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We've been programed to believe that genetic testing is crucial for treatment decisions. However, some doctors think their colleagues just don't know what to do with this additional information. "Do we treat or don't we treat it?" That's the dilemma. Learn why...


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3/16/2016
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Countless doctors suggest that women go through genetic testing to find out whether they have a predisposition for certain cancers via genes like the BRCA gene.

What happens after the tests? 

The New York Times reports on genetic testing.

What is life like after the test?

Do doctors put people on a prevention plan if found positive for certain disease causing genes?

The New York Times is shedding light on the idea that after physicians have patients take the genetic tests, they do not know what to do with the information they find. The Times gives the example of a 44 year old woman and what she faced after she walked into a radiation oncologist’s office last June expecting to discuss the radiation therapy she was about to begin after getting a lumpectomy for breast cancer. But she was shocked when she was given frightening news instead.

Her physician, Dr. Zagar, looked down at a sheet of test results and said a genetic test showed she had inherited an alteration in a gene needed to repair DNA. Radiation breaks DNA, ‘so the treatment might actually spur the growth of her cancer'. Her doctor urged her not to take the risk and to undergo a double mastectomy instead of radiation. 

The patient decided she needed a second opinion. Her second opinion doctor told her the opposite of what her first doctor said. According to doctor #2, ‘the mutation she had was not known to be harmful, so he urged her to go ahead with the radiation’. Then the patient with the breast cancer arranged for a group of doctors to meet but they could not reach a consensus. The physicians eventually left the decision up to the patient.

The Times is saying that this breast cancer patients’ experience is the perfect example of how using genetics in health care has become so common and so confusing, especially in breast cancer care.

Experts from the medical field have been tantalized for a long time ‘by a future in which powerful methods of genetic testing would allow treatments to be tailored to a patient’s genetic makeup’. With today’s advancements in breast cancer treatment, testing of tumors and healthy cells to look for mutations has become the normal standard of care.

Eric P. Winer, the director of the breast oncology program at Harvard’s Dana-Farber Cancer Institute, commented on today’s methods. He said, “Our ability to sequence genes has gotten ahead of our ability to know what it means.”

Why is this an issue?

The Times reports that these ambiguities and disappointments come out in two ways- there is genetic testing of patients to see if they inherited mutations that predisposed them to cancer, and there is genetic testing of cells from the cancer to search for mutations that steer the tumor’s growth; however if found often cannot be pinpointed by any drug on the market.

Experts are saying that eventually the medical community will better be able to understand genetic tests; but for now patients are stuck with frightening information that is not being properly explained to them.

Dr. Evans, the geneticist who counseled this particular patient, commented on the ambiguity. He said, “You have inherently nuanced and confusing tests and widespread ordering and interpretation by doctors who aren’t really equipped to do so. The situation is ripe for over-interpretation and misinterpretation.”

Despite the ambiguity oncologists are still defending the tests, saying that they account for over 100 genetic errors and that it is extremely helpful to know if a patient has a certain genetic mutation that will put them at a higher risk for cancer. Experts are saying that the tests are more harmful than helpful but that patients should be better prepared for ambiguities.

Read the source article here.



Category: Misdiagnosis and Failure to Diagnose


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