Creating genetic reports that are understood by nonspecialists: a case study

Area of Science:

• Medical Genetics
• Health Communication
• Human-Computer Interaction

Background:

• Genetic testing reports require clarity for non-specialists, including patients.
• Existing clinical reports may not effectively communicate complex genetic information.
• Patient comprehension is crucial for informed decision-making in genetic testing.

Purpose of the Study:

• To assess the feasibility of creating patient-friendly genetic reports for cystic fibrosis carrier testing.
• To evaluate the communication efficacy and comprehension of user-centered reports compared to standard clinical reports.
• To refine a previously developed generic report template for specific genetic testing scenarios.

Main Methods:

• A user-centered design process involving three rounds of interviews with 30 participants to identify and rectify usability issues.
• An evaluation involving 193 participants comparing newly developed reports with standard clinical reports.
• Assessment of subjective comprehension, risk probability comprehension, and perceived communication efficacy.

Main Results:

• User-centered reports were rated as significantly clearer and easier to understand than standard reports.
• Participants found the new reports more effective in communicating key genetic information.
• While overall risk probability knowledge was equivalent, perception of these probabilities differed between groups.

Conclusions:

• A rapid user-centered design process, starting with a patient-friendly template, can produce more effective genetic reports.
• These enhanced reports improve communication of critical genetic information for patients.
• The developed user-centered reports are being integrated into clinical practice for improved patient care.