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Identification of the phenotype in psychiatric genetics

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Summary

Statistical procedures and molecular genetic techniques have attained a fine degree of resolution. Their ability to find disease genes has revolutionized medicine and raised hopes for breakthroughs in psychiatry. However, such breakthroughs may require an equally discriminating nosology. A psychiatric genetic nosology seeks to classify patients into categories that correspond to distinct genetic entities by addressing the problem of diagnostic accuracy: the degree to which a diagnosis correctly classifies people with and without a putative genetic illness. We review methods that deal with misclassification in genetic studies. These are clinical and epidemiological approaches that deal directly with how to define the observable manifestation of a putative genotype. We discuss two groups of methods: those that use known phenotypes and those that design new phenotypes.

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  1. Department of Psychiatry, Harvard Medical School at Brockton-West Roxbury Veterans Affairs Medical Center, 940 Belmont-Street, 02401, Brockton, MA, USA

    Ming T. Tsuang, Stephen V. Faraone & Michael J. Lyons

  2. Department of Epidemiology, Harvard School of Public Health, Boston, Mass, USA

    Ming T. Tsuang

  3. Pediatric Psychopharmacology Unit, Psychiatry Service, Massachusetts General Hospital, Mass, USA

    Stephen V. Faraone

  4. Department of Psychology, Boston University, Boston, Mass, USA

    Michael J. Lyons

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Tsuang, M.T., Faraone, S.V. & Lyons, M.J. Identification of the phenotype in psychiatric genetics. Eur Arch Psychiatry Clin Nuerosci 243, 131–142 (1993). https://doi.org/10.1007/BF02190719

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