A genomic approach developed and tested by scientists at the Icahn School of Medicine at Mount Sinai (New York City, NY) helped support decision-making and led to therapeutic recommendations for a group of patients included in a study.
The implementation of personalized medicine that includes genomic profiling and considerations of patients’ epigenetics have quickly been used as a part of cancer care capable of significantly improving health outcomes. However, the exact ways in which physicians can best identify these factors has been subject to significant variability and high cost.
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For the personalized cancer therapy program at Mount Sinai, researchers led by Rong Chen, PhD, Mount Sinai, generated data on the genetic makeup of both patients and their tumors in order to determine whether this in-depth characterization would lead to improved results. To test this approach, they analyzed the whole exomes, gene expression, copy number variation, and gene fusions of both tumor samples and matched normal samples for an initial group of 46 patients with a wide range of cancer types.
In 42 of the 46 cases, genomic profiling performed by the researchers led to medically actionable genetic variants with implications about drug response, toxicity, or prognosis (Mean 17.3 cancer-relevant somatic mutations per patient) that other commercially available targeted cancer panels were unable to detect. In all cases, these results were given to patients and their physicians, leading to a change in treatment course in four cases.
Researchers concluded that a comprehensive, integrative genomic approach can significantly enhance genomics-based personalized cancer therapy programs. They also stated that while their approach may be associated with a higher cost, it still has a demonstrated potential to maximize clinical benefit.
“There is tremendous interest in tailoring cancer treatment for each patient, since every tumor has its own unique signature of genetic variants that shape progression and response to therapy,” Dr Chen said commenting on the results. “We launched this program with the idea that a more comprehensive view of that variant signature would make a difference in patient treatment, but even we were surprised by just how much is being missed with current testing.”
