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

Area of Science:

• Genomics and Genetic Testing
• Patient Communication
• Health Literacy

Background:

• Communicating complex genomic results is a significant challenge for families and non-specialist health professionals.
• Existing laboratory reports are often not patient-centered, hindering understanding.
• There is a need for co-designed, evaluated plain language genomic reports in real-world settings.

Purpose of the Study:

• To co-design and evaluate plain language genomic test report templates for rare disease genetic testing.
• To assess the utility and impact of these reports on patient and clinician understanding and communication.

Main Methods:

• Development of eight plain language genomic test report templates through co-design with patient groups, plain language experts, educators, and genetic health professionals.
• Pilot testing and evaluation within a national pediatric ultra-rapid genomic testing program.
• Surveys administered to families and genetic health professionals to explore experiences with report layout, content, and use.

Main Results:

• 82% of families found the plain language reports helpful in understanding their genomic test results.
• 63% of families shared the reports, primarily with family members (72%) and other health professionals (68%).
• 15% of clinicians adapted the reports for use in different settings, indicating broader utility.

Conclusions:

• Co-designed plain language genomic test reports, when implemented in real-world clinical settings, effectively enhance patient and family comprehension of genomic test purpose and outcomes.
• These reports facilitate improved communication regarding potential clinical implications of genomic findings.
• The study highlights the value of patient-centered communication tools in genomics.