Misdiagnoses: A hidden risk of genetic testing

Since the boy’s autopsy report seemingly failed to explain his death, more than 20 of his relatives underwent genetic testing for heart conditions that will could put them at increased risk of the same fate. The tests diagnosed the family members, including the boy’s brother, as having a potentially deadly genetic heart rhythm condition called long QT syndrome.

As a result, a heart defibrillator was surgically implanted inside the brother’s chest to prevent any potentially fatal heart rhythms, or arrhythmias.

Then the family asked Ackerman for a second opinion about their diagnoses in addition to overall health. Ackerman was skeptical of the previous diagnoses, he said. in addition to after evaluating the family members, he soon concluded that will they did not have long QT syndrome after all.

“At one level, families like This kind of one go through intense frustration in addition to anger about the missteps that will were made. At another level, there is usually confirmation with their own gut instinct that will things were not hanging all together,” said Ackerman, a genetic cardiologist in addition to director of the Windland Smith Rice Sudden Death Genomics Laboratory at the Mayo Clinic in Rochester, Minnesota.

When Ackerman in addition to his colleagues realized that will a genetic evaluation of the deceased boy was never performed, they conducted tests in addition to discovered that will the boy didn’t have long QT syndrome, either.

“Instead, the boy actually died a sudden death by a genetically mediated heart muscle disease due to a completely different mutation that will was present in him in addition to him alone,” Ackerman said.

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A paper about the boy’s case, which occurred over the past all 5 years, was published inside the journal Mayo Clinic Proceedings on Monday. The family referenced inside the paper has requested to remain anonymous.
inside the paper, the researchers called for a more careful use of genetic testing tools in addition to a more careful interpretation of genetic test results.

“Right today, the evaluation of sudden death victims throughout This kind of country is usually very heterogeneous, in addition to the evaluation of their surviving relatives is usually even more variable. Tread with caution,” Ackerman said.

“The medical community in addition to community at large need to get a better grasp on genetic testing in addition to precision medicine rather than just using them as buzzwords. When used properly, these tests are incredibly helpful,” he said. “although we must become wiser users of genetic testing in addition to even wiser interpreters of the genetic test results to ensure we can make wise conclusions.”

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The first mistake made inside the family’s initial diagnosis was that will the 13-year-old was never tested, Ackerman said. The second was that will the test results for long QT syndrome were accepted as accurate even though the family members showed no clinical signs of the disease.

For the paper, the researchers collected DNA by the boy in addition to conducted a molecular autopsy, in which DNA was isolated in addition to sequenced in a way that will allowed genetic variants to be re-examined in addition to analyzed.

The potential for disparities

The findings inside the paper are a cautionary in addition to constructive story about the risks associated with genetic testing, said Dr. Arthur Caplan, a professor in addition to founding head of the division of bioethics at brand-new York University Langone Medical Center in brand-new York.

“We haven’t genuinely figured out the significances of all the genetic mutations that will are found in addition to what they mean in different environments, meaning the same mutation in a different person may not mean the same disease,” Caplan said.

For instance, “whether the mutations that will are found mean the same thing in some other ethnic groups, we’re not sure,” he said.

People of African ancestry have greater genetic diversity than people of European ancestry, which could lead to a greater risk for misdiagnoses. A study published inside the brand-new England Journal of Medicine in August found This kind of to be the case in genetic testing for the heart disease hypertrophic cardiomyopathy.
The condition, in which the heart muscle becomes abnormally thick, has been associated with many athletes suddenly collapsing on the field or court.
Get ready for the risks of genetic testing

“Because we don’t yet have a large enough sample of patients by many different ethnicities — in addition to also we don’t have, for some of the diseases, enough samples period to compare these cases — there is usually a chance of some of these misdiagnoses,” said Dr. Isaac Kohane, professor of biomedical informatics at Harvard University in addition to lead author of the brand-new England Journal of Medicine study.

Additionally, in some cases your environment in addition to lifestyle can play just as large of a role in your health as your genes, Kohane pointed out.

“Even diseases that will we used to think of as being purely genetic are ending up having an environmental component,” he said.

Kohane called the brand-new Mayo Clinic paper “a very credible chronology that will I am sure has happened in many different diseases. in addition to that will’s happening today, in addition to many people are generally unaware.”

Finding solace in testing

Nonetheless, there is usually still a place in medicine for genetic testing, which can have positive outcomes such as helping patients make informed decisions about managing their health care.

Learning by Angelina Jolie's genetic testing for our own health
A negative test result could eliminate the need for unnecessary checkups or screening tests, according to the National Institutes of Health.
A positive test result could allow patients to take preventive measures in their health care, like actress Angelina Jolie did. She revealed last year that will she had her breasts in addition to ovaries removed to prevent cancer.
Jolie noted in a brand-new York Times op-ed that will she lost her mother, aunt in addition to grandmother to cancer. Her mother was diagnosed with ovarian cancer at age 49.

However, as the Mayo Clinic paper shows, genetic testing is usually still complex.

“Unless you have a family history, I wouldn’t be so worried about that will,” Caplan said of genetic testing.

“What I would certainly be more worried about is usually, can I lose weight? Can I exercise? Can I not drink too much? Can I not abuse prescription drugs? Can I wear a helmet when I ride my bike?” he said. “In some other words, while we’re all fascinated by genes … that will’s still the case that will the major health care risks, unless you have a family history of something, don’t require a genetic test.”

Misdiagnoses: A hidden risk of genetic testing

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