Sequencing baby Khan

1 minute read

MIT Technology Review has an article this week about Razib Khan’s efforts to sequence his baby son in utero: “For One Baby, Life Begins with Genome Revealed”.

Ultrasound of a fetus in utero, from Wellcome Images
"Normal fetal development, 18 weeks", Wellcome Images, CC-BY 4.0

From the article:

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 son’s 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 there’s no checklist.”

The article has an excellent description of what it took to get the original placental tissue sample back from a genetic testing company, and how the sequencing was ultimately done. It’s not difficult nowadays to carry out this kind of sequencing; the hardest part of this process was getting the tissue.

This article would be excellent reading for a course in anthropological genetics. There is a short sidebar note that captures the article’s tone:

Why it matters
Medical ethics is colliding with parents’ desire for DNA data during pregnancy.

What a comment! In my opinion, “ethics” can’t be very ethical if it conflicts with parents’ desire for information about their children.

A prenatal genome can be a valuable piece of information for a very limited range of possible outcomes. Chromosomal abnormalities and certain inherited Mendelian genetic disorders can be accurately diagnosed, and some traits can be predicted. Widespread screening for these conditions would be a valuable outcome for many parents.

So why should anyone be against providing this information to parents? In reality “medical ethics” isn’t an issue here. It is the widespread belief among certain hand-wringing professionals that parents cannot make responsible choices based on limited information. “Do no harm” gets transmuted into “Do nothing, lest there be some remotely imaginable harm”.