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A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients.

Abstract：

PURPOSE:To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. METHODS:We retrospectively analyzed genomic testing reports from 2011 to 2016 provided to, or by our laboratory to aid in clinical detection and interpretation of copy number variants. Analysis was restricted to the following sections: interpretation, recommendations, limitations, and citations. Analysis included descriptive characteristics, reporting elements, reading difficulty using the Simple Measure of Gobbledygook (SMOG), and quality ratings using a subset of questions adapted from the DISCERN-Genetics questionnaire. RESULTS:The analysis included 44 unique reports from 26 laboratories comprising four groups: specialty laboratories (SL; N = 9), reference laboratories (RL; N = 12), hospital laboratories (HL; N = 10), and university-based laboratories (UL; N = 13). There were 23 abnormal/pathogenic reports and 21 of uncertain/unknown significance. Nine laboratories did not include one or more pieces of information based on ACMG guidelines; only one of ten laboratories reported condition-specific management/treatment information when available and relevant. Average quality ratings and readability scores were not significantly different between laboratory types or result classification. CONCLUSIONS:Reporting practices for most report elements varied widely; however, readability and quality did not differ significantly between laboratory types. Management and treatment information, even for well-known conditions, are rarely included. Effectively communicating test results may be improved if certain reporting elements are incorporated. Recommendations to improve laboratory reports are provided.

journal_name

Mol Genet Genomic Med

journal_title

Molecular genetics & genomic medicine

authors

Davis KW,Hamby Erby L,Fiallos K,Martin M,Wassman ER

doi

10.1002/mgg3.551

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

e00551

issue

issn

2324-9269

journal_volume

pub_type

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A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients.