Researchers at the University of Colorado School of Medicine are advancing efforts to reduce up to 130,000 unnecessary fine-needle aspiration (FNA) biopsies and surgeries for thyroid nodules each year in the U.S. This new approach, led by Dr. Nikita Pozdeyev, Dr. Chris Gignoux, and Dr. Bryan Haugen, aims to better understand the genetic factors contributing to thyroid cancer risk. Supported by an NIH R21 grant, their research will develop personalized management strategies for thyroid nodules and could lead to a clinical trial for a classifier that integrates ultrasound with genetic analysis to improve diagnostic accuracy. Thyroid cancer, the most common endocrine malignancy, often results in ambiguous biopsy outcomes; about 20% of FNAs yield inconclusive results, pushing many patients towards further testing or surgery to confirm whether nodules are benign or malignant. This team hopes to improve diagnostic precision and reduce unnecessary procedures.
The project leverages global biobanks, including the Colorado Center for Personalized Medicine, to create a polygenic risk score (PRS) for thyroid cancer, utilizing data from nearly 2 million individuals. Unlike cancers tied to a single gene, thyroid cancer involves a complex interaction of multiple genes, which the researchers aim to untangle through GWAS meta-analysis and computational models. By studying thyroid nodules and broader thyroid traits like hypothyroidism, they hope to identify precise genetic markers of cancer risk. Dr. Haugen notes that advancements like FNA and improved ultrasound imaging have already reduced unnecessary surgeries, yet a more refined approach is still needed. If successful, the polygenic risk score could become a standard tool, helping doctors evaluate nodule malignancy without invasive procedures, greatly benefiting patient care and reducing surgical risks.
