Skip to main content

Transcultural Problems in the Use of Medical Genetics in Clinical Practice

  • Conference paper
Ethical Issues of Molecular Genetics in Psychiatry
  • 41 Accesses

Abstract

The appraisal of the heavy genetic load in human populations and the fear of its increase prompted Nobel Laureate Muller’s appeal (1967) to human geneticists convened at the Third International Congress of Human Genetics in Chicago, to engage in a strong offensive for the control of human evolution. Some of his words deserve mention: “Modern culture by maximal saving of lives and fertility, unaccompanied by a conscious planning which takes the genetic effects of this policy into account, must protect mutations detrimental to bodily vigor, intelligence or social predisposition […]. If genetic defects and shortcomings were to be allowed to accumulate to an unlimited extent among us, as seems to be happening now, the condition would eventually be reached in which each person likewise would present an immense, yet in his case distinctive, complex of problems of diagnosis and treatment” (pp. 526, 527). These statements were not exaggerations. A few years later, in a Technical Report of the World Health Organization (1972), a group of experts estimated that, if in the next generations all the subjects who up to now have not reached the age of fertility would reproduce, then the incidence of polygenic diseases should increase 3–5 % per generation, and the incidence of monogenic diseases should increase 15 % per generation globally, and would double after seven generations. Muller’s appeal and proposals were echoed and supported by other distinguished geneticists (Sonneborn 1965; Lederberg 1966). Medicine, which at that time was being attracted by the power of the rapidly growing field of human genetics to promote a better understanding of human disease, felt inevitably involved in that enterprise (Motulsky 1968), and Medical Genetics developed as a new branch.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Aken HD (1973) Life and right to life. In: Holton B, Callahan D, Harris M, Condliffe P, Berkley B (eds) Ethical issues in human genetics. Plenum, New York, pp 173–183

    Google Scholar 

  • Anderson WF (1984) Prospects for human gene therapy. Science 226: 401–409

    Article  PubMed  CAS  Google Scholar 

  • Anderson WF (1985) Human gene therapy: scientific and ethical considerations. J Med Philos 10: 275–291

    PubMed  CAS  Google Scholar 

  • Anderson WF (1989) Human gene therapy: why draw a line? J Med Philos 14: 681–693

    PubMed  CAS  Google Scholar 

  • Annas GJ, Elias S (1990) Legal and ethical implications of fetal diagnosis and gene therapy. Am J Med Genet 35: 215–218

    Article  PubMed  CAS  Google Scholar 

  • Antonarakis SE (1988) Diagnosis of genetic disorders at the DNA level. N Engl J Med 320: 153–163

    Article  Google Scholar 

  • Bacchetti S, Graham FL (1977) Transfer of the gene for thymidine kinase to thymidine kinase deficient human cells by means of purified Herpes simplex viral DNA. Proc Natl Acad Sci USA 74: 1590–1594

    Article  PubMed  CAS  Google Scholar 

  • Belmont JW, Enkel-Tigges J (1986) Expression of human adenosine deaminase in murine haematopoietic progenitor cells following retroviral transfer. Nature 322: 385–387

    Article  PubMed  CAS  Google Scholar 

  • Berg P (1981) Dissection and reconstruction of genes and chromosomes. Science 213: 296–303

    Article  PubMed  CAS  Google Scholar 

  • Birch C, Abrecht P (eds) (1975) On behalf of World Council of Churches: genetics and the quality of life. Pergamon, London, pp 200–223

    Google Scholar 

  • Bloch M, Hayden MR (1990) Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet 46: 1–4

    PubMed  CAS  Google Scholar 

  • Boehm CD (1988) Prenatal diagnosis and carrier detection by DNA analysis. Progr Med Genet [New Ser] 7: 143–179

    CAS  Google Scholar 

  • Borgaonkar DS (1980) Chromosomal variation in man. A catalog of chromosome variants and anomalies, 3rd edn Liss, New York

    Google Scholar 

  • Bradshaw RA, Prentis S (eds) (1987) Oncogenes and growth factors. Elsevier, Amsterdam

    Google Scholar 

  • Brambati B, Lanzani A, Tului L (1990) Transabdominal and transcervical chorionic villus sampling: efficiency and risk evaluation of 2411 cases. Am J Med Genet 35: 160–164

    Article  PubMed  CAS  Google Scholar 

  • Burgess AHM, Logan C, Hu X, Beifall B, Worton RG, Ray PN (1987) A cDNA clone from the Duchenne-Becker muscular dystrophy gene. Nature 328: 434–437

    Article  Google Scholar 

  • Capecchi MR (1980) High efficiency transformation by direct microinjection of DNA into cultured mammalian cells. Cell 22: 479–488

    Article  PubMed  CAS  Google Scholar 

  • Capecchi MR (1989) Altering the genome by homologous recombination. Science 244: 1288–1292

    Article  PubMed  CAS  Google Scholar 

  • Caskey CT (1987) Disease diagnosis by recombinant DNA methods. Science 236: 1223–1228

    Article  PubMed  CAS  Google Scholar 

  • Caskey CT, Kaback MM, Beaudet AL, Cavalli-Sforza LL (1990) The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet 46: 393

    PubMed  CAS  Google Scholar 

  • Cold Spring Harbor Symposia on Quantitative Biology (1986) Molecular biology of Homo sapiens. Cold Spring Harbor Laboratory, Cold Spring Harbor

    Google Scholar 

  • Collaborative Study (1975) on the frequency of inborn errors of metabolism. Humangenetik 30: 273–286

    Article  Google Scholar 

  • Colten HR (1990) Screening for cystic fibrosis: public policy and personal choice. N Engl J Med 322: 328–329

    Article  PubMed  CAS  Google Scholar 

  • Congregation for the Doctrine of the Faith (1987) Instruction on respect for human life in its origin and on the dignity of procreation. Poliglotta Vaticana, Vatican City

    Google Scholar 

  • Costantini F, Chada K, Magram J (1986) Correction of murine beta-thalassemia by gene transfer into the germ line. Science 233: 1192–1194

    Article  PubMed  CAS  Google Scholar 

  • Darras BT, Koenig M, Kunkel LM, Francke U (1988) Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet 29: 713–726

    Article  PubMed  CAS  Google Scholar 

  • De Grouchy J, Turleau C (1982) Atlas des maladies chromosomiques, 2nd edn. Expansion Scientifique Française, Paris

    Google Scholar 

  • Den Dunnen JT, Bakker E, Klein Breteler EG, Pearson PL, van Ommen G-JB (1987) Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 329: 640–642

    Article  Google Scholar 

  • Donald I (1969) Ultrasonic in diagnosis (sonar). Proc R Soc Med 62: 442–446

    PubMed  CAS  Google Scholar 

  • Donis-Keller H, Botstein D (1988) Recombinant DNA methods: application to human genetics. Progr Med Genet [New Ser] 7: 17–42

    CAS  Google Scholar 

  • Donis-Keller H, Barker DF, et al. (1986) Highly polymorphic RFLP probes as diagnostic tools. Cold Spring Harbor Symp Quant Biol 51: 317–324

    PubMed  CAS  Google Scholar 

  • Donis-Keller H, Green P, et al. (1987) A genetic linkage map of the human genome. Cell 51: 319–337

    Article  PubMed  CAS  Google Scholar 

  • Dunstan GR (1988) Screening for fetal and genetic abnormality: Social and ethical issues. J Med Genet 25: 290–293

    Article  PubMed  CAS  Google Scholar 

  • Dzierzak E, Papayannopoulou T, Mullingan RC (1988) Lineage specific expression of a human beta-globin gene in murine bone marrow transplants recipients reconstituted with retrovirus-transduced stem cells. Nature 331: 35–41

    Article  PubMed  CAS  Google Scholar 

  • Editorial (1990) Cystic fibrosis: prospects for screening and therapy. Lancet 335: 79–80

    Article  Google Scholar 

  • Epstein CJ, Golbus MS (1978) The prenatal diagnosis of genetic disorders. Annu Rev Med 29: 117–128

    Article  PubMed  CAS  Google Scholar 

  • Fletcher JC (1990) Evolution of ethical debate about human gene therapy. Hum Gene Ther 1: 55–68

    Article  PubMed  CAS  Google Scholar 

  • Forrest SM, Cross GS, Speer A, Gardner-Medwin D, Burnas J, Davies KE (1987) Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 329: 638–640

    Article  PubMed  CAS  Google Scholar 

  • Friedmann T (1989) Progress toward human gene therapy. Science 244: 1275–1281

    Article  PubMed  CAS  Google Scholar 

  • Friedmann T (1990) Opinion: the human genome project. Some implications of extensive “reverse genetic” medicine. Am J Hum Genet 46: 407–414

    PubMed  CAS  Google Scholar 

  • Fuchs F (1972) Discussion to the paper of Hsia DYY In: Harris M (ed) Ethical problems in human genetics: early diagnosis of genetic defects. DHEW, Washington

    Google Scholar 

  • Galjaard H (1980) Genetic metabolic diseases. Early diagnosis and prenatal analysis. Elsevier/North-Holland, Amsterdam

    Google Scholar 

  • Gilbert F (1990) Is population screening for cystic fibrosis appropriate now? Am J Hum Genet 46: 395–396

    Google Scholar 

  • Goldberger JD, Golbus MS (1988) Chorionic villus sampling. Adv Hum Genet 17: 1–25

    Article  Google Scholar 

  • Gordon JW (1990) Micromanipulation of embryos and germ cells: an approach to gene therapy?. Am J Med Genet 35: 206–214

    Article  PubMed  CAS  Google Scholar 

  • Gregg RG, Smithies O (1986) Targeted modification of human chromosomal genes. Cold Spring Harbor Symp Quant Biol 51: 1093–1099

    PubMed  CAS  Google Scholar 

  • Hall A (1986) Oncogenes. Genet Eng 5: 61–116

    CAS  Google Scholar 

  • Hammer RE, Palmiter RD, Bringster RL (1984) Partial correction of murine hereditary growth disorder by germ-line incorporation of a new gene. Nature 371: 15–67

    Google Scholar 

  • Handyside AH, Kontogianni EH, Hardy K, Winston RML (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768–770

    Article  PubMed  CAS  Google Scholar 

  • Hansman M (1979) Sonar in prenatal diagnosis. In: Murken JD, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 155–183

    Google Scholar 

  • Harper PS, Clarke A (1990) Should we test children for “adult” genetic disease? Lancet 335: 1205–1206

    Article  PubMed  CAS  Google Scholar 

  • Harper PS, Frézal J, Ferguson-Smith MA, Schinzel A (1989) Report of the Committee on Clinical Disorders and Chromosome Deletion Syndromes. Human Gene Mapping 10. Cytogenet Cell Genet 51: 563–611

    Article  PubMed  CAS  Google Scholar 

  • Harris H (1975) The principles of biochemical genetics, 2nd edn. North-Holland, Amsterdam

    Google Scholar 

  • Holding G, Monk M (1989) Diagnosis of beta-thalassemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet 2; 532–535

    Article  PubMed  CAS  Google Scholar 

  • Hsia DYY (1972) Detection of heterozygotes. In: Harris M (ed) Ethical problems in human genetics: early diagnosis of genetic defects. DHEW, Washington, pp. 105–120 (Fogarty International Center publication, proceedings no 6)

    Google Scholar 

  • Human Gene Mapping 10 (1989) New Haven Conference. 10th International Workshop on Human Gene Mapping. Cytogenet. Cell Genet. 51, vols 1–4

    Google Scholar 

  • Jouppila P (1971) Ultrasound in the diagnosis of early pregnancy and its complications. Acta Obst et Gynecol Scand [Suppl] 15

    Google Scholar 

  • Kazazian HH Jr., Antonarakis SE (1988) The varieties of mutation. Progr Med Genet [New Ser] 7: 43–67

    Google Scholar 

  • Kazy Z, Rozovsky IS, Bakharev VA (1982) Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders. Prenatal Diagn 2: 39–45

    Article  Google Scholar 

  • Kerem B-S, Rommens JM, Buchanan JA, et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073–1080

    Article  PubMed  CAS  Google Scholar 

  • Klein G (1987) The approaching era of the tumor suppressor genes. Science 238: 1539–1545

    Article  PubMed  CAS  Google Scholar 

  • Knudson AG (1986) Hereditary cancer, oncogenes and antioncogenes. Cancer Res 45: 1437–1443

    Google Scholar 

  • Lederberg J (1966) Experimental genetics and human evolution. The American Naturalist 100: 519–525, 1966

    Article  Google Scholar 

  • Ledley FD (1987) Somatic gene therapy for human disease: a problem of eugenics? Trends Genet 3: 112–115

    Article  PubMed  Google Scholar 

  • Ledley FD, Grenett HE, et al. (1985) Gene transfer and expression of human phenylalanine hydroxilase. Science 228: 77–79

    Article  PubMed  CAS  Google Scholar 

  • Martin JB (1987) Molecular genetics: applications to the clinical neurosciences. Science 238: 765–772

    Article  PubMed  CAS  Google Scholar 

  • Mason AJ, Pitts SL, Nikolics K, Szonyi E, Wilcox JN, Seeburg PH, Stewart TA (1986) The hypogonadal mouse: reproductive functions restored by gene therapy. Science 234: 1372–1378

    Article  PubMed  CAS  Google Scholar 

  • McAlpine PJ, Shows TB, Bouchfix C, Stranc LC, Berent TG, Pakstis AJ, Douté RC (1989) Report of the Nomenclature Committee and the 1989 Catalog of Mapped Genes. Human Gene Mapping 10. Cytogenet. Cell Genet. 51: 13–66

    Article  CAS  Google Scholar 

  • McCormick RA (1981) How brave a new world? Dilemmas in bioethics. Doubleday, Garden City

    Google Scholar 

  • McKusick VA (1988) Mendelian inheritance in Man, 8th edn. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Miller AD, Palmer TD, Hock RA (1986) Transfer of genes into human somatic cells using retrovirus vectors. Cold Spring Harbor Symp. Quant. Biol. 51: 1013–1019

    PubMed  CAS  Google Scholar 

  • Monk M, Holding C (1990) Amplification of a beta-haemoglobin sequence in individual human oocytes and polar bodies. Lancet 335: 985–988

    Article  PubMed  CAS  Google Scholar 

  • Monk M, Handyside A, Hardy K, Whittingam D (1987) Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyltransferase in a mouse model for Lesch-Nyhan syndrome. Lancet 2: 423–425

    Article  PubMed  CAS  Google Scholar 

  • Motulsky AG (1968) Human genetics, society and medicine. J Hered 59: 329–342

    PubMed  CAS  Google Scholar 

  • Motulsky AG (1983) Impact of genetic manipulation on Society and Medicine. Science 219: 135–140

    Article  PubMed  CAS  Google Scholar 

  • Muller HJ (1967) What genetic course will man steer? In: Crow JF, Neel JV (eds) Proceedings of the 3rd International Congress on Human Genetics. Johns Hopkins, Baltimore, pp 521–535

    Google Scholar 

  • Murken JD, Stengel-Rutkovski S, Schwinger E (eds) (1979) Prenatal diagnosis Proceedings of the 3rd European conference on prenatal diagnosis of genetic disorders. Enke, Stuttgart, pp 1–14, 22–28, 34–45, 65–72, 73–84, 88–93

    Google Scholar 

  • Murray RM, Gill M (1990) The potential of the pitfalls of molecular genetics for psychiatry: an overview. In: Bucyzhenkov V, Christen Y, Prilipko L (eds) Genetic approaches in the prevention of mental disorders. Springer, Berlin Heidelberg New York, pp 107–115

    Google Scholar 

  • Murray TH (1990) Human gene therapy, the public, and public policy. Hum Gene Ther 1: 49–54

    Article  PubMed  CAS  Google Scholar 

  • Nelson DL, Chang SMV et al. (1986) Gene replacement therapy for inborn errors of purine metabolism. Cold Spring Harbor Symp Quant Biol 51: 1065–1071

    PubMed  CAS  Google Scholar 

  • Orkin SH, Williams DA (1988) Gene therapy of somatic cells: status and prospects. Progr Med Genet [New Ser] 7: 130–142

    CAS  Google Scholar 

  • Parkman R (1986) The application of bone marrow transplantation to the treatment of genetic diseases. Science 232: 1373–1378

    Article  PubMed  CAS  Google Scholar 

  • Phillips JA III (1988) Clinical applications of gene mapping and diagnosis. Progr Med Genet [New Ser] 7: 68–99

    Google Scholar 

  • President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1983) Screening and counseling for genetic conditions. US Government Printing Office, Washington

    Google Scholar 

  • Rauskolb R (1979) Fetoscopy in Western Europe. A short preliminary survey. In: Murken JD, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 193–201

    Google Scholar 

  • Rifkin J (1983) Algeny. Viking, New York

    Google Scholar 

  • Riordan JR, Rommens JM, Kerem B-S, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066–1073

    Article  PubMed  CAS  Google Scholar 

  • Roberts L (1990) To test or not to test? Science 247: 17–18

    Article  PubMed  CAS  Google Scholar 

  • Rommens JM, Iannuzzi MC, Kerem B-S, et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059–1065

    Article  PubMed  CAS  Google Scholar 

  • Schmidtke J (1986) Diagnosis of genetic disease using recombinant DNA. Hum Genet 73: 1–11

    Article  PubMed  Google Scholar 

  • Scrimgeour JB (1973) Amniocentesis: technique and complications. In: Emery AEH (ed) Antenatal diagnosis of genetic disease. Livingstone, Edinburgh pp 11–39

    Google Scholar 

  • Scrimgeour JB (1979) Fetoscopy. The future. In: Murken JD, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 202–205

    Google Scholar 

  • Seiden RF, Skoskiewicz MJ, et al. (1987) Implantation of genetically engineered fibroblasts into mice: implications for gene therapy. Science 236: 714–718

    Article  Google Scholar 

  • Simoni G, Brambati B, Danesino G, et al. (1984) Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet 66: 252–259

    Article  PubMed  CAS  Google Scholar 

  • Sonneborn TM (ed) (1965) The control of human heredity and evolution. McMillan, New York

    Google Scholar 

  • Sorge J, Kuhl W, West C, Beutler E (1986) Gaucher disease: retrovirus-mediated correction of the enzymatic defect in cultured cells. Cold Spring Harbor Symp Quant Biol 51: 1041–1046

    PubMed  CAS  Google Scholar 

  • Stanbury JB, Wyngaarden JB, Fredrickson DS (1983) The Metabolic bases of inherited disease, 4th edn. McGraw-Hill, New York

    Google Scholar 

  • Super M, Schwarz MJ, Sardhavalla IB (1990) CF screening. Nature 344: 113–114

    Article  PubMed  CAS  Google Scholar 

  • Thomas KR, Capecchi MR (1986) Targeting of genes to specific sites in the mammalian genome. Cold Spring Harbor Symp Quant Biol 51: 1101–1113

    PubMed  CAS  Google Scholar 

  • Varmus HE (1984) The molecular genetics of cellular oncogenes. Annu Rev Genet 18: 553–612

    Article  PubMed  CAS  Google Scholar 

  • Ward RHT, Modell B, Petrou M, Karagozlu F, Douratsos E (1983) Method for sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound. Br Med J 286: 1542–1544

    Article  CAS  Google Scholar 

  • Wertz DC (1990) Ethical issues in the application of knowledge from molecular genetics to mental disorders. In: Bulyzhenkov V, Christen Y, Prilipko L (eds) Genetic approaches in the prevention of mental disorders. Springer, Berlin Heidelberg New York, pp 92–106

    Google Scholar 

  • White R, Lalouel J-M (1988) Sets of linked genetic markers for human chromosomes. Annu Rev Genet 22: 259–279

    Article  PubMed  CAS  Google Scholar 

  • Willis RC, Jolly DJ, et al. (1984) Partial phenotypic correction of human Lesch-Nyan (hypoxanthine-guanine-phosphoribosyl-transferase-deficient) lymphoblasts with a transmissible retroviral vector. J Biol Chem 259: 7842–7849

    PubMed  CAS  Google Scholar 

  • World Council of Churches (1982) Manipulating life: ethical issues in genetic engineering. Church and Society, World Council of Churches, Geneva

    Google Scholar 

  • World Health Organization (1972) Genetic disorders: prevention, treatment and rehabilitation. WHO Tech Rep Ser 497

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1991 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Serra, A. (1991). Transcultural Problems in the Use of Medical Genetics in Clinical Practice. In: Srám, R.J., Bulyzhenkov, V., Prilipko, L., Christen, Y. (eds) Ethical Issues of Molecular Genetics in Psychiatry. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-76429-5_11

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-76429-5_11

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-76431-8

  • Online ISBN: 978-3-642-76429-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics