New testing could help spot genetic disorders

Posted: June 7, 2012 at 1:16 am

In a development scientists are calling a "tour de force," researchers have reconstructed the genome of a fetus using DNA samples from the parents.

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Because their technique did not require an invasive test to take samples from the fetus itself, it's an important step toward what could become a low-risk way to identify genetic disorders early in development, experts say.

Currently, "when genetic testing is done, it's done for just a few diseases," said lead author Dr. Jay Shendure, an associate professor of genome sciences at the University of Washington.

A test based on the new technique could detect the roughly 3,000 conditions known as Mendelian disorders, each of which are the result of a single mutated gene, Shendure said. Huntington's disease, hemophilia and sickle-cell anemia fall into this category.

While each of these disorders is relatively rare, together they affect about 1 percent of births, Shendure said.

"This is amazing," said Dr. Ada Hamosh, director of the Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, of the findings. "On the other hand, in no way is this ready for prime time," said Hamosh, who was not involved with the research.

Shendure and colleagues put together the fetal genome using a saliva sample from the father, and a sample of blood plasma from the mother. About 13 percent of the DNA found outside of cells in a pregnant woman's body belongs to her fetus.

They sequenced the regions of DNA they were aiming for with 98.2 percent accuracy.

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New testing could help spot genetic disorders

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