Journal of general internal medicine
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Hemophilia A is a rare, sex-linked genetic disorder treated with intravenous administration of factor VIII (FVIII) to prevent bleeding; however, approaches vary across and within countries. Value-of-information (VOI) methods identify situations in which the cost-benefit evidence is sufficient to adopt one treatment strategy over another; when the evidence is insufficient, VOI methods provide the optimal sample size for additional research. ⋯ In rare diseases, evidence is often scarce and insufficient for decision making. In considering the funding of new research and patient reimbursement in rare diseases, VOI methodology may provide more relevant determinations of the value and costs of additional research, compared to standard frequentist methods.
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Leaders in medical education have called for redesign of internal medicine training to improve ambulatory care training. 4 + 1 block scheduling is one innovative approach to enhance ambulatory education. ⋯ 4 + 1 schedule improves visit continuity from a resident perspective, and may compromise visit continuity from the patient perspective, but allows for improved laboratory follow-up, which we pose should be part of an emerging modern definition of continuity.
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The science of measuring patient-reported outcomes (PROs) has advanced substantially in recent decades, allowing evaluation of how patients feel and function in clinical research. Assessment of the patient experience in populations with rare diseases can be successfully achieved using PRO measures when careful planning and rigorous methods are employed. ⋯ PRO assessments in rare disease clinical trials have been particularly successful through partnerships between investigators, PRO methodologists, and patient organizations. The overall goal of PRO measurement is to understand the patient experience and it provides an essential part of evaluating the impact of disease and treatment.
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Entrustable Professional Activities (EPAs) and the Next Accreditation System reporting milestones reduce general competencies into smaller evaluable parts. However, some EPAs and reporting milestones may be too broad to use as direct assessment tools. We describe our internal medicine residency curriculum and assessment system, which uses entrustment and mapping of observable practice activities (OPAs) for resident assessment. ⋯ Entrustment ratings of OPAs provide an opportunity for immediate structured feedback of specific clinical skills, and mapping OPAs to milestones and EPAs can be used for longitudinal assessment, promotion decisions, and reporting. Direct assessment and demonstration of progressive entrustment of trainee skill over time are important goals for all training programs. Systems that use OPAs mapped to milestones and EPAs provide the opportunity for achieving both, but require validation.
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Important role of translational science in rare disease innovation, discovery, and drug development.
Rare diseases play a leading role in innovation and the advancement of medical and pharmaceutical science. Most rare diseases are genetic disorders or atypical manifestations of infectious, immunologic, or oncologic diseases; they all provide opportunities to study extremes of human pathology and provide insight into both normal and aberrant physiology. Recently, drug development has become increasingly focused on classifying diseases largely on genetic grounds; this has allowed the identification of molecularly defined targets and the development of targeted therapies. ⋯ Drug developers, researchers, and regulatory agencies face a variety of challenges throughout the life cycle of drug research and development for rare diseases. These include the small numbers of patients available for study, lack of knowledge of the disease's natural history, incomplete understanding of the basic mechanisms causing the disorder, and variability in disease severity, expression, and course. Traditional approaches to rare disease clinical research have not kept pace with advances in basic science, and increased attention to translational science is needed to address these challenges, especially diagnostic testing, registries, and novel trial designs.