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Genetic testing comes with unforeseen risks of misdiagnoses

| | November 1, 2016

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.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Misdiagnoses: A hidden risk of genetic testing

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
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