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Baby's genome deciphered prenatally from parents' lab tests
Date:6/8/2012

ly more comprehensive. Although technical and analytical difficulties currently exist, the researchers anticipate removal of these hindrances.

"This work opens up the possibility that we will be able to scan the whole genome of the fetus for more than 3,000 single-gene disorders through a single, non-invasive test," said Shendure. Although each specific disorder is rare, in aggregate single-gene diseases, also called Mendelian disorders because of their mode of inheritance, affect about one percent of newborns. The serious nature of these diseases often calls for specialized medical attention.

Shendure mentioned recent advances in detection of de novo mutations which have underscored the important role they play in disorders with more complex origins. These include, but are not limited to, some cases of autism, epilepsy, schizophrenia, or intellectual impairments. However, using genome sequencing to predict and communicate risk to patients would be hard in a clinical setting, due to limited knowledge about multi-gene diseases and their many contributing factors beyond genetics.

"The capacity of genomics to generate data is outstripping our ability to interpret it in ways that are useful to physicians and patients," said Shendure, who is an M.D. /Ph.D medical scientist. "Although the non-invasive prediction of a fetal genome is now technically feasible, its interpretation even for single-gene Mendelian disorders -- will remain an enormous challenge."


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Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert  

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