Specialties

  • Genetic Advances

  • Genetic testing for inherited cancer syndromes has advanced rapidly in the last few years.

    Expanded knowledge of genetics has also led to better insurance coverage and additional testing options that allow patients to receive the testing needed to make informed choices about their health. Many former patients that pursued genetic testing previously have elected to undergo new testing that has provided new information. One such patient remarked after a cause of the cancer in her family was finally found, “My family has been looking for this explanation for 20 years.”

    If you were seen for genetic counseling previously and even if you received normal test results, you may benefit from a follow-up appointment. If you declined genetic testing in the past because of cost, there are new options that may allow you to receive testing at no or very little cost. If you already had genetic testing and the results were negative or uncertain, you may qualify for additional genetic testing. Personal and family history updates may also impact genetic testing options as well as cancer risk estimates and screening options. We recommend contacting your genetic counselor every 1-2 years to update your family history and see if any additional genetic testing options are available to you.

    Summary of genetic testing advances in the last few years.

    Multi-gene Panels
    Before 2012, genetic testing done for hereditary cancer syndromes was often completed one gene or one syndrome at a time. Since 2012, technology has improved to be able to test many different genes at once.  We now call these tests “panels” since they analyze a large panel of genes at one time. These panels have made genetic testing cheaper because now one test can be done to test someone for numerous genes of concern at once instead of having to order multiple tests from multiple labs.  Panels also allow us to test individuals for rare hereditary cancer syndromes that we previously would not have been able to receive insurance coverage for.

    BRCA1/2
    BRCA1 and BRCA2 have been the center of conversations surrounding hereditary breast cancer since the mid-1990s.  BRCA1/2 testing that was done before 2012 did not always include comprehensive rearrangement testing (also called “BART”) so it is very possible that individuals who received normal BRCA1/2 test results before 2012 could still have a BRCA1 or BRCA2 mutation that was undetected at the time.

    Other hereditary breast cancer genes
    In addition, many different genes have long been known to interact with BRCA1 and BRCA2. Studies have now shown that individuals with mutations in these other genes also have an increased cancer risk. Testing for these additional genes is now available as part of the genetic testing panels available.

    Hereditary colon cancer/Lynch syndrome
    Hereditary colon cancer has also seen great advances. The most frequently identified hereditary colon cancer syndrome is Lynch syndrome, which leads to an increased risk for colon, uterine, and other cancers. Additional genes that cause Lynch syndrome have been identified and more comprehensive testing of these genes is also now available. New causes of hereditary colon cancer have been identified as well. Individuals who received normal Lynch syndrome testing in the past could still have a mutation that was not detected at the time or have a mutation leading to another hereditary colon cancer syndrome that was not tested for.

    Other hereditary cancers
    For patients with other cancer types, we now have testing options that did not exist previously. For example, there are now tests available that test for 19 genes for hereditary kidney cancer and 13 genes for hereditary pancreatic cancer.

    In summary, genetic testing for inherited cancer syndromes has been significantly updated in recent years and individuals may qualify for additional genetic testing even if they tested negative in the past.


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