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Good Intentions, But…

This post has been updated to clarify that the family visited the Mayo Clinic's Michael Ackerman for a second opinion.

After a thirteen-year-old boy died suddenly, doctors diagnosed some 20 of his relatives with Long QT syndrome and implanted a defibrillator in his brother. But, the Wall Street Journal reports, researchers have since found that the family doesn't have Long QT syndrome. Instead, the Journal says this was an instance in which "[m]isuse of a genetic test as well as an incorrect interpretation of the findings" led to a misdiagnosis.

The Mayo Clinic's Michael Ackerman, who the family sought out for a second opinion, tells the paper that that the search for why the boy died was initiated with "good intentions." An autopsy uncovered possible heart-muscle anomalies, but the cause of death couldn't be determined. A cardiologist ordered genetic testing on the boy's brother and that revealed a mutation in a gene that's been linked to Long QT syndrome. The mutation was then uncovered in other family members, and the brother had a defibrillator implanted.

However, Ackerman notes that none of the family members had abnormal electrocardiograms indicative of the syndrome. In addition, he says the variant in the Long QT syndrome-associated gene that this family hasn't actually been linked to disease.

When the boy who died was eventually tested — blood had been collected at autopsy — he was found to have another mutation linked to sudden death.

Ackerman tells the Journal that the "the entire clinical evaluation was a train wreck, where wrong conclusions led to wrong turns and resulted in wrong therapies."

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Mon, 10/31/2016 - 1:54pm

Submitted by TJOLEARY1_2041807

It seems from the above that the result was analytically correct, but that more consideration of the pedigree was required before deciding that the polymorphism found in the propositus was deleterious. This is one of the reasons that genetic assessments should not be considered "tests" but rather procedures that involve analysis of both the genetic material and the clinical situation for proper clinical interpretation.

Mon, 10/31/2016 - 2:03pm

Submitted by rkline719_2087358

This is an example of using test results without looking at the entire picture. Like any lab result, it must be interpreted and then acted upon within the correct context. Taken in isolation, any lab test can lead an unsuspecting clinician down the wrong road. That's why critical thinking and clinical acumen are so important. A good reminder to all.

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