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

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.

Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations.

An informed choice about health-related direct-to-consumer genetic testing (DTCGT) requires knowledge of potential benefits, risks, and limitations. To understand the information that potential consumers of DTCGT services are exposed to on company websites, we conducted a content analysis of 23 health-related DTCGT websites. Results revealed that benefit statements outweighed risk and limitation statements 6 to 1.

"My son is still walking": stages of receptivity to discussions of advance care planning among parents of sons with Duchenne muscular dystrophy.

Duchenne muscular dystrophy is an inherited progressive neuromuscular disease that generally results in death by early adulthood. Because of its life-threatening nature, discussions of advance care planning are extremely relevant to families with affected children and adolescents. Seventeen parents of sons with Duchenne muscular dystrophy were interviewed about their attitudes, experiences, and the nature of their discussions about these topics.