impact and conclude with a policy and economic agenda necessary for the adoption of this new paradigm of health care both in the United States and globally

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.

Background and objectivesGenomic sequencing (GS) is increasingly used for diagnostic evaluation, yet follow-up care is not well understood. We assessed clinicians' recommendations after GS, parent-reported follow-up, and actions parents initiated in response to learning their child's GS results.MethodsWe surveyed parents of children who received GS through the Clinical Sequencing Evidence Generating Research consortium ∼5 to 7 months after return of results. We compared the proportion of parents who reported discussing their child's result with a clinician, clinicians' recommendations, and parents' follow-up actions by GS result type using χ2 tests.ResultsA total of 1188 respondents completed survey measures on recommended medical actions (n = 1187) and/or parent-initiated actions (n = 913). Most parents who completed recommended medical actions questions (n = 833, 70.3%) reported having discussed their child's GS results with clinicians. Clinicians made recommendations to change current care for patients with positive GS results (n = 79, 39.1%) more frequently than for those with inconclusive (n = 31, 12.4%) or negative results (n = 44, 11.9%; P < .001). Many parents discussed (n = 152 completed, n = 135 planned) implications of GS results for future pregnancies with a clinician. Aside from clinical recommendations, 13.0% (n = 119) of parents initiated changes to their child's health or lifestyle.ConclusionsIn diverse pediatric clinical contexts, GS results can lead to recommendations for follow-up care, but they likely do not prompt large increases in the quantity of care received

Artificial Intelligence in Oncology Drug Discovery and Development

There exists a profound conflict at the heart of oncology drug development. The efficiency of the drug development process is falling, leading to higher costs per approved drug, at the same time personalised medicine is limiting the target market of each new medicine. Even as the global economic burden of cancer increases, the current paradigm in drug development is unsustainable. In this book, we discuss the development of techniques in machine learning for improving the efficiency of oncology drug development and delivering cost-effective precision treatment. We consider how to structure data for drug repurposing and target identification, how to improve clinical trials and how patients may view artificial intelligence

Lifelong personal health data and application software via virtual machines in the cloud

Personal Health Records (PHRs) should remain the lifelong property of patients, who should be able to show them conveniently and securely to selected caregivers and institutions. In this paper, we present MyPHRMachines, a cloud-based PHR system taking a radically new architectural solution to health record portability. In MyPHRMachines, health-related data and the application software to view and/or analyze it are separately deployed in the PHR system. After uploading their medical data to MyPHRMachines, patients can access them again from remote virtual machines that contain the right software to visualize and analyze them without any need for conversion. Patients can share their remote virtual machine session with selected caregivers, who will need only a Web browser to access the pre-loaded fragments of their lifelong PHR. We discuss a prototype of MyPHRMachines applied to two use cases, i.e., radiology image sharing and personalized medicine

Individualizing Care for Pediatric Patients with Autism Spectrum Disorder in Perioperative Services

This research explores solutions for individualizing and improving care for pediatric patients with Autism Spectrum Disorder in the Perioperative Setting of an Outpatient Surgery Center. Specifically, it seeks to determine if providing parent and staff resources on Autism Spectrum Disorder is significantly helpful in increasing confidence in the staff by the parents and the staff themselves. Participants included thirty-five surveyed families who had pediatric patients visiting perioperative services and staff who work on the unit. Methods used include information dissemination with the use of printable and online evidence-based resources, an in-person education event for staff, and a pilot study of a parent questionnaire. Data collection showed that 72.7% of families thought that staff was better prepared to care for their child due to the piloted parent questionnaire. Additionally, of the staff that provided feedback after the in-service ASD education event, the majority indicated that their confidence in preparedness in caring for children with behavioral diagnoses was improved. Overall, this paper shows that an increase in staff and family confidence in staff’s ability to care for patients with Autism Spectrum Disorder did improve after project implementation