Concept and benchmarks for assessing narrow-sense validity of genetic risk score values.
作者： Hongjie Yu , Zhuqing Shi , Yishuo Wu , Chi‐Hsiung Wang , Xiaoling Lin
DOI: 10.1002/PROS.23821
关键词:
摘要: BACKGROUND While higher genetic risk score (GRS) has been statistically associated with increased disease (broad-sense validity), the concept and tools for assessing validity of reported GRS values from tests (narrow-sense validity) are underdeveloped. METHODS We propose two benchmarks narrow-sense GRS. The baseline benchmark requires that mean value in a general population approximates 1.0. calibration assesses agreement between observed risks estimated (GRS values). assessed performance three prostate cancer (PCa) tests, derived SNP panels increasing stringency selection criteria, PCa chemoprevention trial where 714 3225 men were diagnosed during 4-year follow-up. RESULTS Panels 1, 2, 3 all risk; P = 5.58 × 10-3 , P = 1 × 10-3 P = 1.5 × 10-13 respectively validity). For validity, among without was 1.33, 1.09, 0.98 3, (baseline benchmark). benchmark, calculated seven groups <0.3, 0.3-0.79, 0.8-1.19, 1.2-1.49, 1.5-1.99, 2-2.99, ≥3. slope (higher is better) 0.15, 0.12, 0.60, bias (lower 0.08, 0.02 respectively. CONCLUSION Performance differed considerably tests. recommend be evaluated using before clinical implementation individual assessment.
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