How a California father made an end run around medicine to decode his sons DNA.
An infant delivered last week in California appears to be the first healthy person ever born in the U.S. with his entire genetic makeup deciphered in advance.
His father, Razib Khan, is a graduate student and professional blogger on genetics who says he worked out a rough draft of his sons genome early this year in a do-it-yourself fashion after managing to obtain a tissue sample from the placenta of the unborn baby during the second trimester.
We did a work-around, says Khan, 37, who is now finishing a PhD in feline population genetics at the University of California, Davis. There is no map for doing this, and theres no checklist.
The idea of sequencing fetuses is extremely new and sensitive. Khan, who had no real medical reason to learn his sons DNA code, says sequencing his son in utero was more cool than practical. He did it to show where technology is headed and because he likes pushing the envelope.
Khan is already well known in genetics circles as a conservative blogger who publishes provocative views on genetics, race, and reproduction, most recently at the Unz Review, and has also criticized government regulation of DNA testing. Among his most frequent predictions over the last few years: sequencing of fetuses will soon become routine, like it or not. The future is here, deal with it, he wrote on his blog in May.
Sequencing DNA has become so cheap and easy that its routine use in pregnancy, as a way to get a broad view of a fetuss health, is starting to look inevitable. In five years we will be offering [genome] sequencing for all routine pregnancies in the first trimester, predicts Art Beaudet, chairman of molecular genetics at Baylor College of Medicine. He says Baylor is developing plans to begin offering so-called exome sequencing, or decoding of the key parts of the genome, during pregnancy for some couples.
Whats still not settled is the ethics of prenatal sequencingor the question of who gets to control the data. In fact, that debate has barely begun. Its such a new idea that the American College of Medical Genetics and Genomics, which sets guidelines for medical geneticists, still has no position on it, says Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts University.
The problem is too much information. Unlike a targeted testsay, a lab exam for a single conditiongenome sequencing reveals every gene. In effect, it provides a test for over 3,000 inherited disorders as well as information about genes associated with higher risks of developing certain disorders. For example, a mutation in one gene, known as APOE, strongly predicts a persons likelihood of developing Alzheimers disease in old age. Right now, however, many doctors remain opposed to doing predictive genetic tests on children for diseases that occur only in adulthood.
Determined by DNA: Razib Khan holds his infant son, born in early June in California.
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For One Baby, Life Begins with Genome Revealed