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    Four ways genetic testing is changing cancer care


    Just as cancer takes many forms, so does genetic testing. When a patient seeks genetic testing at UT Southwestern Medical Center in Dallas, Texas, they must first provide a detailed personal and family health history. “When their history includes early onset cancers or a specific constellation of cancers in multiple generations, my genetic counselors and I use the information to decide what genetic test to offer the patient,” says Theodora Ross, MD, PhD, professor of internal medicine.


    Here, providers discuss different forms of genetic testing and how they improve patient care.

    1. Diagnosing cancer earlier.

    If patients receive a genetic test and are diagnosed with a genetic syndrome due to a known mutation, Ross advises them based on current National Comprehensive Cancer Network (NCCN) guidelines and patients’ unique characteristics. “We often suggest more screening for what is typically advised for a patient of that age and gender such as having regular skin exams, mammograms, magnetic resonance imaging, blood counts, ultrasounds, endoscopies, and colonoscopies. Suggestions might also include protective colectomies, mastectomies, or oophorectomies. Guidelines from NCCN and specialty groups are always being reassessed and refined.”

    2. Treating cancer more effectively.

    If cancer patients have inherited genetic changes in breast cancer genes such as breast cancer susceptibility gene BRCA1/2, ATM, or PALB2, physicians consider precision oncology drugs such as PARP inhibitors. “Several other genetic changes in tumors can guide treatment, so evaluating tumors for changes is a standard of care as well,” Ross says. Examples include evaluating lung tumors for EGFR and ALK mutations and melanomas for BRAF mutations.

    3. Assessing cancer risk.


    Dana Zakalik, MD, corporate director, Nancy and James Grosfeld Cancer Genetics Center; professor of medicine and oncology, Oakland University William Beaumont Medical School, Beaumont Health, Royal Oak, Michigan, says the health system orders next generation sequencing (NGS) and multigene panel tests to evaluate patients for hereditary risk due to inherited mutations in cancer risk genes. “By identifying these gene mutation carriers, we can determine who is at increased risk for getting a specific cancer,” she says. “We are then able to offer patients high-risk screening, prevention strategies (e.g., prophylactic surgery, chemoprevention), as well as promising targeted therapies.” 

    NGS is a much more efficient, rapid, and accurate strategy than what was used in the past, providing much more information. “Previously, we had to analyze genes one by one, which was a lot more labor intensive and costly,” Zakalik says. “NGS allows us to be more thorough and comprehensive. It opens up new ways of discovering who has an inherited predisposition to cancer.” 

    4. Identifying when additional testing might not be necessary.

    Joy Larsen Haidle, MS, CGC, genetic counselor and NSGC past president, North Memorial Health Cancer Center, Robbinsdale, Minnesota, says once physicians identify a mutation, relatives can be tested via a site-specific test. Cascade testing—identifying close relatives of an individual with an inherited risk factor to determine whether they are also affected or are carriers of the same condition—extends the value of healthcare dollars to identify additional people at increased cancer risk and offers interventions in hopes of preserving health, she says. “When there is a known mutation in the family and an individual did not inherit it, heightened surveillance may no longer be necessary.”  

    Next: New high-value rule



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