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As the diagnostic process proceeds, a fairly broad list of potential diagnoses may be narrowed into fewer potential options, a process referred to as diagnostic modification and refinement ( Kassirer et al., 2010). Each time there is a revision to the working diagnosis, this information should be communicated to the patient. The working diagnosis should be shared with the patient, including an explanation of the degree of uncertainty associated with a working diagnosis. Typically, clinicians will consider more than one diagnostic hypothesis or possibility as an explanation of the patient's symptoms and will refine this list as further information is obtained in the diagnostic process. The working diagnosis may be either a list of potential diagnoses (a differential diagnosis) or a single potential diagnosis. Communication among health care professionals, the patient, and the patient's family members is critical in this cycle of information gathering, integration, and interpretation. The continuous process of information gathering, integration, and interpretation involves hypothesis generation and updating prior probabilities as more information is learned.
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The information-gathering approaches can be employed at different times, and diagnostic information can be obtained in different orders. Performing a clinical history and interview, conducting a physical exam, performing diagnostic testing, and referring or consulting with other clinicians are all ways of accumulating information that may be relevant to understanding a patient's health problem. Once a patient seeks health care, there is an iterative process of information gathering, information integration and interpretation, and determining a working diagnosis. The patient is likely the first person to consider his or her symptoms and may choose at this point to engage with the health care system. The diagnostic process proceeds as follows: First, a patient experiences a health problem.
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To help manage this complexity, the chapter concludes with a discussion of the role of clinical practice guidelines in informing decision making in the diagnostic process. The rising complexity of health care and the sheer volume of advances, coupled with clinician time constraints and cognitive limitations, have outstripped human capacity to apply this new knowledge. It also highlights the mounting complexity of health care, due to the ever-increasing options for diagnostic testing 2 and treatment, the rapidly rising levels of biomedical and clinical evidence to inform clinical practice, and the frequent comorbidities among patients due to the aging of the population ( IOM, 2008, 2013b).
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The chapter describes important considerations in the diagnostic process, such as the roles of diagnostic uncertainty and time. In addition, public policy decisions are often influenced by diagnostic information, such as setting payment policies, resource allocation decisions, and research priorities ( Jutel, 2009 Rosenberg, 2002 WHO, 2012). 1 When a diagnosis is accurate and made in a timely manner, a patient has the best opportunity for a positive health outcome because clinical decision making will be tailored to a correct understanding of the patient's health problem ( Holmboe and Durning, 2014). Diagnosis has been described as both a process and a classification scheme, or a “pre-existing set of categories agreed upon by the medical profession to designate a specific condition” ( Jutel, 2009). Diagnosis has important implications for patient care, research, and policy. This chapter provides an overview of diagnosis in health care, including the committee's conceptual model of the diagnostic process and a review of clinical reasoning.