Identification of the phenotype in psychiatric genetics.
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.
Tsuang
M T
MT
Department of Psychiatry, Harvard Medical School, Brockton-West Roxbury Veterans Affairs Medical Center, MA 02401.
Faraone
S V
SV
Lyons
M J
MJ
D000368:Aged; D005189:False Positive Reactions; D008040:Genetic Linkage; D006801:Humans; D001523:Mental Disorders / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype