Recommendations for designing genetic test reports to be understood by patients and non-specialists

Genetic and genomic testing is playing an increasing role in routine healthcare, with results often ordered and interpreted by non-specialist clinicians and accessed by patients themselves. Under shared decision-making and less paternalistic models of care, patients seek clear, unambiguous information about their genetic results and implications. However, genetic reports frequently involve multiple layers of uncertainty (e.g., testing error and variant significance), which are amplified as broader genomic regions are assessed. Existing guidelines (ACMG, ESHG, ACGS) focus largely on technical reporting details, vary across bodies, and are continually updated, creating a need for clear, context-independent communication within each report. There is limited practical guidance on communicating results effectively to non-experts. This study aimed to develop recommendations for the content, structure, and design of genetic test reports to improve comprehension among patients and non-specialist clinicians.

Prior work highlights several recurring issues in genetic test reporting. First, relevance of content: discrepancies exist between what experts include and what patients value, with patients often seeking concise, actionable information and trusted resources, while some prefer minimal detail. Second, communicating uncertainty: both genetic risk and testing limitations should be conveyed; evidence supports using multiple risk formats, balanced framing, and visuals (e.g., pictograms), though inclusion of false positive/negative rates is desired by clinicians and less studied for patients. Third, evidence and resources: clinicians want citations supporting interpretations; patients value resources about testing, conditions, and others’ experiences. Fourth, language and layout: non-experts prefer plain language; technical jargon can deter engagement, whereas simpler language increases understanding and confidence. Evidence on graphic design/layout is sparse in the academic literature despite visually rich DTC reports; more publicly available research is needed, as visuals can improve comprehension. These gaps motivated user-centred research to generate specific recommendations for patient- and non-specialist-oriented reports.

The study used a qualitative-descriptive, user-centred design with two components. Ethics approval was granted by the University of Cambridge Psychology Research Ethics Committee. Semi-structured interviews (August 2017) were conducted with a convenience sample (n=9; 7 female; mean age 41, SD=12). Participants had varied relationships to genetic testing (four patients, five health professionals; two also patient advocates). Interviews (~90 minutes) explored experiences with genetic reports and reactions to diverse example reports from UK, US, and Europe, including guideline exemplars (ACGS, ACMG, ESHG) and materials from GeneDX, 23andMe, Partners Healthcare, Lineagen, and literature-suggested formats. Topics included visual impression, length, language level, actionability, and trust. A prototype outline informed by the literature was iteratively refined during interviews. Audio was recorded; notes were taken. Using a descriptive qualitative approach with thematic elements, comments with potential reporting recommendations were transcribed, coded, and summarized into themes with minimal interpretation. Two prototype report designs were then developed, incorporating unanimous interview recommendations but differing in tone, text density, and inclusion of a risk graphic. Both prototypes presented a pathogenic result for a fictional condition (Brendt Syndrome) associated with increased bowel cancer risk. Page 1 addressed key user needs; Page 2 contained technical/methodological details. An online survey gathered further feedback from three groups: patients (n=28; 26 female; mean age 41, SD=8; 89% had received a genetic test report for self/family), non-specialist clinicians (n=29; 25 female; mean age 43, SD=12; 86% had professional experience with genetic test reports), and general public (n=49; 35 female; mean age 33, SD=10; 20% had received genetic test results). Participants rated statements on seven-point Likert scales: understanding of results, actions to take, change in risk, trust in correctness, appropriateness of language, appropriateness of appearance/design, and desire to see technical information on Page 2. Free-text responses were collected on remaining questions, trust, appearance/structure, information findability, and comprehension. Free-text data were coded and thematically analyzed using a descriptive qualitative approach.

Semi-structured interviews identified 13 key recommendations (full list in Supplementary Materials), with four unanimous (n=9): use plain language and avoid jargon; make the report’s structure and appearance support understanding; make the result prominent and easy to find; and separate technical/methodological details from the main message. Recommendations clustered into communication style (plain, slightly more personal tone, e.g., “your”), content (three core sections: What the result means; Actions to be taken; Where to find further information/support), and structure/appearance (simple top-to-bottom flow, clear section headings, minimal dense text, careful use of color). Patients emphasized inclusion of technical details but clearly separated, and that reports should not replace clinician discussions. Online survey results showed broadly favorable ratings across both prototypes (graphic-rich vs. text-heavy) and across all respondent groups (patients, clinicians, public). Preferences and themes (26 themes; 478 coded comments) included: desire for more actionable next steps and more information about the condition; support for graphics to explain/contextualize risk; sensitivity to ambiguous phrasing (e.g., “do I have it or not?”) and questions about retesting. Design-wise, respondents preferred simple, linear layouts without columns or dense text, clearly delineated sections, and restrained use of color—color to aid navigation was appreciated, but not for signaling result valence. A prominent dark/grey result box was perceived as foreboding. Communication style themes reinforced plain language on Page 1 versus difficult technical content on Page 2; most still wanted technical details included. The “text” version’s more personal tone was preferred over a brusque style. Trust was influenced by professional appearance and credible sourcing (e.g., NHS), as well as by explicit technical claims (e.g., 99% test sensitivity increased trust). Some noted decreased trust where a variant had not previously been observed in that laboratory. Overall, findings support reports that: provide at-a-glance meaning of results; specify clear, concrete next steps; include trusted links to further information and support (including genetic counseling and peer support); present results neutrally (avoid “positive/negative” labels and avoid color-coding outcomes); and separate technical details for specialists while maintaining patient access.

The study addresses the gap between technical reporting standards and practical guidance for communicating genetic test results to non-experts. By involving patients, non-specialist clinicians, and the public, the findings demonstrate that comprehension and trust improve when reports prioritize: plain, unambiguous language; prominent presentation of the result and its implications; explicit, actionable next steps; and curated, trustworthy resources. Separating technical/methodological details enhances accessibility without sacrificing completeness for specialists or the medical record. Preferences for simple, linear layouts and cautious use of color underscore the role of design in comprehension and affect. Sensitivity to ambiguity highlights the need for precise result wording and balanced presentation of uncertainty, including both genetic risk and test limitations. Trust was shaped by professional presentation and transparent technical performance metrics. Collectively, these insights refine high-level report content and structure to better serve patients and non-specialist clinicians and complement existing technical guidelines from professional bodies.

This work provides user-centred recommendations and example templates for genetic test reports aimed at patients and non-specialist clinicians. Key contributions include guidance to make results prominent and neutrally worded; use plain language; include clear sections on what the result means, recommended actions, and trusted sources of further information and support; and separate but include technical details. These recommendations offer a foundation for report content and structure across settings. Future work should engage diverse patient and clinician groups to tailor templates to specific test types and results, evaluate comprehension and outcomes in real-world deployments, and further investigate the role of visuals and layout in communication effectiveness.

The interview phase used a small convenience sample (n=9), which may limit generalizability. The online survey recruited via support groups/advocacy organizations and an online participant pool, which may introduce selection biases. Prototypes featured a fictional condition and may not capture complexities of specific real-world scenarios. While both prototypes were favorably rated, results pertain to the tested formats and populations; further work is needed to validate and tailor recommendations across test types, conditions, and healthcare contexts. Evidence on optimal use of graphics and layout remains limited and warrants additional study.