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

Communicating genomic test results effectively to families and healthcare professionals without specialized genetics training is challenging. Existing laboratory reports often use technical language that hinders comprehension, especially for individuals with low literacy or when dealing with ultra-rare diseases. This poses significant challenges, as more health professionals interpret genomic test outcomes. To improve understanding and communication, plain language summaries of genomic test results have been proposed. While the concept is not new, there's a lack of evidence-based guidelines on design, content, and optimal use of these reports. Most published examples lack co-design or real-world evaluation. This study addresses this gap by co-designing, implementing, and evaluating plain language genomic test reports in a real-world acute pediatric setting, aiming to improve patient and family understanding and engagement with genomic test results and clinical implications.

Existing literature explores the development and potential use of plain language genomic test reports in clinical settings. However, many studies lack co-design or are limited to single genetic conditions, with evaluations often relying on hypothetical scenarios rather than real-world data. Professional guidelines primarily focus on the content of laboratory reports, neglecting the need for patient-friendly summaries. Studies demonstrating the involvement of parents and families in the design process to optimize report layout and content are available, but these often lack detailed evaluations in diverse clinical settings. The need for a completely revised, patient-friendly report, potentially alongside existing laboratory reports, is highlighted, with recommendations for co-design processes to develop adaptable templates.

This study employed a mixed-methods approach. First, plain language genomic test report templates were co-designed through consultation with patient groups, plain language experts, educators, and genetic health professionals. Eight templates were created, encompassing different test outcomes in rare diseases (six for diagnoses and two for inconclusive results). These templates were then implemented in a national pediatric ultra-rapid genomic testing program (Acute Care Genomics study). The study involved 159 families. Two online surveys were then deployed to evaluate family and clinician experiences with the reports. The family survey assessed report layout, content, and ease of use, as well as preferences for presenting information (e.g., percentages vs. fractions). The clinician survey focused on the reports' utility in result disclosure, adaptation for other settings, and overall helpfulness. Quantitative data were analyzed using descriptive statistics and Likert scales, while qualitative data from open-ended questions were analyzed thematically. Ethical approvals were obtained from relevant research ethics committees.

A total of 159 family reports were issued during the study. The response rate for the family survey was 33% (51 out of 154 families), and 53% (57 out of 107 clinicians) responded to the clinician survey. Most families (82%) found the reports helpful in understanding their child's test results. A high percentage of families (63%) shared their reports, primarily with family members (72%) and other health professionals (68%). Clinicians reported high satisfaction with the report's layout and clarity, with most finding visual aids helpful. A substantial number of clinicians (15%) adapted the report templates for use in other settings. The majority of families found the language easy to understand and the medical terms clearly explained. Family preferences were found in terms of presentation of data (tables and graphs were preferred, percentages overwhelmingly preferred to fractions). Clinicians often used the reports during result disclosure discussions and provided them as written records to families. Some families expressed a desire for more information, particularly in cases where no diagnosis was reached; clinicians suggested minor improvements like omitting laboratory identification numbers. Both families and clinicians generally felt that the reports did not contain unnecessary information.

The findings demonstrate that co-designed, plain language genomic test reports can be successfully implemented and utilized in a real-world acute pediatric setting. High levels of satisfaction among both families and clinicians highlight the effectiveness of the co-design process in aligning the report's content and presentation with user needs. The broad sharing of reports and adaptation of templates for diverse settings indicates the reports' versatility and practical value. The results support the use of synoptic reporting frameworks and patient narratives in the design of such reports, enhancing comprehension and satisfying both family and clinicians. The preference for visual aids and clear language further underlines the importance of considering cognitive and literacy factors in report design. Although the study revealed some areas for potential improvement, such as providing more comprehensive information in cases without a clear diagnosis and exploring preferences around using fractions versus percentages, the overall positive feedback confirms the significant potential of co-designed plain language genomic test reports in improving patient understanding and shared decision-making.

This study demonstrates the successful co-design, implementation, and evaluation of plain language genomic test reports in a real-world acute pediatric setting. The high satisfaction rates among families and clinicians underscore the importance of a patient-centered approach to report design. The findings support the broader adoption of such reports to improve communication and understanding of complex genomic information, promoting better patient care and shared decision-making. Future research should focus on refining the reports, exploring electronic delivery methods, and evaluating their long-term impact across diverse healthcare settings and populations.

The study's response rates, although relatively high, might not fully represent the experiences of all families and clinicians involved in the program. The sample of families who participated in the study may not be fully representative of the broader population due to higher than average levels of education and socioeconomic status. The co-design process, while comprehensive, might not have captured the perspectives of individuals with extremely low health literacy or limited English proficiency. The study did not assess health literacy or numeracy levels, which could influence the interpretation and understanding of the reports. These limitations suggest the need for future studies to address these aspects and broaden the diversity of research participants.