Posts Tagged ‘panel sequencing’

Weill Cornell Medicine to Expand Tumor Exome Test (EXaCT-1 identifies alterations within tumors) to Thousands of Advanced Cancer Patients

Reporter: Aviva Lev-Ari, PhD, RN


Tumor cells from a biopsy of a patient enrolled in the EXaCT-1 pilot program that investigators are culturing in the lab for further biologic studies and drug testing.
Image credit: Dr. Loredana Puca

NEW YORK (November 13, 2015) — A powerful new test that can reveal untapped therapies for patients with advanced cancers by scanning thousands of their genes will soon be available for patients at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center. The test, EXaCT-1, identifies alterations within tumors — some of which drive cancerous growth — on a magnitude up to hundreds of times greater than similar technologies designed to pinpoint the most precise ways of treating the disease.

Weill Cornell Medicine recently received approval for EXaCT-1 by the New York State Department of Health. The test was developed by the institutions’ precision medicine team. In May, the team published findings on its first 97 patients who underwent the test and found that scanning a patient’s tumor to look for any genomic mutations — rather than limiting the screen to mutations commonly associated with a given patient’s tumor type — worked. In 92 percent of cases in the pilot program, the precision medicine team was able to recommend new treatment options based on the test’s findings. Now that the state has approved the test, precision medicine leaders will begin the process to implement it for large-scale clinical use for oncology patients treated at NewYork-Presbyterian/Weill Cornell. Until that time, patients with advanced cancers will be able to access EXaCT-1 through the Caryl and Israel Englander Institute for Precision Medicine at Weill Cornell Medicine, the research enterprise of the two institutions’ joint precision medicine efforts.

Unlike these focused tests, typically called panel sequencing, the EXaCT-1 assay takes an unbiased, exploratory look at more than 21,000 genes in cells both healthy and malignant, allowing researchers to find alterations in the cancer-development process in unexpected regions of the exome, where DNA is transcribed into RNA. This type of test, known as whole exome sequencing, can be effective in advanced-stage patients for whom other treatments have failed because it uncovers mutations that the less comprehensive tests miss. In practice, this means, for example, that a patient with bladder cancer whom EXaCT-1 shows to share a mutation associated with breast cancer might benefit from a drug typically prescribed to fight the latter type of tumor.

Dr. Olivier Elemento
Photo credit: Roger Tully

“That’s the nice thing about sequencing the entire tumor genome – we cover genes that other tests will miss,” said Dr. Olivier Elemento, head of the Englander Institute for Precision Medicine’s computational biology group, an associate professor of physiology and biophysics and head of the laboratory of cancer systems biology in the HRH Prince Alwaleed Bin Talal Bin Abdulaziz Al-Saud Institute for Computational Biomedicine at Weill Cornell. “This test is ideal for patients with advanced cancer because it allows us to identify mutations that may be related to the resistance of their disease, and helps us to pinpoint the best way to treat them.”

The screen requires a blood sample and a sample of the patient’s tumor. Computational biologists at the Englander Institute analyze the data and generate patient-and physician-friendly reports that summarize the key clinical and genetic findings. Once the precision medicine team has reviewed the results, it consults with the patient’s oncologist at NewYork-Presbyterian/Weill Cornell to help decide which treatment options and clinical trials may best target the patient’s disease.

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