Weekly Meanderings, 21 July 2018

Jesus Creed | 7/21/2018 | Staff
ali11 (Posted by) Level 3
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Hello from Denmark!

More to worry about before one needs to worry about it? Yes.

Year - Katie - Burns - Phone - Call

Last year, Katie Burns got a phone call that shows what can happen in medicine when information runs ahead of knowledge.

Burns learned that a genetic test of her fetus had turned up an abnormality. It appeared in a gene that, when it fails to work properly, causes heart defects, mental disability and other problems. But nobody knew whether the specific abnormality detected by the test would cause trouble.

Burns - Photographer - Charlotte - North - Carolina

“I was pretty distraught,” says Burns, a photographer in Charlotte, North Carolina. “I had a baby who was kicking. I could feel him moving inside of me. But at the same time I had this ache in my chest. What was his life going to be for him?”

It took two months to get more reliable information, and Burns says she wasn’t really sure of the answer until after she gave birth in October to a healthy boy.

Experience - Glimpse - Paradox - Genetics - Scientists

Her experience is a glimpse into a surprising paradox of modern-day genetics: Scientists have made huge leaps in rapidly decoding people’s DNA, but they sometimes don’t know what their findings mean. They can even get fooled.

That can come to a head when medical professionals have people tested for genetic variants that cause or promote a disease, usually because they show symptoms or an illness runs in their family. The testing often focuses on relatively rare disorders, caused by a single gene.

Medicine - Testing - Way - Estimate - DNA

Medicine is getting into genetic testing in a big way. One recent estimate found nearly 75,000 health-related DNA tests being marketed by American labs to health care providers, mostly for single-gene disorders, with the total growing rapidly. And this year, the Pennsylvania-based Geisinger health system began offering free genetic testing to its patients as a standard part of its disease prevention efforts, along with...
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