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Egenis · Research

Genetic testing for psychiatric disorders: Exploring their clinical validity, utility and potential impacts.

Chris Elphick

Start date


Affiliated staff

Stephen Hughes and Susan Kelly


Tel: 01392 269142 Fax: 01392 264676Homepages: , , and Email: C.Elphick@exeter.ac.uk Building: Byrne House Room Number: FF10

Funded by

ESRC (Egenis)


2007 saw the release of the worlds first direct-to-consumer genetic test for psychiatric disorders. the company Psynomics market tests for two mutations of a gene associated with bipolar disorder, as well as a predictive test for patient response to serotonin-based drugs for this disorder. Soon to be released tests are for suicide and schizophrenia risk. Issues that are yet to be fully considered and explored range from the psychological impact on the tested individuals and their families, via implications on NHS services and provisions, to classification practice and society's view of the disorders. But the clinical validity and utility of the tests must also be considered.

Criteria guidelines for genetic tests were developed in 2000 by the National Office of Public Health Genomics, CDC, and the Foundation for Blood Research (FBR) to evaluate performance, quality control, and effectiveness of tests, which have been successfully applied to a number of different disorders such as Cystic Fibrosis, Hemochromatosis, Venous Thromboembolism, Breast, Ovarian and Colorectal Cancer. Here we aim to apply these criteria to the Psynomics bipolar disorder gene test, and they will serve as salient ideas when considering psychiatry as a discipline in view of such testing.


To explore the clinical utility and the clinical validity of psychiatric genetic tests, and to assess potential consequences and impacts that this type of technology will have on the practice of psychiatry.


Together with a detailed appraisal of the relevant literature, semi-structured interviews with practicing psychiatric clinicians will be done, in order to get their insights into the stated objectives.

Policy implications

Currently there is very little in the way of this sort of consideration in respect to psychiatric genetic tests. This is partly due to the fact that these tests and their subsequent application are still very new. Given this fact, there is potential for this research to contribute to the holistic clinical relevance considerations concerning this sort of test.