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    Seven diseases benefiting from genetic tests


    Genetic testing is playing a growing role in diagnosing and treating diseases, particularly when it comes to certain cancers and rheumatic conditions. An FDA decision in November 2017 to approve the use of a multi-gene panel to evaluate more than 300 genes in cancer tissue will ensure even broader use of these promising treatment approaches.

    “The FDA’s move will lead MCOs to appraise the clinical utility of these new tests to help determine future healthcare coverage and cost implications,” says Phil Smalley, MD, FRCPC, chief medical director, Wamberg Genomic Advisors, a genetic testing consulting firm and provider.

    CMS has already proposed coverage for the test, the FoundationOne CDx (F1CDx).

    Smalley says potential benefits of genetic testing of cancer tissue specifically include:

    • Sharper diagnostic accuracy
    • Improved treatment selection using precision medicine
    • More patients enrolled in clinical trials and new cancer drug discoveries
    • Better predictions regarding patient survival and improved survival
    • Fewer cases of cancer occurring in family members

    Many studies have already shown that personalized oncology therapies based on tumor genetic biomarkers improve patient outcomes, Smalley says. Even in end-stage cancer patients, some studies show that genomic profiling guided targeted therapies can benefit patients. The recently published Moscato trial showed that 49% of solid tumors carry at least one actionable genetic mutation that can be treated with existing targeted drugs directed at cancers with those specific genetic alterations.

    Here’s a closer look at cancers and other conditions benefiting from genetic testing and biomarkers.

    Breast cancer


    An inherited gene mutation increases risk for breast cancer up to five times the average lifetime risk, says Emily Kuchinsky, MS, certified genetic counselor, Medstar Cancer Network, Baltimore. Approximately 5% to 10% of breast cancers are inherited.

    The most common gene mutations related to breast cancer are found in BRCA1 and BRCA2 genes. Carrier women are advised to undergo breast MRIs starting at age 25 and mammograms at age 30. These women could also consider breast removal, which reduces breast cancer risk by more than 90%, according to National Comprehensive Cancer Network’s (NCCN) guidelines.

    Women already diagnosed with breast cancer in one breast may consider removing both breasts because BRCA carriers have up to a 50% chance of developing cancer in their second breast in their lifetime, Kuchinsky says.

    The public’s demand for genetic testing for breast and ovarian cancer jumped 64% after actress Angelina Jolie openly announced that she carries a BRCA1 mutation, according to Harvard researchers. But because less than 1% of Americans carry a BRCA1/2 mutation, patients should meet with a genetic counselor to determine if they are good testing candidates before undergoing testing, Kuchinsky notes.

    In 2013, the U.S. Supreme Court ruled that genetic testing laboratories could not patent BRCA1/2 genes. This ruling allowed any laboratory to test for BRCA1/2 and has driven down the overall cost of genetic testing for cancer risk genes, Kuchinsky says.

    “By assessing cancer risk accurately, high-risk individuals are identified and can be offered increased screening and preventative options,” Kuchinsky says. “This reduces overall healthcare costs by lowering cancer incidence or allowing cancer to be detected in early stages which requires less treatment.”

    Next: Prostate cancer



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