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MODY Probability Calculator Is Suitable for MODY Screening in China: A Population-based Study
Jing Zhao1, Yan Chen2, Fuhui Ma3
1College of Life Sciences, University of Chinese Academy of Sciences, Beijing 101408, China.
Journal of the Endocrine Society
|April 2, 2024
Summary
Maturity-onset diabetes of the young (MODY) requires genetic testing for optimal treatment. The MODY probability calculator (MPC) shows better performance than traditional criteria for identifying MODY patients aged 15-35.
Area of Science:
- Genetics
- Endocrinology
- Diabetes Research
Background:
- Optimal treatment for maturity-onset diabetes of the young (MODY) necessitates accurate genetic testing.
- Effective screening strategies for MODY in China are not well-established.
Purpose of the Study:
- To validate the performance of current screening strategies in identifying patients with MODY.
- To assess the effectiveness of traditional MODY criteria and the MODY probability calculator (MPC) in a Chinese type 2 diabetes cohort.
Main Methods:
- Analyzed 14 MODY genes in 1911 type 2 diabetes patients (ages 15-35).
- Evaluated variants using American College of Medical Genetics and Genomics guidelines.
- Simulated traditional MODY criteria and MPC to assess their patient selection capabilities.
Main Results:
- Identified 42 participants with pathogenic/likely pathogenic variants.
- Traditional criteria showed low sensitivity (19.0%) and high missing rate (81.0%).
- MPC with an optimal cut-off of 40.7% demonstrated improved sensitivity (54.8%) and PPV (6.1%), with a 45.2% missing rate.
Conclusions:
- The MODY probability calculator (MPC) outperforms traditional criteria in sensitivity and positive predictive value for MODY screening.
- Recommended routine genetic testing for type 2 diabetes patients aged 15-35 with an MPC probability >40.7% to ensure access to optimal MODY treatment.
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