If you want to destroy my sweater

Like most direct-to-consumer genetic testing, getting an MFA degree in writing probably lacks clinical utility. But jeez louise it’s fun. To hang out and read and write for an extended period of time was and is my idea of a good time. Personal utility, babe.

But attending writing school comes at a price: it changes the way one reads. It causes one’s books (and Kindles?) to get filled with passionately scribbled marginalia that, in a very short time, will mean nothing to the person who wrote them. It becomes more difficult to lose oneself in a story without trying to peek behind the curtain and see how the sausage gets made. And it sharpens what Hemingway called one’s “built-in bullshit detector.”

For better or worse, this mechanism is not triggered by bad fiction alone. It can be set off by horrible grammar, syntax, diction and/or usage and abusage of all kinds and in any kind of writing. To paraphrase the late John Gardner, good writing is a vivid, continuous dream. Anything that interrupts that dream is going to totally harsh one’s mellow.

Sometimes the triggering event is simply a horrible idea planted in a bed of otherwise sweet-smelling intellectual seedlings.

For example, this week I asked my students to read a paper that came out last year titled Novel Genomic Techniques Open New Avenues in the Analysis of Monogenic Disorders. It is essentially a celebration of next-generation DNA sequencing and all of the amazing things it can tell us about single-gene disorders. It explains what we can learn from studying these disorders, how the technology has changed since the positional cloning days of yore,  and how to filter through the zillions of variants one inevitably finds when sequencing a human genome. It is clear and well-written. Indeed, I was feeling pretty pleased with myself for having assigned it. And then, right at the very end, came the turd in the punch bowl:

Genetic risk factor determination for complex disorders, for example, APOE genotype, the most important risk factor for complex [Alzheimer’s disease], is a byproduct of exome/genome sequencing. A solution to this problem might be to discard all sequence data outside the genes required for diagnosis before the analysis of the [sequencing] data. (emphasis added)

Pay attention, kids: If it poses an ethical problem, then the obvious thing to do is to just throw it away! Delete it! Burn it! Shred it! Avert your eyes! The patient/research participant/taxpayer won’t mind! Trust me!

Dream interrupted. Mellow harshed.

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8 Responses to If you want to destroy my sweater

  1. Terrifyingly, I spoke last week to a guy from a UK-based clinical diagnostics lab that plans to do precisely this for all of their exome-sequenced patients: look at the genes they care about, throw everything else away. In fact, to make sure they can never be accused of having access to incidental findings, they’d like to find a way of throwing away these “off target” sequencing reads the moment they come off the machine.

    It’s to resolve the ethical problems raised by incidental findings, he told me. Needless to say, I suggested that the fact that this is being proposed as an “ethical” solution is a travesty.

  2. Oh, and I’m in no position to make demands after over three weeks of blog silence myself, but you should definitely blog more. :-)

  3. Neil says:

    One approach to the “incidentalome” was referenced in the UK’s Human Genetic Commission’s report on pre-pregnancy genetic testing, released today and reported on the BBC – http://www.bbc.co.uk/news/health-12983866

    The summary – http://www.hgc.gov.uk/Client/document.asp?DocId=315&CAtegoryId=10 – mentions, amongst other good stuff:

    carrier status information obtained incidentally through tests or investigations carried out for other purposes e.g. newborn screening, should be provided to GPs and stored in a secure and accessible format so that the children have this information when they reach adulthood.

    Also, and perhaps of wider interest:

    children and young people should learn about antenatal and preconception screening in the final years of compulsory schooling

  4. Rosalynn Gill says:

    We spent a lot of time thinking about this in the olden days (2002) when SNP multiplexing became more cost effective. Is this situation really that different from current clinical practice? For example, with a blood panel at your annual (or sort of annual) physical, only the relevant information ordered by the doc gets reported. What happens to the rest of the data? The blood panel assays are run simultaneously, but not all data is reported out. That data is thrown away or never reported out. Genetic exceptionalism?

  5. Shecky R. says:

    Ethical rules are tough, because the tendency for companies to ignore them is so great, given other priorities. HIPAA laws, for example, are so strict and punitive, not because the consequences of breaking them are automatically deleterious for the patient, but because the ease of and propensity for ignoring them is so great on the part of practitioners (indeed, technically, they’re still violated a lot, despite rules). I don’t know that there is any good answer… we live in a society where the only way to correct something, unfortunately, is usually to over-correct!

  6. mangrist says:

    I find it more sad than terrifying. We spend so much time wringing our hands about health care costs and yet when a huge windfall of potentially useful medical information comes along our instinct is to flush it down the toilet. Is this how we honor the spirit of Nuremberg, the Helsinki Declaration and the Belmont Report?

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