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Genetic Testing Fumbles, Revealing ‘Dark Side’ of Precision Medicine

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Genetic Testing Fumbles, Revealing ‘Dark Side’ of Precision Medicine

STAT,

5 mins. de lectura
5 ideas fundamentales
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¿De qué se trata?

Doctors get precision medicine wrong when genetic databases flag harmless mutations as dangerous.

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Editorial Rating

7

Recommendation

Statnews.com senior writer Sharon Begley provides an accessible, human story of what happens when precision medicine goes wrong. She busts the myth that genetic code has clearly defined features that are either disease-causing or safe and normal. Researchers interpreting the data often use outdated databases, and false diagnoses abound. Begley emphasizes that doctors and their patients shouldn’t defer to genetic test results. If the symptoms don’t support the diagnosis, they should seek a second opinion. getAbstract recommends Begley’s report to anyone curious about genetic testing.

Summary

Precision medicine, or medical treatment tailored to the patient’s genetic code, is gaining popularity. DNA sequencing has come a long way. Geneticists can now compare a genetic profile with a “reference human genome” – a model of healthy DNA – to find variations. They then use databases and algorithms to interpret which ones are harmful.

Unfortunately, the databases frequently give conflicting results. Many are old and flag a mutation as dangerous long after experts have found it to be benign. Because historically most of the data have...

About the Author

Sharon Begley is an author and senior science writer for Statnews.com. She has also worked as a science and health correspondent at Reuters and as a science columnist and editor at The Wall Street Journal and Newsweek.  

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