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Genetics – Ethical Implications of Research, Diagnostics and Counseling

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Ethics in Psychiatry

Part of the book series: International Library of Ethics, Law, and the New Medicine ((LIME,volume 45))

Abstract

The basic facts concerning mechanisms of inheritance and knowledge of variation within the human genome are briefly summarized, and the manner in which genetic diagnostics has been introduced into medicine is presented. Major opinions on ethical issues in neuropsychiatric diseases are discussed. A series of scenarios with ethical relevance to the application of genetics to mental disorders are presented. Finally, the ethical aspects of modern research into psychiatric genetics are discussed.

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Abbreviations

CAG repeat:

Cytosin-Arginin-Guanin

CNS:

central nervous system

CNV:

copy number variant

DNA:

desoxyribonucleic acid

ELSI:

ethical, legal and social issues

ICSI:

intracytoplasmatic sperm injection

IQ:

intelligence quotient

IVF:

in-vitro-fertilization

LDL:

low density lipoproteins

OMIM:

Online Mendelian Inheritance in Man

PD:

prenatal diagnosis

PGD:

pre-implantation genetic diagnosis

PPV:

positive predictive value

SNP:

single nucleotide polymorphism

STR:

short tandem repeats, so-called microsatellites

References

  • American Society of Human Genetics (1975) Ad-Hoc-Committee on genetic counseling. Am J Hum Genet 27:240–242

    Google Scholar 

  • Cao A (2002) Carrier screening and genetic counselling in beta-thalassemia. Int J Hematol 76(Supplement 2):105–113

    Article  Google Scholar 

  • Cook EH, Scherer SW (2008) Copy-number variations associated with neuropsychiatric conditions. Nature 455:919–923

    Article  Google Scholar 

  • Council of Europe (2009) Additional protocol to the convention of human rights and biomedicine, concerning genetic testing for health purposes. Council of Europe Treaty Series No. 203 (1102/2009). Also: http://conventions.coe.int/Treaty/Commun/QueVoulezVous.asp?NT=203&CM=8&DF=4/8/2009&CL=ENG

  • Couzin J (2008) Whole-genome data not anonymus, challenging assumptions. Science 321:1278

    Article  Google Scholar 

  • Deutsche Gesellschaft für Humangenetik (1995, 2007) Leitlinie – Genetische Diagnostik bei Kindern und Jugendlichen. http://gfhev.de/de/leitlinien/LL_und_Stellungnahmen/2007

  • Deutsche Gesellschaft für Humangenetik (2007) Positionspapier der Deutschen Gesellschaft für Humangenetik. http://www.medgenetik.de/sonderdruck/2007_gfh_positionspapier.pdf

  • Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Möslein G, Mangold E, Propping P (2001) Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48:515–521

    Article  Google Scholar 

  • Galton F (1865) Hereditary talent and character. Cited after Vogel F (1961) Lehrbuch der allgemeinen Humangenetik. Springer, Berlin, Heidelberg, New York, NY

    Google Scholar 

  • Gene Tests http://www.genetests.org/

  • German National Ethics Council (2004) Biobanks for research. Nationaler Ethikrat, Berlin http://www.ethikrat.org/_english/publications/Opinion_Biobanks-for-research.pdf

  • Grotjahn A (1912) Soziale Pathologie. von August Hirschwald, Berlin

    Google Scholar 

  • Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY et al (1983) A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306:234–238

    Article  Google Scholar 

  • Hauksson P (1999) Icelanders opt out of genetic database. Nature 400:707

    Article  Google Scholar 

  • Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J, Pearson JV, Stephan DA, Nelson SF, Craig DW (2008) Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet 4(8):e1000167

    Article  Google Scholar 

  • Homsma SJ, Huijgen R, Middeldorp S, Sijbrands EJ, Kastelein JJ (2008) Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance. Eur J Hum Genet 16:14–17

    Article  Google Scholar 

  • Illes F, Rietz C, Fuchs M, Ohlraun S, Prell K, Rudinger G, Maier W, Rietschel M (2003) Einstellung zu psychiatrisch-genetischer Forschung und prädiktiver Diagnositk. Ethik Med 15:268–281

    Article  Google Scholar 

  • Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K (1993) Tay-Sachs disease–carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 270:2307–2315

    Article  Google Scholar 

  • Keymolen K, Goossens V, De Rycke M, Sermon K, Boelart K, Bonduelle M, Van Steirteghem A, Liebaers I (2007) Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels’ experience. Eur J Hum Genet 15:752–758

    Article  Google Scholar 

  • Koay PP (2004) An icelandic (ad-)venture: New research? New subjects? New ethics? In: Roelcke V, Maio G (eds) Twentieth century ethics of human subjects research. Franz Steiner, Stuttgart, pp 335–348

    Google Scholar 

  • Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB (2009) Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutation 30:283–292

    Article  Google Scholar 

  • Levy HL (2003) Lessons from the past – looking to the future. Pediatr Ann 32:505–508

    Google Scholar 

  • Lippman A (1992) Led (astray) by genetic maps: the cartography of the human genome and healthcare. Soc Sci Med 35:1469–1476

    Article  Google Scholar 

  • Mascalzoni D, Hicks A, Pramstaller P, Wjst M (2008) Informed consent in the genomics era. PLoS Med 5(9):e192

    Article  Google Scholar 

  • Metzger S, Rong J, Nguyen HP, Cape A, Tomiuk J, Soehn AS, Propping P, Freudenberg-Hua Y, Freudenberg J, Tong L, Li SH, Li XJ, Riess O (2008) Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington’s disease. Hum Mol Genet 11:1137–1146

    Article  Google Scholar 

  • Nuffield Council on Bioethics (1998) Mental disorders and genetics: the ethical context. Nuffield Council on Bioethics, London

    Google Scholar 

  • O’Donovan MC, Norton N, Williams H, Peirce T, Moskvina V, Nikolov I, Hamshere M, Carroll L, Georgieva L, Dwyer S, Holmans P, Marchini JL, Spencer CC, Howie B, Leung HT, Giegling I, Hartmann AM, Möller HJ, Morris DW, Shi Y, Feng G, Hoffmann P, Propping P, Vasilescu C, Maier W, Rietschel M, Zammit S, Schumacher J, Quinn EM, Schulze TG, Iwata N, Ikeda M, Darvasi A, Shifman S, He L, Duan J, Sanders AR, Levinson DF, Adolfsson R, Osby U, Terenius L, Jönsson EG, Cichon S, Nöthen MM, Gill M, Corvin AP, Rujescu D, Gejman PV, Kirov G, Craddock N, Williams NM, Owen MJ, Molecular Genetics of Schizophrenia Collaboration (2009) Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Mol Psychiatry 14:30–36

    Article  Google Scholar 

  • OMIM – Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim

  • Paul D (2001) History of eugenics. In: Smelser NJ, Baltes PB (eds) International encyclopedia of the social & behavioral sciences. Elsevier, Amsterdam, pp 4896–4901

    Chapter  Google Scholar 

  • Propping P (2002) Die Freiheit des Menschen im Zeitalter der Genetik. In: Elsner N and Schreiber H-L (Hrsg) Was ist der Mensch?. Wallstein, Göttingen, pp 127–142

    Google Scholar 

  • Propping P (2005) The biography of psychiatric genetics: from early achievements to historical burden, from an anxious society to critical geneticists. Am J Med Genet B Neuropsychiatr Genet 136B:2–7

    Article  Google Scholar 

  • Reed S (1974) History of genetic counseling. Soc Biol 21:332–339

    Google Scholar 

  • Rüdin E (1911) Einige Wege und Ziele der Familienforschung, mit Rücksicht auf die Psychiatrie. Z Ges Neurol Psychiat 7:487–585

    Article  Google Scholar 

  • Schulze TG, Fangerau H, Propping P (2004) From degeneration to genetic susceptibility, from eugenics to genethics, from Bezugsziffer to LOD score: the history of psychiatric genetics. Int Rev Psychiatry 16:246–259

    Article  Google Scholar 

  • Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Mühleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B; GROUP, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nöthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K (2008) Large recurrent microdeletions associated with schizophrenia. Nature 455:232–236

    Article  Google Scholar 

  • Strachan T, Read AP (2004) Human molecular genetics. Garland Science, London

    Google Scholar 

  • Biobank UK. http://www.ukbiobank.ac.uk/

  • Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, Defesche JC (2001) Review of first 5 years of screening for familial hypercholesterolaemia in The Netherlands. Circulation 106:3031–3036

    Article  Google Scholar 

  • Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche JC, Kastelein JJ, Thorogood M (2004) Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 4:97–104

    Article  Google Scholar 

  • Went L (1990) Ethical issues policy statement on Huntington’s disease molecular genetics predictive test. International Huntington Association. World Federation of Neurology. J Med Genet 27:34–38

    Article  Google Scholar 

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Propping, P. (2010). Genetics – Ethical Implications of Research, Diagnostics and Counseling. In: Helmchen, H., Sartorius, N. (eds) Ethics in Psychiatry. International Library of Ethics, Law, and the New Medicine, vol 45. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-8721-8_27

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  • DOI: https://doi.org/10.1007/978-90-481-8721-8_27

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