Biomarker testing for harmful genetic mutations provides the opportunity to identify at-risk individuals who might benefit from risk modification strategies and/or enhanced disease screening. This may translate into preventing disease through risk reduction, prevention of advanced disease through earlier detection, and decreased cancer mortality from detection and treatment of localized disease, says Dennis Holmes, MD, breast cancer surgeon and interim director, Margie Petersen Breast Center at John Wayne Cancer Institute at Providence Saint Johns Health Center in Santa Monica, California.

Heres how biomarkers are currently being used to treat diseases, and what promises they hold.

Acute myeloid leukemia

For more than 40 years, acute myeloid leukemia (AML), a cancer of the blood and bone marrow, has been treated as one disease. The standard of care, which involved two toxic chemotherapy drugs, has not changed much over that time, says Ross Levine, MD, director, Memorial Sloan Kettering Center for Hematologic Malignancies, New York, New York. Most patients, especially older adults, do not respond well or cannot tolerate the treatment. The prognosis for most seniors with AML is very dismal.

However, an endeavor currently under way could improve patient outcomes. In conjunction with the FDA, the Leukemia & Lymphoma Society (LLS) launched a collaboration of cancer centers, pharmaceutical companies, and a genomics provider to design a protocol for the Beat AML Master Trial in October 2016 that will include multiple clinical sites and multiple treatment arms.

The Beat AML Master Trial is the first-ever precision medicine clinical trial in a blood cancer, where multiple drugs are tested simultaneously at multiple clinical sites. With a patient-focused neutral party such as LLS at the center, it eases the way for multiple pharmaceutical companies to join the collaboration to test their agents, Levine says.

Newly diagnosed patients can provide a bone marrow sample to a genomics laboratory and have their specific genetic mutations identified so clinicians can prescribe a more precisely targeted novel therapy matched to their subtype of AML.

Understanding a patients biomarker(s) helps clinicians make better decisions about appropriate drugs for an individual patient by targeting the drivers of the cancer and sparing the healthy cells, Levine explains.This trial aims, for the first time, to use these genetic markers to assign first-line therapy in real time, which we believe will accelerate our ability to get molecularly targeted drugs to AML patients at diagnosis and to accelerate drug development.

Reimbursement for testing is a rapidly moving target. We are waiting to see how the government handles reimbursement of such tests and hope that genetic testing will soon be covered for all cancer patients, Levine says.

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Six diseases reap benefits of biomarkers, genetic tests - ModernMedicine