JMIR Publications

ABSTRACT

Background:

In Hereditary Breast and Ovarian Cancer (HBOC) syndrome communication of genetic test results is essential to cascade genetic screening, i.e., systematic identification and testing blood relatives of known mutation carriers to determine if they also carry the pathogenic variant, and propose appropriate preventive and clinical management options. However, up to 50% of blood relatives are unaware of relevant genetic information, suggesting that potential benefits of genetic testing are not communicated effectively within family networks. Technology could facilitate communication and genetic education within HBOC families.

Objective:

This study will develop a digital health platform designed to assist with family communication and dissemination of accurate and credible information among Swiss and Korean HBOC families. Specific aims are to develop the K-CASCADE research infrastructure in Korea by expanding an existing research infrastructure developed by the Swiss CASCADE Consortium; develop a digital platform to support the communication of cancer predisposition for Swiss and Korean HBOC families, based on linguistic and cultural adaptation of the Family Gene Toolkit; evaluate the efficacy of the digital platform on primary (family communication of genetic test results and cascade genetic testing), and secondary (psychological distress, genetic literacy, active coping, decision making) outcomes; and explore effectiveness of the platform using the RE-AIM framework (reach, effectiveness, adoption, implementation, maintenance).

Methods:

The digital platform will be available in French, German, Italian, Korean, and English, and for web and mobile access. K-CASCADE, a Korean database of HBOC families (mutation carriers and relatives) will be created based on the Swiss CASCADE Consortium database. Focus groups in each country and linguistic region will be used to better identify the local cultures and context with 20-24 HBOC mutation carriers and relatives and 6-10 healthcare providers involved in genetic services (counseling and testing). Efficacy of the platform against a comparison website will be assessed in a randomized trial with 104 HBOC mutation carriers (52 in each study arm). Effectiveness of the platform will be assessed with survey data collected from participating HBOC families and healthcare providers.

Results:

The study is currently recruiting participants. Descriptive and bivariate analyses (Pearson correlations, chi-square test, t-test) will assess associations between demographics and clinical characteristics. Regression analyses will be done for paired data of probands and relatives and explore whether predictors are in direct, mediating, or moderating relationship to an outcome. Thematic analysis will be used for interview data.

Conclusions:

Adapting existing interventions, rather than developing new ones takes advantage of previous valid experiences without duplicating efforts. Culturally sensitive, digital platforms that enhance family communication and understanding of genetic cancer risk are extremely timely and relevant. The study will create a resource-effective international research platform that can be scaled-up to large patient numbers. Clinical Trial: NCT04214210; SNCTP000003661; KCT0005643