Geneticist Sequences Unborn Son’s Entire Genome, Just for Fun

A recent book, written by Paul Raeburn, explores the connection between a father and his children. Raeburn’s book highlights several scientific studies that indicate the more physically and emotionally engaged a father is to his child, during pregnancy and beyond, the healthier the child will be. New father Razib Khan has taken the father-child connection to a whole new level.

Khan is on the verge of earning a PhD in feline population genetics from the University of California, Davis. His interest in genetics seems to make it only natural he would be interested in the genetic information of the baby his wife was carrying. Almost from the moment he knew he was going to be a father, Khan wanted to sequence the baby’s DNA.

DNAFetal DNA testing is routinely done when family history suggests cause for alarm but the Khans had no cause for alarm. Khan just wanted to know more about his unborn son’s genetic makeup. His interest was just for fun.

He needed a sample of his son’s fetal tissue so his wife underwent chorionic villus sampling (CVS), in which a biopsied sample of the fetus side of the placenta is extracted. Her doctor sent it to a lab that tests for chromosomal abnormalities. There were none.

Now Khan wanted to know even more, just for fun, but there were roadblocks. He wanted his son’s genetic sample back but the lab wouldn’t send it; he was neither the patient nor the physician requesting the test. His wife and her doctor had to complete the paperwork requesting return of the sample. But there was more.

Laboratories that sequence fetal genetic information only do so for part of the DNA composition, not the entire genome. They look for specific issues only when a problem is suspected. They don’t do this stuff just for fun. They don’t do this stuff for fathers, either. They do testing when a doctor orders it. They send results to doctors, not fathers.

Khan, however, is a scholar of genetics and knows other geneticists, too. One day, when there was an open slot in a genetic sequencing machine being used to study the DNA of various other animals and plants, Khan’s son’s genetic material finally got tested, too. All of it. The entire genome. Just for fun.

The genetic data consumed 43 gigabytes (GBs) of disk space and Khan needed it analyzed. One GB is more than a billion bytes. One hour’s worth of SDTV video is only about 1 GB. So is about seven minutes of HDTV. Roughly 1 GB of disk space is used to record about 114 minutes of CD-quality audio.

Khan submitted the raw genetic data to a company that crunches this kind of digital data and generates reports of any genetic variants and their medical implications. The resulting report listed 7,000 variants. Khan explored them all in the months before his son was born in early June.

What did this avidly engaged father discover about his as-yet-unborn son? No real surprises. Khan describes his son’s genome as “mostly pretty boring. So that is good.”

Source: Regalado, Antonio. “For One Baby, Life Begins with Genome Revealed.” MIT Technology Review / Biomedicine News. MIT Technology Review. Jun 13, 2014. Web. Jun 25, 2014.