Predictive and Diagnostic Genetic Testing in Psychiatry

Clinics in Laboratory Medicine

Volumn 30, Issue 4, 2010, Pages 829-846

  Mitchell, Philip B ^a,b   Meiser, Bettina ^c   Wilde, Alex ^d   Fullerton, Janice ^e   Donald, Jennifer ^f   Wilhelm, Kay ^a   Schofield, Peter R ^a,e  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^f MACQUARIE UNIVERSITY   (Australia)

Author keywords

Diagnostic; Genetic testing; Mental; Predictive; Psychiatric

Indexed keywords

ATTITUDE TO MENTAL ILLNESS; BIPOLAR DISORDER; COPY NUMBER VARIATION; DEPRESSION; DIAGNOSTIC VALUE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; HIGH RISK POPULATION; HUMAN; MENTAL DISEASE; PENETRANCE; POPULATION GENETICS; PREDICTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STIGMA; VALIDITY;

ATTITUDE TO HEALTH; GENETIC TESTING; HUMANS; MENTAL DISORDERS; MOLECULAR DIAGNOSTIC TECHNIQUES; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS; SOCIAL STIGMA;

EID: 77956525597     PISSN: 02722712     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cll.2010.07.001     Document Type: Review

References (83)

1. Couzin J. Science and commerce. Gene tests for psychiatric risk polarize researchers. Science 2008, 319(5861):274-277.
2. 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(5):546-557.
3. 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(6):315-322.
4. 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(2):104-110.
5. 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(6):229-230.
6. Braff D.L., Freedman R. Clinically responsible genetic testing in neuropsychiatric patients: a bridge too far and too soon. Am J Psychiatry 2008, 165(8):952-955.
7. Burmeister M., McInnis M.G., Zöllner S. Psychiatric genetics: progress amid controversy. Nat Rev Genet 2008, 9:527-540.
8. Psychiatric G.W.A.S., Consortium Coordinating Committee Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry 2009, 166(5):540-556.
9. International Schizophrenia Consortium Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009, 460(7256):748-752.
10. Shi J., Levinson D.F., Duan J., et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009, 460(7256):753-757.
11. Stefansson H., Rujescu D., Cichon S., et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455(7210):232-236.
12. International Schizophrenia Consortium Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455(7210):237-241.
13. 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(24):4045-4053.
14. Sebat J., Lakshmi B., Malhotra D., et al. Strong association of de novo copy number mutations with autism. Science 2007, 316(5823):445-449.
15. 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(9):1056-1058.
16. 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(1):13-24.
17. Burke W., Zimmern R. Moving beyond ACCE: an expanded framework for genetic test evaluation 2007, PHG Foundation, Cambridge (UK).
18. Melzer D., Hogarth S., Liddell K., et al. Genetic tests for common diseases: new insights, old concerns. BMJ 2008, 336(7644):590-593.
19. 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(7145):661-678.
20. 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(18):7501-7506.
21. Stefansson H., Ophoff R.A., Steinberg S., et al. Common variants conferring risk of schizophrenia. Nature 2009, 460(7256):744-747.
22. Hardy J., Singleton A. Genomewide association studies and human disease. N Engl J Med 2009, 360(17):1759-1768.
23. Goldstein D.B. Common genetic variation and human traits. N Engl J Med 2009, 360(17):1696-1698.
24. Hirschhorn J.N. Genomewide association studies-illuminating biologic pathways. N Engl J Med 2009, 360(17):1699-1701.
25. Kraft P., Hunter D.J. Genetic risk prediction-are we there yet?. N Engl J Med 2009, 360(17):1701-1703.
26. 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(5):575-583.
27. Janssens A.C., van Duijn C.M. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet 2008, 17(R2):R166-R173.
28. 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(10):1520-1528.
29. * on direct-to-consumer genetic testing in the United States. Obstet Gynecol 2007, 110(6):1392-1395.
30. 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.
31. Shetty P. Home DNA test kits cause controversy. Lancet 2008, 371(9626):1739-1740.
32. Schmidt C. Regulators weigh risks of consumer genetic tests. Nat Biotechnol 2008, 26(2):145-146.
33. 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.
34. More genes direct: a report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public 2007, Human Genetics Commission, Human Genetics Commission, London (UK).
35. Abbing H.D. Genetic testing for health care purposes, a Council of Europe Protocol. Eur J Health Law 2008, 15(4):353-359.
36. 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.
37. 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(3):593-599.
38. 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(2):153-154.
39. Hudson K.L. Prohibiting genetic discrimination. N Engl J Med 2007, 356(20):2021-2023.
40. 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(25):2661-2663.
41. 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(2):255-271.
42. Borry P., Evers-Kiebooms G., Cornel M.C., et al. Genetic testing in asymptomatic minors. Eur J Hum Genet 2009, 17:711-719.
43. Hathaway F., Burns E., Ostrer H. Consumers' desire towards current and prospective reproductive genetic testing. J Genet Couns 2009, 18(2):137-146.
44. Rose S. The rise of neurogenetic determinism. Nature 1995, 373(6513):380-382.
45. Rose S.P. Neurogenetic determinism and the new euphenics. BMJ 1998, 317(7174):1707-1708.
46. 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(7196):1488. [author reply: 1489].
47. 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.
48. Meiser B., Dunn S. Psychological impact of genetic testing for Huntington's disease: an update of the literature. J Neurol Neurosurg Psychiatr 2000, 69(5):574-578.
49. 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(6):358-371.
50. 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(16):1835-1849.
51. Moeschler J.B. Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability. Curr Opin Neurol 2008, 21(2):117-122.
52. Moeschler J.B. Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol 2008, 15(1):2-9.
53. Lintas C., Persico A.M. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet 2009, 46(1):1-8.
54. 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(2):121-128.
55. 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(16):1349-1356.
56. 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(2):86-93.
57. 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(4):197-203.
58. 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(3):245-254.
59. Wilhelm K., Meiser B., Mitchell P.B., et al. Issues concerning feedback about genetic testing and risk of depression. Br J Psychiatry 2009, 194(5):404-410.
60. 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(7):899-904.
61. 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(1):109-118.
62. 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(11):1601-1611.
63. 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(2):233-243.
64. 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(1):110-115.
65. 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(8):926-928.
66. 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(1):57-65.
67. 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.
68. Caspi A., Moffitt T.E. Gene-environment interactions in psychiatry: joining forces with neuroscience. Nat Rev Neurosci 2006, 7(7):583-590.
69. 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(5631):386-389.
70. Munafo M.R., Durrant C., Lewis G., et al. Gene X environment interactions at the serotonin transporter locus. Biol Psychiatry 2009, 65(3):211-219.
71. 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(23):2462-2471.
72. 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(1):47-51.
73. 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(11):1070-1076.
74. 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(7):821-830.
75. 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(2):245-252.
76. 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(6):439-449.
77. Phelan J.C. Geneticization of deviant behavior and consequences for stigma: the case of mental illness. J Health Soc Behav 2005, 46(4):307-322.
78. Nelkin D., Lindee M.S. " Genes made me do it": the appeal of biological explanations. Politics Life Sciences 1996, 15(1):95-97.
79. Phelan J.C. Genetic bases of mental illness-a cure for stigma?. Trends Neurosci 2002, 25(8):430-431.
80. 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(3):214-220.
81. 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(8):863-867.
82. 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.
83. Austin J.C., Honer W.G. The potential impact of genetic counseling for mental illness. Clin Genet 2005, 67(2):134-142.