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Germline multigene panel testing in acute and chronic pancreatitis
Mitchell L Ramsey1, Brandie Heald2, Yevgeniya Gokun3
1Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America.
Plos One
|August 22, 2024
Summary
Germline genetic testing for pancreatitis reveals higher positive results in younger patients. However, clinically meaningful findings occur across all ages, recommending genetic counseling for everyone.
Area of Science:
- Genetics
- Gastroenterology
- Medical Diagnostics
Background:
- Germline genetic testing is recommended for young idiopathic pancreatitis patients.
- Consensus is lacking for patients over 35.
- This study analyzes genetic testing results across age groups.
Purpose of the Study:
- To analyze germline genetic testing results in patients with pancreatitis.
- To compare results based on patient age.
- To identify factors associated with positive genetic testing for pancreatitis.
Main Methods:
- Germline multigene testing for pancreatitis susceptibility genes (CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1) was performed.
- Data from 2,468 subjects were evaluated.
- Multivariable logistic regression identified factors linked to positive pancreatitis panels.
Main Results:
- Prevalence of positive genetic results for acute or chronic pancreatitis was higher in patients <35 years (32.1%) vs. ≥35 years (24.5%).
- Clinically meaningful results were more frequent in younger patients (10.8% vs. 5.4%).
- Positive family history strongly predicted positive results (OR 8.59), while older age at testing decreased odds (OR 0.89 per 5 years).
Conclusions:
- Younger individuals with a family history of pancreatitis show the highest prevalence of pathogenic variants.
- Clinically meaningful results are found in older individuals, indicating broader utility.
- Genetic counseling and testing should be considered for all age groups presenting with pancreatitis.
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