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

SUBMITTER: Davis KW 

PROVIDER: S-EPMC6625363 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature