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    Seven diseases benefiting from genetic tests


    Prostate cancer

    Genetic testing is also being used to identify inherited genetic mutations related to prostate cancer, particularly among men with metastatic prostate cancer, says Veda N. Giri, MD, associate professor and director of cancer risk assessment and clinical cancer genetics, Sidney Kimmel Cancer Center at Thomas Jefferson University, Philadelphia.

    If a man undergoes genetic testing and an inherited mutation is identified, his male and female family members may want to consider genetic testing to identify cancer risks and screening recommendations, Giri says. Men with BRCA1 and BRCA2 gene mutations are currently recommended by the NCCN to have prostate cancer screening starting at age 45. Tailoring screening for prostate cancer based on genetic test results has the potential to reduce the cost of care.

    Genetic information is also being used to select specific patients for certain therapies, called precision medicine, such as PARP inhibitors for men with a BRCA gene mutation or DNA repair gene mutations, Giri says. This type of treatment has the potential to provide the right care to the right patient.

    Non-small cell lung cancer


    Each patient’s cancer is unique. Providers need knowledge about the genetic makeup of an individual’s cancer and its micro-environment to best tailor care, says Abhisek Swaika, MD, board-certified oncologist/hematologist, Queens Medical Associates, Queens, NY.

    For patients with advanced stage/metastatic non-small cell lung cancer, NCCN recommends testing for specific biomarkers in tumor samples. Treatment is then appropriately selected for any specific mutations detected, says Swaika. Some specific biomarkers include EGFR, ALK, ROS-1, PD-L1, and the BRAF mutation—which was just approved by the FDA as a biomarker in June 2017.

    “Drugs developed to target these specific indicators have demonstrated better results than traditional chemotherapeutic agents,” Swaika says. “Side effects differ and are generally more manageable and often less severe. Patients’ quality-of-life measures are also reportedly better.”

    Ongoing research to validate these tests in blood samples, also referred to as liquid biopsies, may help to eliminate the need for tissue biopsies, thus decreasing the risk of invasive procedures and lowering healthcare costs Swaika says.

    Biomarker testing on lung tumor samples has become more readily available and standardized as advocated by national guidelines, so reimbursement opportunities are growing and there is increased use, Swaika says.

    Next: Melanoma



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