Tuesday, June 17, 2014

Geneticist Sequences His Unborn Son’s Genome

Sometimes it really does feel like we're living in the imagination of a 1980's sci-fi writer. But people like Razib Khan can help remind us that it's all real.
Khan is a graduate student and professional blogger on genetics. And he managed to sequence his son's genome in a "do-it-yourself fashion" after having obtained a tissue sample from the placenta of the unborn baby during the second trimester. 
Khan, 37 says, "We did a work-around... There is no map for doing this, and there's no checklist. He is currently finishing a PhD in feline population genetics at the University of California, Davis.
Khan admits he had no real medical reason to learn his son's DNA code. He wanted to "push the envelope" and demonstrate where he thinks technology is headed.
Khan obtained the DNA after his wife had a test called CVS, where a biopsy of tissue was taken from her placenta, which shares the fetus's DNA.
Khan wrote on his blog last May saying, "The future is here, deal with it." Also on the blog are Khan's criticisms of government regulation of DNA testing.
Art Beaudet, chairman of molecular genetics at Baylor College of Medicine, predicts, "In five years we will be offering {genome} sequencing for all routine pregnancies in the first trimester."
Sequencing DNA has become cheap and easy that doctors are likely to incorporate it as a way to gauge a fetus's health. The cost of gathering DNA data only costs a few thousand dollars.
The only problem is the amount of information sequencing delivers. Genome sequencing provides a test for over 3,000 inherited disorders as well as information about genes associated with high risks of developing certain disorders. Many doctors are hesitant to perform predicative genetic tests on children for diseases that occur only in adulthood.
And gathering information on fetuses in utero is even more controversial. The discovery of a bad mutation could result in parents opting for "irrevocable action" like abortion.
Khan's son is the only healthy infant to have had DNA sequenced. In 2012, a baby who suffered from sever genetic problems also had their genome decoded. The child survived just 10 days.
Jay Shendure, an expert in fetal genomics at the University of Washing says of Khan's decision, "My guess is that few people may have done this privately already... But this is the only case where someone is being public about it. I think it's going to become a lot more common."

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