4 June 2019 - - US-based genomic diagnostics company Veracyte, Inc. (NASDAQ: VCYT) has presented new data demonstrating the potential for its Afirma Xpression Atlas genomic test to guide targeted treatment selection for patients with a rare but aggressive form of thyroid cancer concurrent with diagnosis by the company's Afirma Genomic Sequencing Classifier, the company said.
The findings advance physicians' ability to answer multiple clinical questions for their thyroid patients using a single, minimally invasive sample. They were presented at the American Society of Clinical Oncology annual meeting, which is being held May 31-June 4, 2019 in Chicago.
Researchers used the Afirma XA to conduct RNA sequencing on 90 thyroid fine needle aspiration samples that had been diagnosed with medullary thyroid cancer through the Afirma GSC.
The cohort was derived from nearly 30,000 sequential samples that were indeterminate or suspicious for cancer following traditional cytopathology testing.
The researchers found that the Afirma XA identified a gene variant or fusion in 74% of the MTC cases and that 99% of these cases had one or more variants or fusions RET, KRAS, HRAS and/or BRAF alterations that are targeted by new therapies that are currently in clinical trials or early stage development.
The Afirma GSC and Xpression Atlas provide physicians with a comprehensive solution for a complex landscape in thyroid nodule diagnosis and individualization of care. Veracyte developed the Afirma GSC with RNA whole-transcriptome sequencing and machine learning.
The test helps identify patients with benign thyroid nodules among those with indeterminate cytopathology results in order to help patients avoid unnecessary diagnostic thyroid surgery, while also identifying patients with MTC.
The Afirma XA provides physicians with genomic alteration content from the same fine needle aspiration samples that are used in Afirma GSC testing and may help physicians decide with greater confidence on the surgical or therapeutic pathway for their patients. The Afirma XA includes 761 DNA variants and 130 RNA fusion partners in over 500 genes that are associated with thyroid cancer.
The American Cancer Society estimates that 54,070 people in the United States will be diagnosed with thyroid cancer this year. Medullary thyroid cancer, which is more difficult to find and treat, makes up approximately 4% of all thyroid cancers.
Each year in the United States approximately 525,000 patients undergo FNA biopsies to evaluate thyroid nodules for cancer.
Up to 30% of these patients receive indeterminate results meaning they are not clearly benign or malignant and, historically, most were directed to diagnostic surgery even though 70% to 80% of the time the nodules ultimately proved to be benign.
Veracyte (NASDAQ: VCYT) is a leading genomic diagnostics company that improves patient care by providing trustworthy and actionable answers to challenging clinical questions.
The company's products uniquely combine advanced genomic technology, clinical science and machine learning to provide answers that give physicians and patients a clear path forward, informing both diagnosis and treatment decisions without the need for costly, risky surgeries that are often unnecessary. 
Since its founding in 2008, Veracyte has commercialised five genomic tests, which are transforming the diagnosis of thyroid cancer, lung cancer and idiopathic pulmonary fibrosis. Veracyte is based in South San Francisco, California.