Genetic testing for indeterminate thyroid cytology: review and meta-analysis

Area of Science:

• Endocrinology
• Oncology
• Molecular Diagnostics

Background:

• Thyroid cancer is the most common endocrine malignancy with rising incidence.
• 20-25% of thyroid nodule cytological evaluations yield indeterminate results, complicating diagnosis and treatment decisions.
• Distinguishing between malignant and benign indeterminate nodules is crucial to avoid unnecessary surgeries.

Purpose of the Study:

• To critically analyze the evidence for four available molecular diagnostic tests for indeterminate thyroid cytologies.
• To evaluate the technical characteristics, clinical performance, and accuracy of these molecular tests.
• To inform clinical decision-making and healthcare policy regarding the use of molecular testing in thyroid nodule management.

Main Methods:

• Systematic review and meta-analysis of molecular diagnostic tests for indeterminate thyroid cytologies.
• Assessment of theoretical accuracy based on intended clinical use (rule-in vs. rule-out).
• Evaluation of the quality of reported evidence and clinical effectiveness of the tests.

Main Results:

• Analysis of the theoretical accuracy and impact on clinical decisions for four molecular tests.
• Critical appraisal of the quality of evidence supporting each molecular test.
• Assessment of the real-world accuracy and effectiveness of these tests in clinical practice.

Conclusions:

• Molecular testing offers a valuable solution for indeterminate thyroid nodules, aiding in surgical decision-making.
• This review provides crucial data on test performance and evidence quality to support informed clinical choices.
• Findings support the consideration of molecular testing as a public health necessity to reduce surgical risks and costs.