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Updated: May 8, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
A taste of individualized medicine: physicians' reactions to automated genetic interpretations
Hallvard Lærum1, Sara Bremer, Stein Bergan
1Information Technology Unit, Oslo University Hospital, Oslo, Norway.
Abstract:
The potential of pharmacogenomics is well documented, and functionality exploiting this knowledge is about to be introduced into electronic medical records. To explore physicians' reactions to automatic interpretations of genetic tests, we built a prototype with a simple interpretive algorithm. The algorithm was adapted to the needs of physicians handling immunosuppressive treatment during organ transplantation. Nine physicians were observed expressing their thoughts while using the prototype for two patient scenarios. The computer screen and audio were recorded, and the qualitative results triangulated with responses to a survey instrument. The physicians' reactions to the prototype were very positive; they clearly trusted the results and the theory behind them. The explanation of the algorithm was prominently placed in the user interface for transparency, although this design led to considerable confusion. Background information and references should be available, but considerably less prominent than the result and recommendation.
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