JMIR Publications

ABSTRACT

Background:

The primary aim of genetic counseling at a human genetics centers is to empower individuals at risk for hereditary diseases to make informed decisions regarding their health. In Germany, genetic counseling sessions typically last approximately one hour and provide highly personalized information by a specialist in human genetics. Despite this, many counselees report a need for additional support following the counseling session.

Objective:

This study introduces GENIE, a mobile application designed to assistant individuals in the post-counseling phase, with a focus on hereditary breast and ovarian cancer. GENIE delivers expert-curated, personalized information tailored to the user's health and family circumstances. The content is presented through predefined dialogues between the user and the mobile assistant, aiming to extend the benefits of genetic counseling beyond the initial session.

Methods:

A wizard-of-oz study was conducted to evaluate a functional prototype of GENIE. Six breast cancer patients, at least two years post-diagnosis, participated in the study. Participants were given access to the application for a minimum of one week. The evaluation was based on their interaction with GENIE, which was personalized using the details of a fictitious patient. Data collection included semi-structured interviews and a questionnaire to assess usability and content quality.

Results:

The analysis of the interview and questionnaire data indicated high usability for GENIE, with a mean System Usability Score of 75.33. Participants highlighted the credibility and relevance of the content, noting its alignment with the fictitious patient’s scenario. However, areas for improvement were identified, particularly concerning the app's design.

Conclusions:

The findings suggest that a mobile application like GENIE can provide valuable support to individuals in the post-counseling phase of genetic services. GENIE offers distinct advantages over LLMs, as the information it provides is carefully curated by human experts, minimizing the risk of inaccuracies or hallucinations and significantly enhancing the system's credibility. Future work will focus on the implementation of a comprehensive personalization engine, redesign of the user interface, and the execution of a large-scale, two-arm randomized intervention study to validate GENIE’s effectiveness.