Sanofi company Genzyme and Veracyte Inc., a molecular diagnostics company pioneering the emerging field of molecular cytology, have expanded the availability of Afirma Thyroid FNA Analysis, an innovative approach for improved thyroid nodule diagnosis, to patients across the United States.

The Afirma Thyroid FNA Analysis combines expert cytopathology assessment of thyroid nodule fine needle aspiration (FNA) samples, with the Afirma Gene Expression Classifier, a novel genomic test, used to resolve inconclusive results and thus help patients whose nodules are actually benign avoid unnecessary surgery. Two independent clinical studies to date have shown that the Afirma Gene Expression Classifier can reclassify patients with indeterminate thyroid FNA results as “benign” with the same degree of accuracy as a benign cytopathology diagnosis.

Thyroid cancer is the fastest-growing cancer in the US, with an estimated 56,460 new cases expected in 2012, according to the American Cancer Society. An estimated 450,000 thyroid nodule FNAs – a minimally invasive procedure to extract cells for examination under a microscope – are performed in the US each year to rule out cancer. Thyroid nodule FNAs are challenging to interpret, however, producing ambiguous results in up to 30 percent of cases. Current guidelines recommend that most patients with ambiguous results undergo thyroid resection for a definitive diagnosis. Post-surgical results, however, show that only 20-30 per cent of these patients have cancer.

“Until now, most patients with ‘indeterminate’ thyroid nodules based on cytology went to surgery to help ensure that a cancer was not missed,” said Dr Bryan Haugen, professor of medicine and pathology at the University of Colorado School of Medicine. “Now, the Afirma Gene Expression Classifier can potentially help tens of thousands of patients with inconclusive thyroid nodules each year avoid unnecessary surgery and improve patient outcomes.”

Genzyme is an established leader in endocrinology globally, developing and marketing Thyrogen (thyrotropin alfa for injection) for patients with well-differentiated thyroid cancer. Thyrogen is used as an adjunctive diagnostic tool for serum thyroglobulin (Tg) testing with or without radioiodine imaging. Thyrogen is also approved in the US and Europe as an adjunctive treatment for radioiodine ablation of thyroid tissue remnants in patients who have undergone a near total or total thyroidectomy for well-differentiated thyroid cancer and who do not have evidence of metastatic thyroid cancer.

“The addition of the Afirma Thyroid FNA Analysis represents a strong strategic fit for our Thyrogen business and addresses a significant unmet need. The combined offering represents a complete personalized solution that really advances thyroid nodule assessment and the value of Thyrogen in the management of patients diagnosed with thyroid cancer,” said Genzyme’s VP and GM of Endocrinology, Alicia Secor. “We expect many patients with thyroid nodules will want to ask their physicians about the Afirma Thyroid FNA Analysis at the beginning of the diagnostic process.”

A recent economic impact study, published in the Journal of Clinical Endocrinology & Metabolism, concluded that routine use of the Afirma Gene Expression Classifier in the US would prevent tens of thousands of avoidable surgeries each year and would provide more than $600 million in direct medical savings over 5 years. The test is now covered for Medicare patients nationwide.

Genzyme accomplishes goals through world-class research and with the compassion and commitment of our employees. Its focus is on rare diseases and multiple sclerosis, dedicated to make a positive impact on the lives of the patients and families they serve.

Veracyte Inc., is pioneering the emerging field of molecular cytology, applying molecular biomarkers to cytology samples in order to improve disease diagnosis by clarifying indeterminate results obtained from current methods.