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

Families and health professionals without genetics training often struggle to interpret laboratory genomic test reports, which use technical language and may not clearly convey clinical relevance. Patients and families desire accessible, plain language summaries aligned with clinical interpretations to support understanding and communication with caregivers and non-genetic clinicians. Existing professional reporting guidelines focus on laboratory content rather than patient-facing communications, and many available plain language resources lack co-design and real-world evaluation, or are limited to single conditions and hypothetical scenarios. This study addresses these gaps by co-designing plain language genomic test report templates, implementing them nationally in acute pediatrics, and evaluating their real-world use and perceived utility among families and clinicians.

Prior work has highlighted the need for patient-friendly genomic result summaries that complement laboratory reports and support communication across diverse audiences. Studies have recommended co-design with end-users, development of standalone patient/family reports, and use of synoptic structures and patient narratives. However, published examples often lack rigorous co-design, are condition-specific, or rely on hypothetical scenarios rather than real-world evaluations. Guidance focuses mainly on laboratory reporting standards, leaving a gap for evidence-based design and deployment of plain language genomic reports that can be personalized and scaled across varied genomic outcomes.

Context: The Acute Care Genomics study was a national ultra-rapid genomic diagnosis program for critically ill infants and children at 17 Australian hospitals (including 11 children’s hospitals). Ultra-rapid genomic sequencing results were typically returned in under 5 days, with pre- and post-test counseling by genetic health professionals. Ethics approvals were obtained from relevant committees. Co-design: A scoping review identified elements of effective plain language reports and co-design practices. Using synoptic reporting (clear section headings) and patient narrative structures (reflecting patient experience), the team drafted one-page templates. Feedback was obtained from a consultant group of 19 health professionals. Co-design also involved patient groups, plain language experts, educators, and genetic health professionals to refine content, layout, and visual elements (e.g., color, graphics). Templates: Eight templates covered common outcomes: six for diagnostic outcomes (autosomal dominant de novo, inherited autosomal dominant, autosomal recessive, X-linked inherited, X-linked de novo, mitochondrial) and two for non-diagnostic outcomes (variant(s) of uncertain significance considered clinically relevant; uninformative with no variants reported). Test limitations were included for uninformative results. General, pre-filled sections (e.g., next steps, community support) were included where disease-specific resources were lacking. Deployment: Personalized plain language reports (“family reports”) were prepared alongside laboratory reports for Acute Care Genomics participants. Clinicians pre-filled and personalized content (e.g., genetics team contacts, follow-up, community supports), aiming for a single-page format, and provided the family report during result disclosure (printed and/or PDF). Evaluation: Two complementary online surveys (family and clinician versions) assessed report layout, content, and use. Inclusion criteria: families who received a family report (Oct 2020–Nov 2021); clinicians who cared for urGS patients in the program. Surveys included example images, mapped to domains (personal characteristics, layout, content, use), and used Likert scales plus free-text. Invitations and reminders were emailed; one response per family. Data were managed in REDCap and analyzed quantitatively in Stata 17 (proportions, means, SDs), with qualitative responses coded to illustrate themes. Issuance during study: 159 family reports were issued: 31 de novo autosomal dominant, 3 inherited autosomal dominant, 23 autosomal recessive, 3 X-linked inherited, 17 VUS, and 82 uninformative.

- Eight co-designed plain language genomic report templates were created covering diagnostic and non-diagnostic outcomes and implemented nationally in acute pediatrics. - Uptake and response: Of 154 families and 107 clinicians issued reports, 51 families (33%) and 57 clinicians (53%) responded to surveys (42 family and 53 clinician surveys analyzed after exclusions for recall/use). - Helpfulness and comprehension: 82% of families found their report helpful for understanding their child’s result. 85% accurately recalled whether a diagnosis was achieved. 80% reported the language was easy to understand; medical terms were explained clearly (families 93%, clinicians 92%). Clinicians judged the language easy for families to understand (92%). - Layout and visuals: The result was easy to find (families 93%; clinicians 100%). Satisfaction with general format was high (families 93%; clinicians 100%). Visual aids were helpful (families 85%; clinicians 92%). Two-thirds of families (68%) found it easy to locate further information sources in the report. - Readability preferences: Families preferred use of tables/graphs (90%). Percentages were preferred over words for conveying risk/predictions (97%); 54% found percentages easier than fractions, with 41% reporting no difference. - Use in clinical workflow: 94% of clinicians found the report helpful in result disclosure, using it at the start (9%), during (49%), and/or end (83%) of consultations. - Sharing and dissemination: 63% of families shared their report, most often with family members (72%) and health professionals (68%). Clinicians reported distributing reports to other care team members and found them useful for care coordination and as a concise record. - Adaptation: 18 clinicians (15%) reported adapting/using the templates in other settings (e.g., outpatient, inpatient, research), with some advocating broader adoption including integration by laboratories. - Practical content considerations: Respondents valued listing involved genetic professionals; some families without a diagnosis wanted more detail on genes/conditions analyzed. Clinicians suggested omitting certain lab identifiers and ensuring community resources are kept up to date.

The study demonstrates that co-designed, plain language genomic test reports can be feasibly implemented at national scale in an acute pediatric program, enhancing understanding and communication for families and aiding clinicians during result disclosure. By applying synoptic structures, patient narratives, and visual aids, templates aligned with user preferences and improved navigability, making results easy to find and content easier to comprehend. Preferences for graphical/tabular information and percentages indicate practical design choices for conveying complex genomic concepts. Broad sharing by families with both relatives and healthcare providers suggests the reports function as effective communication tools beyond the genetics clinic, supporting care coordination. Clinician adaptation of templates in other contexts indicates transferability and potential for wider adoption, including integration into laboratory workflows. These findings address gaps in the literature regarding co-designed, evaluated plain language reports and support the value of patient-centered report design in real-world settings.

Co-designed plain language genomic test reports can be effectively developed and deployed across diverse rare disease outcomes, supporting family understanding and clinician communication during result disclosure. High satisfaction with layout, language, and visuals, widespread sharing, and clinician adaptation highlight clinical utility and scalability. Future work should refine visual presentation strategies, enable dynamic and personalized content (including condition- and gene-specific resources), integrate reports into electronic health records and laboratory systems, and evaluate impact across broader populations, healthcare settings, and over longer follow-up.

- Sample characteristics and size: Despite reasonable response rates, sample sizes limited subgroup analyses. Family respondents were predominantly highly educated with reasonable financial means, potentially reducing generalizability. Health literacy and numeracy were not assessed. - Selection and recall: It was not known whether all families consistently received their personalized reports at disclosure; some did not recall receiving a report and were excluded from detailed questions. - Language and accessibility: Surveys captured only those able to respond in written English; experiences of families with low English proficiency or low literacy were not represented, despite plain language review of templates. - Content expectations: Families without a diagnosis expressed desire for more detailed information on genes/conditions analyzed; balancing completeness with clarity remains challenging. - Implementation challenges: Practical issues in scaling within laboratories and clinical services (e.g., keeping community resources current, omitting unnecessary lab identifiers, maintaining one-page format). Transition to electronic delivery and integration into records may improve access but requires further development. - Scope: Conducted in an acute pediatric setting; findings may not directly generalize to other populations or settings without adaptation.