Genetic testing may not always be as foolproof as people might think, and could lead to misdiagnoses in some circumstances.
When a family member dies of a disease or illness, it can be worrisome for children or other relatives who may wonder if they are at risk of getting the same disease. Genetic testing is seen as a way to determine whether these worries are warranted and to decide on the level of preventative care.
However, genetic testing may not be as foolproof and factual as it seems. On Monday, A paper published Monday by the Mayo Clinic journal Proceedings called for more careful use of genetic testing and better interpretation of results to avoid unnecessary stress and procedures, CNN reported.
The paper referenced a family whose 13-year-old son died of sudden heart failure. Genetic testing seemed to reveal a heart rhythm condition called long QT syndrome, and his brother had a heart defibrillator implanted to prevent a similar outcome. Later, a second opinion countered the first diagnosis, revealing the boy did not have long QT, and neither did his brother or other relatives.
Because of the developing nature of genetic testing and the mutation patterns of some ethnic groups, genetic testing must be used carefully in order to ensure its usefulness. The Wall Street Journal reported previously to this paper that African ethic groups have greater degrees of mutation, which makes some mutations scientists once thought harmful, benign instead.
As a larger number of samples are obtained and analyzed, genetic testing is expected to become more accurate and useful to researchers.
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