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Predictive and Diagnostic Genetic Testing in Psychiatry

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      References

        • Couzin J.
        Science and commerce. Gene tests for psychiatric risk polarize researchers.
        Science. 2008; 319: 274-277
        • Barrett T.B.
        • Hauger R.L.
        • Kennedy J.L.
        • et al.
        Evidence that a single nucleotide polymorphism in the promoter of the G protein receptor kinase 3 gene is associated with bipolar disorder.
        Mol Psychiatry. 2003; 8: 546-557
        • Barrett T.B.
        • Emberto J.E.
        • Nievergelt C.M.
        • et al.
        Further evidence for association of GRK3 to bipolar disorder suggests a second disease mutation.
        Psychiatr Genet. 2007; 17: 315-322
        • Zhou X.
        • Barrett T.B.
        • Kelsoe J.R.
        Promoter variant in the GRK3 gene associated with bipolar disorder alters gene expression.
        Biol Psychiatry. 2008; 64: 104-110
        • Prata D.P.
        • Breen G.
        • Munro J.
        • et al.
        Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes.
        Psychiatr Genet. 2006; 16: 229-230
        • Braff D.L.
        • Freedman R.
        Clinically responsible genetic testing in neuropsychiatric patients: a bridge too far and too soon.
        Am J Psychiatry. 2008; 165: 952-955
        • Burmeister M.
        • McInnis M.G.
        • Zöllner S.
        Psychiatric genetics: progress amid controversy.
        Nat Rev Genet. 2008; 9: 527-540
        • Psychiatric G.W.A.S.
        • Consortium Coordinating Committee
        Genomewide association studies: history, rationale, and prospects for psychiatric disorders.
        Am J Psychiatry. 2009; 166: 540-556
        • International Schizophrenia Consortium
        Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
        Nature. 2009; 460: 748-752
        • Shi J.
        • Levinson D.F.
        • Duan J.
        • et al.
        Common variants on chromosome 6p22.1 are associated with schizophrenia.
        Nature. 2009; 460: 753-757
        • Stefansson H.
        • Rujescu D.
        • Cichon S.
        • et al.
        Large recurrent microdeletions associated with schizophrenia.
        Nature. 2008; 455: 232-236
        • International Schizophrenia Consortium
        Rare chromosomal deletions and duplications increase risk of schizophrenia.
        Nature. 2008; 455: 237-241
        • Bassett A.S.
        • Marshall C.R.
        • Lionel A.C.
        • et al.
        Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
        Hum Mol Genet. 2008; 17: 4045-4053
        • Sebat J.
        • Lakshmi B.
        • Malhotra D.
        • et al.
        Strong association of de novo copy number mutations with autism.
        Science. 2007; 316: 445-449
        • Ferreira M.A.
        • O'Donovan M.C.
        • Meng Y.A.
        • et al.
        Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
        Nat Genet. 2008; 40: 1056-1058
        • Holmans P.
        • Green E.K.
        • Pahwa J.S.
        • et al.
        Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder.
        Am J Hum Genet. 2009; 85: 13-24
        • Burke W.
        • Zimmern R.
        Moving beyond ACCE: an expanded framework for genetic test evaluation.
        PHG Foundation, Cambridge (UK)2007
        • Melzer D.
        • Hogarth S.
        • Liddell K.
        • et al.
        Genetic tests for common diseases: new insights, old concerns.
        BMJ. 2008; 336: 590-593
        • Wellcome Trust Case Control Consortium
        Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
        Nature. 2007; 447: 661-678
        • Scott L.J.
        • Muglia P.
        • Kong X.Q.
        • et al.
        Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
        Proc Natl Acad Sci U S A. 2009; 106: 7501-7506
        • Stefansson H.
        • Ophoff R.A.
        • Steinberg S.
        • et al.
        Common variants conferring risk of schizophrenia.
        Nature. 2009; 460: 744-747
        • Hardy J.
        • Singleton A.
        Genomewide association studies and human disease.
        N Engl J Med. 2009; 360: 1759-1768
        • Goldstein D.B.
        Common genetic variation and human traits.
        N Engl J Med. 2009; 360: 1696-1698
        • Hirschhorn J.N.
        Genomewide association studies—illuminating biologic pathways.
        N Engl J Med. 2009; 360: 1699-1701
        • Kraft P.
        • Hunter D.J.
        Genetic risk prediction—are we there yet?.
        N Engl J Med. 2009; 360: 1701-1703
        • Weedon M.N.
        • Lango H.
        • Lindgren C.M.
        • et al.
        Genome-wide association analysis identifies 20 loci that influence adult height.
        Nat Genet. 2008; 40: 575-583
        • Janssens A.C.
        • van Duijn C.M.
        Genome-based prediction of common diseases: advances and prospects.
        Hum Mol Genet. 2008; 17: R166-R173
        • Wray N.R.
        • Goddard M.E.
        • Visscher P.M.
        Prediction of individual genetic risk to disease from genome-wide association studies.
        Genome Res. 2007; 17: 1520-1528
        • Hudson K.
        • Javitt G.
        • Burke W.
        • et al.
        ASHG Statement on direct-to-consumer genetic testing in the United States.
        Obstet Gynecol. 2007; 110: 1392-1395
        • Hogarth S.
        • Javitt G.
        • Melzer D.
        The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues.
        Annu Rev Genomics Hum Genet. 2008; 9: 161-182
        • Shetty P.
        Home DNA test kits cause controversy.
        Lancet. 2008; 371: 1739-1740
        • Schmidt C.
        Regulators weigh risks of consumer genetic tests.
        Nat Biotechnol. 2008; 26: 145-146
        • Hudson K.J.G.
        • Burke W.
        • Byres P.
        • et al.
        ASHG Statement on direct-to-consumer genetic testing in the United States.
        Am J Hum Genet. 2007; 81: 635-637
        • Human Genetics Commission
        More genes direct: a report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public. Human Genetics Commission, London (UK)2007
        • Abbing H.D.
        Genetic testing for health care purposes, a Council of Europe Protocol.
        Eur J Health Law. 2008; 15: 353-359
        • Patch C.
        • Sequeros J.
        • Cornel M.C.
        Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing.
        Eur J Hum Genet. 2009; 17: 857-859
        • Janssens A.C.
        • Gwinn M.
        • Bradley L.A.
        • et al.
        A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions.
        Am J Hum Genet. 2008; 82: 593-599
        • Zonno K.D.
        • Terry S.F.
        Registry of genetic tests: a critical stepping stone to improving the genetic testing system.
        Genet Test Mol Biomarkers. 2009; 13: 153-154
        • Hudson K.L.
        Prohibiting genetic discrimination.
        N Engl J Med. 2007; 356: 2021-2023
        • Hudson K.L.
        • Holohan M.K.
        • Collins F.S.
        Keeping pace with the times—the Genetic Information Nondiscrimination Act of 2008.
        N Engl J Med. 2008; 358: 2661-2663
        • Arribas-Ayllon M.
        • Sarangi S.
        • Clarke A.
        The micropolitics of responsibility vis-a-vis autonomy: parental accounts of childhood genetic testing and (non)disclosure.
        Sociol Health Illn. 2008; 30: 255-271
        • Borry P.
        • Evers-Kiebooms G.
        • Cornel M.C.
        • et al.
        Genetic testing in asymptomatic minors.
        Eur J Hum Genet. 2009; 17: 711-719
        • Hathaway F.
        • Burns E.
        • Ostrer H.
        Consumers' desire towards current and prospective reproductive genetic testing.
        J Genet Couns. 2009; 18: 137-146
        • Rose S.
        The rise of neurogenetic determinism.
        Nature. 1995; 373: 380-382
        • Rose S.P.
        Neurogenetic determinism and the new euphenics.
        BMJ. 1998; 317: 1707-1708
        • Craddock N.
        • Jones I.R.
        • Kent L.
        Neurogenetic determinism and the new euphenics. Psychosocial and ethical issues in psychiatric genetics require constructive debate.
        BMJ. 1999; 318 ([author reply: 1489]): 1488
        • Huntingtons Disease Collaborative Research Group
        A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
        Cell. 1993; 72: 971-983
        • Meiser B.
        • Dunn S.
        Psychological impact of genetic testing for Huntington's disease: an update of the literature.
        J Neurol Neurosurg Psychiatr. 2000; 69: 574-578
        • Klitzman R.
        • Thorne D.
        • Williamson J.
        • et al.
        The roles of family members, health care workers, and others in decision-making processes about genetic testing among individuals at risk for Huntington disease.
        Genet Med. 2007; 9: 358-371
        • Klitzman R.
        • Thorne D.
        • Williamson J.
        • et al.
        Disclosures of Huntington disease risk within families: patterns of decision-making and implications.
        Am J Med Genet A. 2007; 143A: 1835-1849
        • Moeschler J.B.
        Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.
        Curr Opin Neurol. 2008; 21: 117-122
        • Moeschler J.B.
        Genetic evaluation of intellectual disabilities.
        Semin Pediatr Neurol. 2008; 15: 2-9
        • Lintas C.
        • Persico A.M.
        Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
        J Med Genet. 2009; 46: 1-8
        • Munger K.M.
        • Gill C.J.
        • Ormond K.E.
        • et al.
        The next exclusion debate: assessing technology, ethics, and intellectual disability after the Human Genome Project.
        Ment Retard Dev Disabil Res Rev. 2007; 13: 121-128
        • Farrer L.A.
        • Cupples L.A.
        • Haines J.L.
        • et al.
        Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.
        JAMA. 1997; 278: 1349-1356
        • Roberts J.S.
        • LaRusse S.A.
        • Katzen H.
        • et al.
        Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease.
        Alzheimer Dis Assoc Disord. 2003; 17: 86-93
        • Roberts J.S.
        • Barber M.
        • Brown T.M.
        • et al.
        Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial.
        Genet Med. 2004; 6: 197-203
        • Green R.C.
        • Roberts J.S.
        • Cupples L.A.
        • et al.
        Disclosure of APOE genotype for risk of Alzheimer's disease.
        N Engl J Med. 2009; 361: 245-254
        • Wilhelm K.
        • Meiser B.
        • Mitchell P.B.
        • et al.
        Issues concerning feedback about genetic testing and risk of depression.
        Br J Psychiatry. 2009; 194: 404-410
        • Trippitelli C.L.
        • Jamison K.R.
        • Folstein M.F.
        • et al.
        Pilot study on patients' and spouses' attitudes toward potential genetic testing for bipolar disorder.
        Am J Psychiatry. 1998; 155: 899-904
        • Meiser B.
        • Mitchell P.B.
        • McGirr H.
        • et al.
        Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study.
        Soc Sci Med. 2005; 60: 109-118
        • Meiser B.
        • Mitchell P.B.
        • Kasparian N.A.
        • et al.
        Attitudes towards childbearing, causal attributions for bipolar disorder and psychological distress: a study of families with multiple cases of bipolar disorder.
        Psychol Med. 2007; 37: 1601-1611
        • Meiser B.
        • Kasparian N.A.
        • Mitchell P.B.
        • et al.
        Attitudes to genetic testing in families with multiple cases of bipolar disorder.
        Genet Test. 2008; 12: 233-243
        • DeLisi L.E.
        • Bertisch H.
        A preliminary comparison of the hopes of researchers, clinicians, and families for the future ethical use of genetic findings on schizophrenia.
        Am J Med Genet B Neuropsychiatr Genet. 2006; 141B: 110-115
        • Austin J.C.
        • Smith G.N.
        • Honer W.G.
        The genomic era and perceptions of psychotic disorders: genetic risk estimation, associations with reproductive decisions and views about predictive testing.
        Am J Med Genet B Neuropsychiatr Genet. 2006; 141B: 926-928
        • Laegsgaard M.M.
        • Kristensen A.S.
        • Mors O.
        Potential consumers' attitudes toward psychiatric genetic research and testing and factors influencing their intentions to test.
        Genet Test Mol Biomarkers. 2009; 13: 57-65
        • Wilhelm K.
        • Mitchell P.B.
        • Niven H.
        • et al.
        Life events, first depression onset and the serotonin transporter gene.
        Br J Psychiatry. 2006; 188: 210-215
        • Caspi A.
        • Moffitt T.E.
        Gene-environment interactions in psychiatry: joining forces with neuroscience.
        Nat Rev Neurosci. 2006; 7: 583-590
        • Caspi A.
        • Sugden K.
        • Moffitt T.E.
        • et al.
        Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene.
        Science. 2003; 301: 386-389
        • Munafo M.R.
        • Durrant C.
        • Lewis G.
        • et al.
        Gene X environment interactions at the serotonin transporter locus.
        Biol Psychiatry. 2009; 65: 211-219
        • Risch N.
        • Herrell R.
        • Lehner T.
        • et al.
        Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis.
        JAMA. 2009; 301: 2462-2471
        • Wilde A.
        • Meiser B.
        • Mitchell P.B.
        • et al.
        Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings.
        Eur J Hum Genet. 2010; 18: 47-51
        • Wilde A.
        • Meiser B.
        • Mitchell P.B.
        • et al.
        Public attitudes towards mental health intervention for healthy people on the basis of genetic susceptibility.
        Aust N Z J Psychiatry. 2009; 43: 1070-1076
        • Finn C.T.
        • Wilcox M.A.
        • Korf B.R.
        • et al.
        Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns.
        J Clin Psychiatry. 2005; 66: 821-830
        • Hoop J.G.
        • Roberts L.W.
        • Green Hammond K.A.
        • et al.
        Psychiatrists' attitudes regarding genetic testing and patient safeguards: a preliminary study.
        Genet Test. 2008; 12: 245-252
        • Hoop J.G.
        • Roberts L.W.
        • Green Hammond K.A.
        • et al.
        Psychiatrists' attitudes, knowledge, and experience regarding genetics: a preliminary study.
        Genet Med. 2008; 10: 439-449
        • Phelan J.C.
        Geneticization of deviant behavior and consequences for stigma: the case of mental illness.
        J Health Soc Behav. 2005; 46: 307-322
        • Nelkin D.
        • Lindee M.S.
        “Genes made me do it”: the appeal of biological explanations.
        Politics Life Sciences. 1996; 15: 95-97
        • Phelan J.C.
        Genetic bases of mental illness—a cure for stigma?.
        Trends Neurosci. 2002; 25: 430-431
        • Spriggs M.
        • Olsson C.A.
        • Hall W.
        How will information about the genetic risk of mental disorders impact on stigma?.
        Aust N Z J Psychiatry. 2008; 42: 214-220
        • Hsiung G.Y.
        • Sadovnick A.D.
        • Feldman H.
        Apolipoprotein E epsilon4 genotype as a risk factor for cognitive decline and dementia: data from the Canadian Study of Health and Aging.
        CMAJ. 2004; 171: 863-867
      1. Collier D, Vassos E, Holden S. Advances in the genetics of schizophrenia: will high risk copy number variants be useful in clinical genetics or diagnosis? F1000 Medicine Reports 2009;1:61.

        • Austin J.C.
        • Honer W.G.
        The potential impact of genetic counseling for mental illness.
        Clin Genet. 2005; 67: 134-142