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MIT Technology Review on My Son's Whole Genome Sequencing
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Recently MIT Technology Review contacted me to talk about my son’s whole genome sequencing. After some digging it turned out that it is possible that my son could be “the first healthy person ever born with his entire genetic makeup deciphered in advance.” You can read the whole story, For One Baby, Life Begins with Genome Revealed. Though I do agree with Jay Shendure, “My guess is that a few people may have done this privately already.” Hopefully this story will prompt these individuals to come out of the shadows. There’s nothing to hide.

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  1. So does he have anything special/unusual in his genome that surprised you?

  2. “the first healthy person ever born with his entire genetic makeup deciphered in advance.”


    BGI’s Fei Gao said that BGI has been testing a method published earlier this year in PLoS One for detecting copy number variants from single-cell, low-pass, whole-genome sequencing on couples undergoing in vitro fertilization.

    In August, the first IVF baby that was sequenced before implantation was born healthy, he said, and since then more than 20 healthy babies have been born healthy following pre-IVF single-cell sequencing to screen for aneuploidies and large copy number variants.

  3. Read the article: he’s a boring regular kid.

  4. Man, no CNV / microdeletion analysis? I understand that your point was to push the envelope, but shouldn’t it also have a stronger hint of utility?

  5. DM, Signature test already looked at that.

  6. Signature’s closed their business but as far as I can tell their Precision Panel was geared specifically to 15 common chromosomal disorders (such as trisomies 21, 18, Prader-Willi…).
    To say that it covers the CNVs / microrearrangements would be roughly equivalent to claiming that your whole genome sequencing would be besides the point if you had access to one of the current panels of a few dozens mutations responsible for the more common metabolic disorders in the newborn children such as selected aminoacidemias, acidurias, or fatty acid metabolic enzyme issues?

    As I recall, children may have up to dozens of de novo microrearrangements, too small to be visible on the classic panels / moderate density microarrays. but potentially far more relevant than point mutations to the genes where they are found? Few people would sweat a new truncating mutation in the middle of TTN gene in their baby, but a rearrangement taking away a bunch of TTN exons may be a whole lot different story, just to give you a hypothetical example

  7. it wasn’t precision. it was a panel with like 250 disorders. they used microarray + a custom SNP panel (looking at loss of heterozygosity).

  8. fwiw, when i have time i’ll do a thorough run through of his genome. just don’t have that now.

  9. Sequencing his genome is all well and good, but when are you going to have his astrological chart analyzed? 🙂

    Also, congratulations.

  10. I like this answer. More analysis ahead. Consistency with microarrays. Consistency with the predicted genotypes deduced from meiotic patterns in the parents. De novo variation. Alternative annotation methods. But first thing, helping mom & family chores. That sounds about right 🙂

  11. @Chris,

    If that comment was directed to me – as in, “He’s a boring normal kid”, then maybe I didn’t make sense to you, or you’re not that familiar with what I’m talking about, which is Minor Allele Frequencies (MAFs)…

    Almost everyone has some SNP result which is extremely rare. A few hundred of these conditions are known and tested for. What I’m talking about is de novo deletions or insertions.

    My 3rd child took part in a special study offered to older fathers, and we were told to expect a few deleterious results out of 80 conditions and 200-300 known InDels which can be troublesome, and her results were clear for all conditions and InDels. That does not mean she has no MAF’s, only less well characterized ones.

    For instance I have a knockout on a pain receptor, and so my gums/teeth don’t go numb when given a regular dental pain injection, rather I need a specific class of stronger pain reliever to work. This deletion interferes with all the Codeine family of pain relievers.

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