July 13, 2014

100% accurate medical testing

The Wireless has a story about a fatal disease where there’s an essentially 100% accurate test available.

Alice Harbourne has a 50% chance of Huntington’s Disease. If she gets tested, she will have either a 0% or 100% chance, and despite some recent progress on the mechanism of the disease, there is no treatment.

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Thomas Lumley (@tslumley) is Professor of Biostatistics at the University of Auckland. His research interests include semiparametric models, survey sampling, statistical computing, foundations of statistics, and whatever methodological problems his medical collaborators come up with. He also blogs at Biased and Inefficient See all posts by Thomas Lumley »

Comments

  • avatar

    A well-written story. One thing that wasn’t quite correct is that the diagnostic test does also give some information about the likely age of onset and rate of progression. The test is positive if the number of CAG repeats exceed a threshold of 35, but higher numbers are predictive of age of onset:

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048807/
    (freely available paper)

    and more subtly of rate of progression.

    10 years ago