After a 13-year-old boy’s heart failed suddenly,…more than 20 of [the boy’s] relatives underwent genetic testing for heart conditions that 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 in the brother’s chest to prevent any potentially fatal heart rhythms, or arrhythmias.
[But] after evaluating the family members, [Dr. Michael Ackerman, a genetic cardiologist at the Mayo Clinic] soon concluded that they did not have long QT syndrome after all.
A paper about the boy’s case … was published in the journal Mayo Clinic Proceedings.
[This is] a cautionary and constructive story about the risks associated with genetic testing, said Dr. Arthur Caplan, a professor … of bioethics at New York University Langone Medical Center.
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 in the New England Journal of Medicine in August found this to be the case in genetic testing for the heart disease hypertrophic cardiomyopathy.
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