Abstract
BackgroundFamily health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation.MethodsWe compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes.ResultsThe dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap—1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history.ConclusionHereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk.
Highlights
Health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer
The National Comprehensive Cancer Network (NCCN) and the American College of Medical Genetics and Genomics (ACMG) have each curated sets of clinical practice guidelines (CPG) based on Family health history (FHx) designed to support medical professionals in assessing FHx risk for hereditary cancer [10,11,12]
The results demonstrated that chatbots are an effective tool for collecting FHx and that there is an interest in the population for understanding hereditary cancer risk
Summary
Health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. An estimated 20% of primary care patients have family histories that indicate increased risk of developing a hereditary cancer [5, 9]. To improve overall cancer outcomes for patients and their families, it is important to conduct an effective evaluation of hereditary cancer clinical practice guidelines (CPG). Hereditary cancer CPGs are complicated and frequently updated Another obstacle is that providers have insufficient time to collect and analyze FHx during a patient visit [15, 16]
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