Health Team

Genetic Testing Can Tell More About Risks Than Health-Care System Can Handle

Posted March 18, 2008

— Genetic testing can identify more than a thousand genes that increase your risk for many chronic and often fatal diseases. Many people might go without the benefit of all that research, however, because some doctors and others in the health-care system aren’t prepared to apply it.

Selma Schimmel learned she had breast cancer when she was in her 20s, and she was able to benefit from genetic testing she had after that scare.

“For me, it was a real wake-up call,” she said. The testing revealed that she had the BRCA 1 gene mutation, which also placed her at greater risk for ovarian cancer.

That's what took her mother's life, so Schimmel had her ovaries removed.

“Much to my shock, when I awoke from surgery, I was told I already had ovarian cancer,” she said. Without testing and the surgery it caused her to choose, she might not have found out until much later.

Genetic testing can help identify risk for a wide range of disease in both children and adults. A recent review shows, however, that there are not enough genetic specialists to respond to the current needs of patients.

Some doctors don't know enough about genetic medicine to be able to refer patients for testing or counseling.

“The primary-care work force and other health professionals lack knowledge about basic genetic concepts, and they lack confidence in their ability to provide these services,” Dr. Maren T. Scheuner, a medical geneticist at the RAND Corp., said.

In a study published in the Journal of the American Medical Association, researchers looked at eight years of data about genetic medicine for adults.

They found many questions need to be answered before new genetic discoveries become part of clinical practice.

Among them, Scheuner said, are “who delivers it, how we train them and where it's delivered.”

Without the testing, Schimmel says she wouldn't have been as proactive.

“And I truly believe, as do my doctors, that that surgery saved my life,” she said.

In another note on genetic testing, scientists may have a new way to detect breast cancer earlier. It involves a simple hair test.

Now, scientists can use it to tell if a woman has the disease. They're still figuring out how to use the test as a tool for early risk-assessment.


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  • ginandtik Mar 21, 2008

    OMG! People are going to be in a hospital bed somewhere because they had all of their organs removed waiting on a donation all because someone told them they had a high risk for a disease. People don't smoke for the fear they will get lung cancer. Well guess what, people who have never smoked still get lung cancer. I am happy for the woman who found out early she had ovarian cancer and succeded at beating the horrific disease but I feel like my money should be put toward finding a cure for these diseases instead of creating chaos among the human race and turning them into hypochondriacs.

  • GG Mar 21, 2008

    I am a white-american woman and my husband is white-asian. We have two boys. I was told by a genetic counselor when I was pregnant with my second child that he had Trisomy 18 (which is form of severe mental retardation) and they advised me to consider an abortion because it was highy favorable that he would only live for about 2 days after he was born. Well, that just wasn't an option for us so we ignored their opinion and as stressed-out as I was during that pregnancy I fought for my baby's life(lots of praying, eating healthy, staying active)and when he was born a healthy 7 lbs 6 oz with an apgar score of 10, I knew we had made the right decision. He did however have a language delay and needed physical therapy because he was weak in his upper extremities but he is now 7 years of age and has mastered his language therapy and pt. I'm not knocking genetic testing but I certainly feel like I knew my body better than their text book knowledge of statistics.

  • skintodd Mar 20, 2008

    And someday, probably soon, insurers will be able to charge you additional premium because of a genetic marker.
    You want life coverage? Health coverage? So sorry, costs quadrupled for you because you might someday get cancer.

    Genetic Markers are indicators, but be sure that insurers will treat them as promises.