Search Behavior Regarding Cancer Susceptibility Genes: Insights from A Clinical Decision Support Tool for Gene Specific Penetrance
ABSTRACT
Background:
Genetic testing for germline cancer susceptibility genes is widely available. The Ask2Me.org tool is a clinical decision support tool that provides evidence-based risk predictions for individuals with pathogenic variants in cancer susceptibility genes.
Objective:
The aim of this study was to understand the search behavior of the Ask2Me.org tool users, identify the patterns of queries entered, and discuss how to further improve the tool.
Methods:
We analyzed the Ask2Me.org user-generated queries collected between December 12, 2018, and October 8, 2019. The gene frequencies of the user-generated queries were compared with previously published panel testing data to assess the correspondence between usage and prevalence of pathogenic variants. The frequencies of prior cancer in the user-generated queries were compared with the most recent US population-based cancer incidence.
Results:
A total of 10,085 search queries were evaluated. The average age submitted in the query was 48.8 ± 16.5 years, and 84.1% of submitted queries were for females. BRCA2 (16.6%), BRCA1 (16.1%), CHEK2 (9.9%), ATM (6.6%), and APC (4.9%) were the top five genes searched by users. There was a strong linear correlation between genes queried by users and the frequency of pathogenic variants reported in published panel testing data (r = 0.95, r2 = 0.90, P<.001). Over half of the queries (53.0%) included a prior personal history of cancer. The frequencies of prior cancers in the queries on females were strongly correlated with US cancer incidences (r = 0.97, r2 = 0.95, P<.001), while the same correlation was weaker among the queries on males (r = 0.69, r2 = 0.47, P=.02).
Conclusions:
The patients entered in the Ask2Me.org tool are a representative cohort of patients with pathogenic variants in the US. While a majority of the queries were on breast cancer susceptibility genes, users also queried lower prevalence genes, which may represent a transformation from single gene testing to multigene panel testing. Due to these changing tides, more efforts are needed to improve evidence-based clinical decision support tools to better aid clinicians and their practice.
Citation
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