Co-design, implementation, and evaluation of plain language genomic test reports

Understanding genomic test results is challenging for families and non-genetic specialists. Rather than modifying laboratory reports, plain language genomic test reports offer a patient- and family-centered approach, but most existing examples lack co-design and real-world evaluation. Through co-design with patient groups, plain language experts, educators, and genetic health professionals, eight plain language report templates were developed for common rare disease test outcomes. These were piloted and evaluated within a national pediatric ultra-rapid genomic testing program using surveys of families and genetic health professionals. Of 154 families and 107 clinicians issued reports, 51 families and 57 clinicians responded (response rates 33% and 53%). Most families (82%) found the report helpful for understanding results. Reports were shared by 63% of families, predominantly with family members (72%) and health professionals (68%). Clinicians (15%) adapted the templates for other settings. Co-designed plain language genomic test reports implemented in real-world settings can facilitate understanding and communication of test purpose, outcome, and clinical implications.

Gemma R. Brett, Aisha Ward, Sophie E. Bouffler, Elizabeth E. Palmer, Kirsten Boggs, Fiona Lynch, Amanda Springer, Amy Nisselle, Zornitsa Stark