Biomedical
Evaluation and comparison of hereditary Cancer guidelines in the population
Peer Reviewed
Abstract
Background Family 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. Methods We 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. Results The 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. Conclusion Hereditary 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.
Key Questions and Answers
What is the significance of family health history in identifying hereditary cancer risk?
Family health history is an effective tool for identifying individuals at risk for hereditary cancers, which constitute an estimated 5–10% of all cancer cases. Individuals with hereditary cancer syndromes often face a higher risk of developing cancer at a younger age and may be susceptible to multiple cancer types.
How do the ACMG and NCCN guidelines differ in evaluating hereditary cancer risk?
The study found significant overlap between ACMG and NCCN guidelines, with 1,179 probands meeting criteria from both organizations. However, disparities were noted, particularly in the criteria for colorectal and endometrial cancers. This suggests that while both guidelines are useful, they may emphasize different aspects of family health history in assessing risk.
What role do technological tools play in applying clinical practice guidelines?
The integration of chatbots, ontologies, and web services can enhance the efficiency of applying clinical practice guidelines. These tools assist in systematically collecting and evaluating family health history, thereby improving the identification of patients at risk for hereditary cancers.
Why is it important to use both ACMG and NCCN guidelines in evaluating hereditary cancer risk?
Given the differences in criteria, especially concerning certain cancer types, utilizing both ACMG and NCCN guidelines provides a more comprehensive assessment of hereditary cancer risk. This combined approach ensures that individuals who might be flagged by one set of guidelines but not the other are still identified and can receive appropriate genetic consultation.
