How personal genomics solved a family's tragic health mystery

Laura and Rob Sheppard lost three children the same way — all were born with brains that stopped developing a little less than halfway through pregnancy. The deaths might have remained a mystery, but for the power of personal genomics and connections the Sheppards were able to make between scientists in different parts of the country who were studying disorders nobody realized were really the same thing.

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  1. Similar story here : Hunting my son's killer

    .... We live in interesting times.


    Does knowing make it easier for these parents? I guess our human tendancy is to blame ourselves for something we imagine we might have done when we don't know.

    The costs of these genome analysis just keep dropping so we are rapidly getting to a point where we can help couples make informed choices about risks even before they have kids. Amazing work.

    I wonder how good the tools are getting at searching out the mutated chromosomes. Perhaps when the accuracy rates of the exome sequencing drops (and/or full genomic sequencing eventually) and the costs drop to zero (its on the way!) will we really start to see revolutions in medicine.

  2. BTW, they concluded that the problem is an autosomal recessive lethal mutation and both parents are carriers. They said it was a 1 in 64 chance of three children in a row getting it (which implies the twins were fraternal), which would be 0.25*0.25*0.25=0.0156. Although that seems like a bit a stretch, it's also the odds of flipping a coin and having it come up heads six times in a row

  3. That simply isn't true.

    The HGP was certainly overhyped in its day, but I don't think any serious medical or scientific expert honestly believed that a single, crude composite genome sequence would answer most (or even many) of life's mysteries. What it has undeniably done is offer a valuable framework - a lay of the land against which other genome sequences can be organized and understood and compared. Every new set of genome sequence data is composed of zillions of short 100 to 300 nucleotide 'excerpts' that are meaningless unless scientists have a clear sense of their proper coordinates in the genome. HGP and HapMap also gave starting points for understanding sites and combinations of common variation, but by definition rare diseases are RARE, and will therefore need a family-based trio sequence analysis.

    TL;DR version: Without the expensive, first-of-its-kind work done in the HGP (and the parallel efforts from Venter et al.), there would be no personal genomics - just like there had to be a Sputnik before there could be an International Space Station or GPS satellites.

  4. Do you have a particular quote you'd like to cite? Even the experts can be loudly wrong about their own area of expertise, like that famous chestnut about Thomas Watson thought the world only needs five personal computers at most.

    And people aren't getting their research programs slashed so that they can buy a new machine from Illumina. They're getting their funding slashed because of an ignorant Congress that doesn't value scientific research and squabbles like children over every single budget negotiation. Again, please provide quotes about this "vision" - smacks of a strawman to me.

    Regardless, my point still stands. Maybe you don't like the hype, but that doesn't mean that geneticists and biologists haven't made amazing progress with those very tools.

    EDIT AT 12:12p: I would respond further in this discussion, but because I'm a n00b to the board I'm restricted to three replies per post. But in parting: there's no logical fallacy in my post - if there was no money poured into the HGP and (to a lesser degree) HapMap, then yes, we would absolutely be considerably more ignorant about human biology and genetics, and would lack the skills, knowledge and technology to move medicine forward. Was everything as efficient as I would like it to have been? Hell no. What big program (public/private/academic/nonprofit) is? Was it worth the money? Hell yes.

    Missed your edit about the HapMap commentary, will look into that - but again, these research efforts were all valuable building blocks even if they weren't universal solutions. I'm not here to champion Collins or say he never put his foot in his mouth. I'm making a bigger point about the value of the technology once you get past the hype.

    The fact is, academic scientists who are 'saving the day' (per your post above) from 'dumb pharmas' who wasted their money are among the biggest champions and early adopters of these genomics technologies and the big corporations that are reluctant to move into this area. What do you think these academic scientists are doing, sequencing DNA by hand? Figuring out protein structures with a pencil and paper? I worked in an academic bio lab in the 90s - trust me, I would have killed for a modern genome sequencing platform, and so would every single person in my department.

Continue the discussion bbs.boingboing.net

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