To review the role of genetic counselling for individuals with psychiatric illnesses.
Method:
Using schizophrenia as an example and including updated information about a genetic subtype (22q deletion syndrome), we discuss the value of the genetic counselling process in psychiatry, with support from the literature and our clinical experience.
Results:
Genetic counselling, the process through which knowledge about the genetics of illnesses is shared, provides information on the inheritance of illnesses and their recurrence risks; addresses the concerns of patients, their families, and their health care providers; and supports patients and their families dealing with these illnesses. For comprehensive medical management, this service should be available to all individuals with schizophrenia and their families.
Conclusions:
New findings in the genetics of psychiatric illness may have important clinical implications for patients and their families.
Erlenmeyer-KimlingL.Schizophrenia: A bag of dilemmas. Soc Biol1976;23:123–34.
2.
BookJWetterbergL.Management of schizophrenic psychoses: Implications of genetic and metabolic investigations. Prog Clin Biol Res1979;34:71–9.
3.
KayD.Assessment of familial risks in the functional psychoses and their application in genetic counselling. Br J Psychiatry1978;133:385–403.
4.
KarlssonJ.Inheritance of schizophrenia. Acta Psychiatr ScandSuppl1974;47:1–116.
5.
CroweR.Is genetic counselling appropriate for psychiatric illness. In: BradyJBrodieH, editors. Controversy in psychiatry. Philadelphia: Saunders; 1978.
6.
KetySMatthysseSKiddK.Genetic counselling for schizophrenic patients and their families. In: BradyJBrodieH, editors. Controversy in psychiatry. Philadelphia: Saunders; 1978.
7.
RainerJ.Perspectives on the genetics of schizophrenia: A re-evaluation of Kallman's contribution—its influence and current relevance. Psychiatr Q1972;6:356–62.
8.
ReedS.Genetic counselling in schizophrenia. In: KaplanA, editor. Genetic factors in schizophrenia. Springfield (Ill): Thomas; 1972. p 315–24.
9.
ReveleyA.Genetic counselling for schizophrenia. Br J Psychiatry1985;147:107–12.
10.
StancerHWagnerD.Genetic counselling: Its need in psychiatry and the directions it gives for future research. Can J Psychiatry1984;9:289–94.
11.
TargumSSchultzS.Clinical applications of psychiatric genetics. Am J Orthopsychiatry1982;52:45–57.
12.
TsuangM.Genetic counselling for psychiatric patients and their families. Am J Psychiatry1978;135:1465–75.
13.
WhitefordHPriceJ.Genetic counselling and psychiatric illness. Aust Fam Physician1987;16:958–64.
14.
ReedS.Counselling in medical genetics. Philadelphia: Saunders; 1955.
15.
FraserF.Genetic counselling. Am J Hum Genet1974;26:636–9.
16.
HarperP.Practical genetic counselling. London: Reed Educational and Professional Publishing Ltd; 1998.
17.
AndreasenNRiceJEndicottJReichTCoryellW.The family history approach to diagnosis. How useful is it? Arch Gen Psychiatry1986;43:421–9.
18.
ReedSHartleyCElving-AndersonVPhilipsPJohnsonN.The psychoses: Family studies. Philadelphia: W-B-Saunders; 1973.
19.
KendlerKSDiehlSR. The genetics of schizophrenia: A current, genetic-epidemiologic perspective. Schizophr Bull1993;19:261–84.
20.
CraddockNJonesI.Genetics of bipolar disorder. J Med Genet1999;36:585–94.
21.
NestadtGSamuelsJRiddleMBienvenuO.A family study of obsessive-compulsive disorder. Arch Gen Psychiatry2000;57:358–63.
22.
SciutoGPasqualeLBellodiL.Obsessive compulsive disorder and mood disorders: A family study. Am J Med Genet1995;60:475–9.
23.
BellodiLSciutoGDiaferiaGRonchiPSmeraldiE.Psychiatric disorders in the families of patients with obsessive-compulsive disorder. Psychiatry Res1992;42:111–20.
24.
BlackDNoyesRJGoldsteinRBlumN.A family study of obsessive-compulsive disorder. Arch Gen Psychiatry1992;49:362–8.
25.
PalmourR.Genetic counselling for affective disease. Psychiatric Journal of the University of Ottawa1989; 14:323–7.
26.
WeissmanMWickramaratneP.Age of onset and familial risk in major depression. Arch Gen Psychiatry2000;57:513–4.
27.
ReichTHinrichsACulverhouseRBierutL.Genetic studies of alcoholism and substance dependence. Am J Hum Genet1999;65:599–605.
28.
RiceDMillerL.Helath economics and cost implications of anxiety and other mental disorders in the United States. Br J Psychiatry1998;173(Suppl. 34):4–9.
29.
BlandRC. Long term mental illness in Canada. Can J Psychiatry1984;29:242–6.
30.
WinefieldH.Determinants of psychological distress in relatives of people with chronic schizophrenia. Schizophr Bull1993;19:619–25.
31.
GottesmanI.Schizophrenia genesis: The origins of madness. New York: W-H Freeman and Company; 1991.
32.
CardnoAGMarshallEGCoidBMacdonaldAMRibchesterTRDaviesNJ, and others. Heritability estimates for psychotic disorders. Arch Gen Psychiatry1999;56:162–8.
33.
FranzekEBeckmannH.Different genetic background of schizophrenia spectrum psychoses: A twin study. Am J Psychiatry1998;155:76–83.
34.
RosenthalDWenderPHKetySSWelnerJSchulsingerF.The adopted-away offspring of schizophrenics. Am J Psychiatry1971;128:307–11.
35.
HestonL.Psychiatric disorders in foster home reared children of schizophrenic mothers. Br J Psychiatry1966;112:819–25.
36.
KarlssonJ.The biological basis of schizophrenia. Springfield (Ill): Charles C Thomas; 1966.
37.
McGuffinPOwenMJFarmerAE. Genetic basis of schizophrenia. Lancet1995;346:678–82.
38.
KendlerKSMcGuireMGruenbergAMO'HareASpellmanMWalshD.The Roscommon family study I. Methods, diagnosis of probands, and risk of schizophrenia in relatives. Arch Gen Psychiatry1993;50:527–40.
39.
TsuangMFaraoneSLyonsM.Advances in psychiatric genetics. In: Costa de SilvaJANadelsonCAndreasonN, editors. International review of psychiatry. Washington (DC): American Psychiatric Press; 1993.
40.
KallmanF.The genetics of schizophrenia. Locust Valley (NY): J-J Austin Inc; 1938.
41.
MaierWLichtermannDMingesJHeunR.Personality disorders among the relatives of schizophrenia patients. Schizophr Bull1994;20:481–93.
42.
FarmerAEMcGuffinPGottesmanIITwin concordance for DSM-III schizophrenia. Arch Gen Psychiatry1987;44:634–41.
43.
GottesmanIShieldsJ.Schizophrenia: The epigenetic puzzle. Cambridge: Cambridge University Press; 1982.
44.
FarmerAOwenM.Genomics: The next psychiatric revolution?Br J Psychiatry1996;169:135–8.
45.
GottesmanIShieldsJ.A polygenic theory of schizophrenia. Proc Natl Acad Sci U S A1967;58:199–205.
46.
FalconerD.The inheritance of liability to certain diseases, estimated from the incidence among the relatives. Ann Hum Genet1965;29:51–76.
47.
RischN.Linkage strategies for genetically complex traits: I. Multilocus models. Am J Hum Genet1990;46:222–8.
48.
FarmerAOwenMMcGuffinP.Bioethics and genetic research in psychiatry. Br J Psychiatry2000;176:105–8.
49.
GottesmanIIBertelsenA.Confirming unexpressed genotypes for schizophrenia. Arch Gen Psychiatry1989;46:867–72.
50.
KringlenECramerG.Offspring of monozygotic twins discordant for schizophrenia. Arch Gen Psychiatry1989;46:873–7.
51.
LanderEKruglyakL.Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genet1995;11:241–7.
52.
BrzustowiczLHodgkinsonKChowEHonerWBassettA.Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21–22. Science2000;288(5466):678–81.
53.
BrzustowiczLHonerWGChowEWCLittleDHoganJHodgkinsonK, and others. Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet1999;65:1096–1103.
54.
BlouinJ-LDombroskiBANathSKLasseterVKWolyniecPSNestadtG, and others. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet1998;20:70–3.
55.
Detera-WadleighSBadnerJABerrettiniWHYoshikawaTGoldinLRTurnerG, and others. A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc Natl Acad Sci1999;96:5604–9.
56.
BassettASChowEWCWaterworthDBrzustowiczL.Genetic insights into schizophrenia. Can J Psychiatry2001;46:131–7.
57.
ProppingPNothenMM. Schizophrenia: Genetic tools for unraveling the nature of a complex disorder. Proc Natl Acad Sci U S A1995;92:7607–8.
58.
KarayiorgouMGogosJAGalkeBLJefferyJANestadtGWolyniecPS, and others. Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor Symposia on Quantitative Biology1996;61:835–43.
59.
BassettASChowEWC. 22q11 Deletion Syndrome: A genetic subtype of schizophrenia. Biol Psychiatry1999;46:882–91.
60.
du MontcelSTMendizabalHAymeSLevyAPhilipN.Prevalence of 22q11 microdeletion [letter]. J Med Genet1996;33:719.
61.
DemczukSAuriasA.DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: A review. Ann Genet1995;38:59–76.
62.
GoodshipJCrossIScamblerPBurnJ.Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet1995;32:746–8.
63.
FryerA.Monozygotic twins with 22q11 deletion and discordant phenotypes. J Med Genet1996;33:261–4.
64.
HatchwellE.Monozygotic twins with chromosome 22q11 deletion and discordant phenotype [letter]. J Med Genet1996;33:261–4.
65.
VincentM-CHeitzFTricoireJBourrouillouGKuhleinERollandMCalvasP.22q deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet Couns1999;10:43–9.
66.
BassettASChowEWCScuttLHodgkinsonKWeksbergR.Psychiatric phenotype of a genetic subtype of schizophrenia. Schizophr Res1999;36:87.
67.
MurphyKCJonesALOwenMJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry1999;56:940–5.
68.
PulverAENestadtGGoldbergRShprintzenRJLamaczMWolyniecPS, and others. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis1994;182:476–8.
69.
KarayiorgouMMorrisMAMorrowBShprintzenRJGoldbergRBorrowJ, and others. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A1995;92:7612–6.
70.
ChenC-HLeeY-RChungM-YWeiF-CKoongF-JShawC-K, and others. Systematic mutation analysis of the catechol O-Methyltransferase gene as a candidate gene for schizophrenia. Am J Psychiatry1999;156:1273–5.
71.
PapolosDFFaeddaGLVeitSGoldbergRMorrowBKucherlapatiR, and others. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?Am J Psychiatry1996;153:1541–7.
72.
CohenEChowEWCWeksbergRBassettAS. The phenotype of adults with the 22q11 Deletion Syndrome: A review. Am J Med Genet1999;86:359–65.
73.
Working Group for the Canadian Psychiatric Association and the Canadian Alliance for Research on Schizophrenia. Canadian clinical practice guidelines for the treatment of schizophrenia. Can J Psychiatry1998;43(suppl 2):25S–42S.
74.
PriorTChuePTibboP.Investigation of Turner syndrome in schizophrenia. Am J Med Genet2000;96:373–8.
75.
MacQueenGRosebushPMazurekM.Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci1998;10:10–9.
76.
NavonRArgovZFrischA.Hexosaminidase A deficiency in adults. Am J Med Genet1986;24:179–96.
77.
ClarkeDBuckleyMBurnsB.Epilepsy and psychosis: Ask the family. Br J Psychiatry1987;150:702–3.
78.
TsuangDAlmqvistELipeHStrgarFDiGiacomoLHoffD, and others. Familial aggregation of psychotic symptoms in Huntington's disease. Am J Psychiatry2000;157:1955–9.
79.
BreitnerJ.Clinical genetics and genetic counselling in Alzheimer disease. Ann Intern Med1991;15:601–6.
80.
Levy-MozziconacciAPiquetCHeurtevinPCPhilipN.Prenatal diagnosis of 22q11 microdeletion. Prenat Diagn1997;17:1033–7.
81.
TurkJHillP.Behavioural phenotypes in dysmorphic syndromes. Clinical Dysmorphology1995;4:105–15.
82.
CrowTJ. The continuum of psychosis and its implication for the structure of the gene. Br J Psychiatry1986;149:419–29.
83.
RabinerCJWegnerJTKaneJM. Outcome study of first-episode psychosis, I: Relapse rates after 1 year. Am J Psychiatry1986;143:1155–8.
84.
LoebelADLiebermanJAAlvirJMJMayerhoffDIGeislerSHSzymanskiSR. Duration of psychosis and outcome in first-episode schizophrenia. Am J Psychiatry1992;149:1183–8.
85.
MoscarelliM.Health and economic evaluation in schizophrenia: Implications for health policies. Acta Psychiatr Scand1994;89 (suppl 382):84–8.
86.
MendlewiczJFieveRStalloneF.Relationship between the effectiveness of lithium therapy and family history. Am J Psychiatry1973;130:1011–3.
87.
OwenMMcGuffinP.Genetics and psychiatry. Br J Psychiatry1997;171:201–2.
88.
St George-HyslopP.Molecular genetics of Alzheimers disease. Biol Psychiatry2000;47:183–99.
89.
St George-HyslopP.Molecular genetics of Alzheimer disease. Semin Neurol1999;19:371–83.
90.
National Institute on Aging/Alzheimer's Association Working Group. Concensus statement: Apolipoprotein E genotyping in Alzheimers disease. Lancet1996;347:1091–5.
91.
BrownTLaRusseSBarberMFarrerLCupplesLPostS, and others. The REVEAL study: A new model for susceptibility genotyping, risk assessment and counselling for Alzheimer's disease. Am J Hum Genet2000;67:62A.
92.
EisenbergL.The future of psychiatry. Lancet1973;2(7842):1371–5.
93.
CaulfieldT.The law, adolescents, and the APOE epsilon 4 genotype: A view from Canada. Genetic Testing1999;3:107–13.
94.
PetersenG.Knowledge of the adenomatous polyposis coli gene and its clinical application. Ann Med1994;26:205–8.
95.
ASHG/ACMG report. Points to consider: Ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet1995;57:1233–41.
96.
BenjaminCAdamSWigginsSTheilmannJCopleyTBlochM, and others. Proceed with card: Direct predictive testing for Huntington disease. Am J Hum Genet1994;55:606–17.
97.
McConnellLKoenigBGreelyHRaffinT.Genetic testing and Alzheimer disease: Recommendations of the Stanford program in genomics, ethics and society. Genetic Testing1999;3:3–12.
98.
TrippitelliCJamisonKFolsteinMBartkoJDePauloR.Pilot study on patients' and spouses' attitudes toward potential genetic testing for bipolar disorder. Am J Psychiatry1998;155:899–904.
99.
VogelFMotulskyAG. Human genetics: Problems and approaches. Berlin Heidelberg: Springer-Verlag; 1997.
