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Proposal for a Scientifically Correct and Medically Actionable Disease Classification System (ICD) for Obesity.

ABSTRACT: OBJECTIVE:Obesity is responsible for a huge burden of suffering and social costs, and yet many patients lack access to evidence-based therapies. The diagnostic term "obesity" and inadequate International Classification of Diseases(ICD) codes contribute to suboptimal efforts to prevent and treat obesity as a chronic disease. The goal of this review is to develop a medically actionable classification system based on the diagnostic term "adiposity-based chronic disease" (ABCD) that reflects disease pathophysiology and specific complications causing morbidity and mortality. METHODS:A coding system based on the diagnosis of ABCD with four domains is proposed: A codes reflect pathophysiology, B codes indicate BMI classification, C codes specify specific biomechanical and cardiovascular complications remediable by weight loss, and D codes indicate the degree of the severity of complications. Supplemental codes identify aggravating factors that complicate care and that are relevant to a personalized therapeutic plan. RESULTS:The coding system addresses pathophysiology and therapeutic goals and differential risk, presence, and severity of specific complications that are integral to ABCD as a chronic disease. CONCLUSIONS:The scientifically correct and medically actionable approach to diagnosis and disease coding will lead to greater acknowledgement of ABCD as a disease and accessibility to evidence-based therapies on behalf of patients across the life cycle.

SUBMITTER: Garvey WT

PROVIDER: S-EPMC7045990 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Proposal for a Scientifically Correct and Medically Actionable Disease Classification System (ICD) for Obesity.

Garvey W Timothy WT Mechanick Jeffrey I JI

Obesity (Silver Spring, Md.) 20200301 3

<h4>Objective</h4>Obesity is responsible for a huge burden of suffering and social costs, and yet many patients lack access to evidence-based therapies. The diagnostic term "obesity" and inadequate International Classification of Diseases(ICD) codes contribute to suboptimal efforts to prevent and treat obesity as a chronic disease. The goal of this review is to develop a medically actionable classification system based on the diagnostic term "adiposity-based chronic disease" (ABCD) that reflects ...[more]

PMID: 32090513

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Project description:The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations.

Dataset Information

Proposal for a Scientifically Correct and Medically Actionable Disease Classification System (ICD) for Obesity.

Publications

Proposal for a Scientifically Correct and Medically Actionable Disease Classification System (ICD) for Obesity.

Similar Datasets

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