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

Vargas-Salas S1, Martínez JR2, Urra MS3, Dominguez JM4, Mena N5, Uslar T6, Lagos M7, Henriquez M8, Gonzalez HE9.

Author information

Abstract

Thyroid cancer is the most frequent endocrine malignancy, and its incidence is increasing. A current limitation of cytological evaluation of thyroid nodules is that 20-25% are reported as indeterminate. Therefore, an important challenge for clinicians is to determine whether an indeterminate nodule is malignant, and should undergo surgery, or benign, and should be recommended to follow-up. The emergence of precision medicine has offered a valuable solution for this problem, with four tests currently available for the molecular diagnosis of indeterminate nodules. However, efforts to critically analyze the quality of the accumulated evidence are scarce. This review and meta-analysis is aimed to contribute better knowledge about the four available molecular tests, their technical characteristics, clinical performance, and ultimately to help clinician to make better decisions to provide the best care options as possible. For this purpose, we address three critical topics: i) the proper theoretical accuracy, considering the intended clinical use of the test (rule-in versus rule-out) and the impact on clinical decisions; ii) the quality of the evidence reported for each test; iii) and how accurate and effective have the tests proved to be after their clinical use. Together with the upcoming evidence, this work provides significant and useful information for health-care system decision-makers to consider the use of molecular testing as a public health need, avoiding unnecessary surgical risks and costs.