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State of Ignorance

Ignorance about even well-established genetic tests is still widespread among doctors, a Bloomberg article argues.

Take Lynch syndrome, an inherited cancer disorder known since the mid 1990s to be caused by a set of distinct genetic mutations. Bloomberg's Robert Langreth and John Lauerman write that Lynch testing, from companies such as Myriad and Ambry Genetics, currently "costs as little as $300. Still, only about 50,000 people have been diagnosed with the disease of 800,000 afflicted with it."

"As scientists predict DNA testing will transform medicine, doctors and hospitals are ignoring existing tests that could help prevent thousands of cancer deaths, not just of their own patients, but in generations to come," they say.

An early Lynch diagnosis allows patients and their doctors to start close monitoring to prevent future cancers.

Langreth and Lauerman tell the stories of several Lynch patients, highlighting the impact that missing out on a genetic diagnosis of the syndrome has had on themselves and their families.

Of one family, they write, "Carroll survived because she had a less aggressive tumor that was caught and treated promptly. Her cousin, Deborah Raboin, wasn't as lucky … It wasn't until after Raboin died in 2006 and her father developed intestinal cancer that he was finally tested for Lynch syndrome … Carroll's two nieces, the daughters of Carroll's sister who died of ovarian cancer, have been screened and found to have Lynch syndrome genes."

According to Langreth and Lauerman, though awareness of disorders like Lynch and their associated genetic tests is growing, lingering low rates of testing represent a failure; one that "shows how hard it is to bring the benefits of the genome to patients."

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