Advances in genotyping technology have, over the past decade, enabled the focused search for common genetic variation associated with human diseases and traits. With the recently increased availability of detailed phenotypic data from electronic health records and epidemiological studies, the impact of one or more genetic variants on the phenome is starting to be characterized both in clinical and population-based settings using phenome-wide association studies (PheWAS). These studies reveal a number of challenges that will need to be overcome to unlock the full potential of PheWAS for the characterization of the complex human genome-phenome relationship.

Unravelling the human genome-phenome relationship using phenome-wide association studies

COPD Readmissions: Addressing COPD in the Era of Value-based Health Care

Clinical phenotyping in selected national networks

Rationale: The asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) occurs in patients with fixed airway obstruction that defines COPD and with symptoms more typical of asthma. ACOS prevalence and the comorbidities associated with this syndrome have been inadequately characterized.Objectives: Because this population is prone to more frequent exacerbations, we hypothesized that comorbidities associated with ACOS are higher than those with COPD, asthma, and control populations in the United States.Methods: We examined the self-reported demographics, smoking status, comorbidities, and hospitalization or emergency department (ED) visitation experience among study respondents older than 35 years of age (n = 90,851) in the Behavioral Risk Factor Surveillance System survey and compared participants with ACOS to COPD, asthma, and control groups. We used logistic regression to compare ACOS and COPD populations to model the impact of comorbid conditions and hospitalization/ED visits after adj...

https://www.atsjournals.org/doi/pdf/10.1513/AnnalsATS.201508-554OC

Characteristics and Prevalence of Asthma/Chronic Obstructive Pulmonary Disease Overlap in the United States.

Chronic obstructive pulmonary disease (COPD) is the third leading cause of hospital readmissions in the United States. The quality of care delivered to patients with COPD is known to be lacking across the care continuum, and may contribute to high rates of readmission. As part of the response to these issues, the Centers for Medicare and Medicaid instituted a penalty for 30-day readmissions as part of their Hospital Readmission Reduction Program in October 2014. At the time the penalty was instated, there was little published evidence on effective hospital-based programs to reduce readmissions after acute exacerbations of COPD. Even now, several years later, few published programs exist, and we continue to lack consistent approaches that lead to improved readmission rates. In addition, there was concern that the penalty would widen health disparities. Despite the dearth of published evidence to reduce readmissions beyond available COPD guidelines, many hospitals across the United States began to develop and implement programs, based on little evidence, due to the financial penalty. We, therefore, assembled a diverse group of clinicians, researchers, payers, and program leaders from across the country to present and discuss approaches that had the greatest potential for success. We drew on expertise from ongoing readmission reduction programs, implementation methodologies, and stakeholder perspectives to develop this Workshop Report on current best practices and models for addressing COPD hospital readmissions.

https://www.atsjournals.org/doi/pdf/10.1513/AnnalsATS.201811-755WS

Reducing Chronic Obstructive Pulmonary Disease Hospital Readmissions. An Official American Thoracic Society Workshop Report

Rationale: Clinical trials in chronic obstructive pulmonary disease (COPD) usually require evidence of airflow obstruction and clinical risk factors. International Classification of Diseases, Ninth Revision (ICD-9) diagnosis codes or patient-reported physician diagnoses are often used for epidemiologic studies and performance improvement programs.

Objectives: To evaluate agreement between these case definitions for COPD and to assess the comparability of study populations identified as having COPD not using the clinical trial reference standard.

Methods: We recruited patients from the COPD Outcomes-based Network for Clinical Effectiveness and Research Translation multicenter clinical registry in a cross-sectional study. Demographics, clinical, and post-bronchodilator spirometry data were collected at an in-person study visit. The kappa statistic (κ) was used to evaluate agreement. A multivariable logistic regression model was used to identify patient characteristics associated with meeting the trial reference standard.

Measurements and Main Results: A total of 998 (82.8%) of 1,206 study participants met at least one case definition for COPD (of the 998: 91% using ICD-9 codes, 73% using patient-reported physician diagnosis, 56% using trial reference standard); agreement between case definitions was poor (κ = 0.20–0.26). Lack of airflow obstruction was the principal (89%) reason patients identified as having COPD did not meet the trial reference standard. Patients who were black (vs. white), obese (vs. normal weight), or had depression (vs. not) were less likely to meet the trial reference standard (odds ratio [95% CI], 0.37 [0.26–0.53], 0.51 [0.34–0.75], 0.53 [0.40–0.71], respectively).

Conclusions: Findings highlight concerns about the applicability of findings in clinical trials to patients meeting other case definitions for COPD.

/pdf/multicenter-study-comparing-case-definitions-used-to-17d1udnjo0.pdf

Binoy J. Joese

Papers

Multicenter study comparing case definitions used to identify patients with chronic obstructive pulmonary disease.

Metrics and tools for consistent cohort discovery and financial analyses post-transition to ICD-10-CM