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Why we aren’t ready for routine genetic sequencing of newborns: It can ‘raise unsettling questions’

| | July 15, 2019

Scientists have found that, so far, a complete genetic readout would be a poor substitute for the traditional blood test that babies get at birth to screen for diseases.

Even when genetic testing provides useful information, it also can raise unsettling questions.

One of the big concerns about running gene scans on newborns is how families will receive and make sense of the results.

In many cases of genetic testing, it’s not that straightforward to identify the underlying genetic flaw. A disorder can be caused by any of a number of genetic variants, and those variants can be on different genes. Many have yet to be cataloged.

Scientists discovered an even deeper problem. Just having one of these problematic variants isn’t necessarily enough to determine whether a child actually develops a metabolic disease.

It turns out that other variants can sometimes come into play in ways that scientists have yet to understand. “It really opens a new can of worms,” said Dr. Jennifer Puck at the University of California, San Francisco.

So DNA tests aren’t going to replace the standard testing without a lot more research.

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Read full, original post: The Promises And Pitfalls Of Gene Sequencing For Newborns

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