Predictive and diagnostic genetic testing in psychiatry

Philip B. Mitchell*, Bettina Meiser, Alex Wilde, Janice Fullerton, Jennifer Donald, Kay Wilhelm, Peter R. Schofield

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

    15 Citations (Scopus)


    The recent advent of commercially available genetic tests for the diagnosis of several mental illnesses has led to intense controversy amongst the psychiatric research community. In this article the authors review these developments, and contrast these with the growing evidence from genomewide association studies that highly heritable psychiatric conditions such as schizophrenia are due to the contributions and interaction of multiple allelic variants, each of small effect size. There is also evidence for the contribution of some highly penetrant rare de novo copy number variants, though the lack of disease specificity for these is of concern. This article outlines the prerequisites for predictive and diagnostic genetic tests, such as clinical validity and utility, and reviews the opportunity that genetic tests for mental illnesses present. As the scientific discourse on genetic tests for complex disorders is not limited to psychiatry, the authors outline current thoughts on the significance of genome-wide association studies across health, and the phenomenon of direct-to-consumer tests in medicine. The attitudes and understanding of patients, families, and clinicians about the future (currently hypothetical) scenario of psychiatric genetic tests are discussed, as is the potential for such testing to increase, rather than diminish stigma. Finally, recommendations on the future development and availability of genetic tests in psychiatry are provided.

    Original languageEnglish
    Pages (from-to)829-846
    Number of pages18
    JournalClinics in Laboratory Medicine
    Issue number4
    Publication statusPublished - Dec 2010


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