Genomic Approach Evaluates Thyroid Nodules

A test based on molecular diagnostics has been developed that identifies genomic patterns in thyroid tissue.

This genomic approach is being tested in evaluating suspicious thyroid nodules and may eliminate the need for tens of thousands of unnecessary thyroid surgeries every year. Cells extracted from suspicious nodules in the thyroid, are often found to be benign.

Doctors at the University of Colorado School of Medicine (Aurora, CO, USA), have been studying the use of a thyroid test called Afirma that identifies genomic patterns in cells that would reliably confirm that a patient's sample has no cancer present. The findings confirmed the test's premise, that when certain patterns appear among 142 thyroid genes, out of tens of thousands, the odds are very high, in fact more than 95%, that there is an absence of malignancy. Although that is a high probability, it is not a certainty. However, those odds are similar, to when an expert pathologist looks at the cells and determines there is no cancer, but they would be looking at a biopsy this time without surgery.

The test was developed by Veracyte, (South San Francisco, CA, USA) and is being marketed on a limited basis and the company plans additional commercialization in early 2011. The Veracyte thyroid program includes a prospective multicenter clinical validation trial currently underway at more than 30 community sites and a dozen academic medical centers across the United States.

The need for diagnostic clarification is borne out by the estimated 450,000 thyroid biopsies are performed each year in the US, yet only 37,000 new cases of thyroid cancer are diagnosed. An estimated 100,000 thyroidectomies are performed every year on benign nodules.

Bryan Haugen, MD, from the University of Colorado, said, "When we see test results showing the right patterns we can say with a great deal of certainty that, despite initial concerns, the patient does not have cancer.” The findings of the study were presented at the International Thyroid Conference in Paris, France in September 11-16, 2010.

Related Links:
University of Colorado School of Medicine
Veracyte