Transcultural Problems in the Use of Medical Genetics in Clinical Practice

  • A. Serra
Conference paper

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.

Keywords

Europe Recombination Adenosine Capron Adenine 

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References

  1. 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 173–183Google Scholar
  2. Anderson WF (1984) Prospects for human gene therapy. Science 226: 401–409PubMedCrossRefGoogle Scholar
  3. Anderson WF (1985) Human gene therapy: scientific and ethical considerations. J Med Philos 10: 275–291PubMedGoogle Scholar
  4. Anderson WF (1989) Human gene therapy: why draw a line? J Med Philos 14: 681–693PubMedGoogle Scholar
  5. Annas GJ, Elias S (1990) Legal and ethical implications of fetal diagnosis and gene therapy. Am J Med Genet 35: 215–218PubMedCrossRefGoogle Scholar
  6. Antonarakis SE (1988) Diagnosis of genetic disorders at the DNA level. N Engl J Med 320: 153–163CrossRefGoogle Scholar
  7. 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: 1590–1594PubMedCrossRefGoogle Scholar
  8. Belmont JW, Enkel-Tigges J (1986) Expression of human adenosine deaminase in murine haematopoietic progenitor cells following retroviral transfer. Nature 322: 385–387PubMedCrossRefGoogle Scholar
  9. Berg P (1981) Dissection and reconstruction of genes and chromosomes. Science 213: 296–303PubMedCrossRefGoogle Scholar
  10. Birch C, Abrecht P (eds) (1975) On behalf of World Council of Churches: genetics and the quality of life. Pergamon, London, pp 200–223Google Scholar
  11. Bloch M, Hayden MR (1990) Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet 46: 1–4PubMedGoogle Scholar
  12. Boehm CD (1988) Prenatal diagnosis and carrier detection by DNA analysis. Progr Med Genet [New Ser] 7: 143–179Google Scholar
  13. Borgaonkar DS (1980) Chromosomal variation in man. A catalog of chromosome variants and anomalies, 3rd edn Liss, New YorkGoogle Scholar
  14. Bradshaw RA, Prentis S (eds) (1987) Oncogenes and growth factors. Elsevier, AmsterdamGoogle Scholar
  15. 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: 160–164PubMedCrossRefGoogle Scholar
  16. 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: 434–437CrossRefGoogle Scholar
  17. Capecchi MR (1980) High efficiency transformation by direct microinjection of DNA into cultured mammalian cells. Cell 22: 479–488PubMedCrossRefGoogle Scholar
  18. Capecchi MR (1989) Altering the genome by homologous recombination. Science 244: 1288–1292PubMedCrossRefGoogle Scholar
  19. Caskey CT (1987) Disease diagnosis by recombinant DNA methods. Science 236: 1223–1228PubMedCrossRefGoogle Scholar
  20. 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: 393PubMedGoogle Scholar
  21. Cold Spring Harbor Symposia on Quantitative Biology (1986) Molecular biology of Homo sapiens. Cold Spring Harbor Laboratory, Cold Spring HarborGoogle Scholar
  22. Collaborative Study (1975) on the frequency of inborn errors of metabolism. Humangenetik 30: 273–286CrossRefGoogle Scholar
  23. Colten HR (1990) Screening for cystic fibrosis: public policy and personal choice. N Engl J Med 322: 328–329PubMedCrossRefGoogle Scholar
  24. 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 CityGoogle Scholar
  25. Costantini F, Chada K, Magram J (1986) Correction of murine beta-thalassemia by gene transfer into the germ line. Science 233: 1192–1194PubMedCrossRefGoogle Scholar
  26. 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: 713–726PubMedCrossRefGoogle Scholar
  27. De Grouchy J, Turleau C (1982) Atlas des maladies chromosomiques, 2nd edn. Expansion Scientifique Française, ParisGoogle Scholar
  28. 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: 640–642CrossRefGoogle Scholar
  29. Donald I (1969) Ultrasonic in diagnosis (sonar). Proc R Soc Med 62: 442–446PubMedGoogle Scholar
  30. Donis-Keller H, Botstein D (1988) Recombinant DNA methods: application to human genetics. Progr Med Genet [New Ser] 7: 17–42Google Scholar
  31. Donis-Keller H, Barker DF, et al. (1986) Highly polymorphic RFLP probes as diagnostic tools. Cold Spring Harbor Symp Quant Biol 51: 317–324PubMedGoogle Scholar
  32. Donis-Keller H, Green P, et al. (1987) A genetic linkage map of the human genome. Cell 51: 319–337PubMedCrossRefGoogle Scholar
  33. Dunstan GR (1988) Screening for fetal and genetic abnormality: Social and ethical issues. J Med Genet 25: 290–293PubMedCrossRefGoogle Scholar
  34. 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: 35–41PubMedCrossRefGoogle Scholar
  35. Editorial (1990) Cystic fibrosis: prospects for screening and therapy. Lancet 335: 79–80CrossRefGoogle Scholar
  36. Epstein CJ, Golbus MS (1978) The prenatal diagnosis of genetic disorders. Annu Rev Med 29: 117–128PubMedCrossRefGoogle Scholar
  37. Fletcher JC (1990) Evolution of ethical debate about human gene therapy. Hum Gene Ther 1: 55–68PubMedCrossRefGoogle Scholar
  38. 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: 638–640PubMedCrossRefGoogle Scholar
  39. Friedmann T (1989) Progress toward human gene therapy. Science 244: 1275–1281PubMedCrossRefGoogle Scholar
  40. Friedmann T (1990) Opinion: the human genome project. Some implications of extensive “reverse genetic” medicine. Am J Hum Genet 46: 407–414PubMedGoogle Scholar
  41. 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, WashingtonGoogle Scholar
  42. Galjaard H (1980) Genetic metabolic diseases. Early diagnosis and prenatal analysis. Elsevier/North-Holland, AmsterdamGoogle Scholar
  43. Gilbert F (1990) Is population screening for cystic fibrosis appropriate now? Am J Hum Genet 46: 395–396Google Scholar
  44. Goldberger JD, Golbus MS (1988) Chorionic villus sampling. Adv Hum Genet 17: 1–25CrossRefGoogle Scholar
  45. Gordon JW (1990) Micromanipulation of embryos and germ cells: an approach to gene therapy?. Am J Med Genet 35: 206–214PubMedCrossRefGoogle Scholar
  46. Gregg RG, Smithies O (1986) Targeted modification of human chromosomal genes. Cold Spring Harbor Symp Quant Biol 51: 1093–1099PubMedGoogle Scholar
  47. Hall A (1986) Oncogenes. Genet Eng 5: 61–116Google Scholar
  48. Hammer RE, Palmiter RD, Bringster RL (1984) Partial correction of murine hereditary growth disorder by germ-line incorporation of a new gene. Nature 371: 15–67Google Scholar
  49. Handyside AH, Kontogianni EH, Hardy K, Winston RML (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768–770PubMedCrossRefGoogle Scholar
  50. Hansman M (1979) Sonar in prenatal diagnosis. In: Murken JD, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 155–183Google Scholar
  51. Harper PS, Clarke A (1990) Should we test children for “adult” genetic disease? Lancet 335: 1205–1206PubMedCrossRefGoogle Scholar
  52. 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: 563–611PubMedCrossRefGoogle Scholar
  53. Harris H (1975) The principles of biochemical genetics, 2nd edn. North-Holland, AmsterdamGoogle Scholar
  54. Holding G, Monk M (1989) Diagnosis of beta-thalassemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet 2; 532–535PubMedCrossRefGoogle Scholar
  55. 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
  56. Human Gene Mapping 10 (1989) New Haven Conference. 10th International Workshop on Human Gene Mapping. Cytogenet. Cell Genet. 51, vols 1–4Google Scholar
  57. Jouppila P (1971) Ultrasound in the diagnosis of early pregnancy and its complications. Acta Obst et Gynecol Scand [Suppl] 15Google Scholar
  58. Kazazian HH Jr., Antonarakis SE (1988) The varieties of mutation. Progr Med Genet [New Ser] 7: 43–67Google Scholar
  59. Kazy Z, Rozovsky IS, Bakharev VA (1982) Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders. Prenatal Diagn 2: 39–45CrossRefGoogle Scholar
  60. Kerem B-S, Rommens JM, Buchanan JA, et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073–1080PubMedCrossRefGoogle Scholar
  61. Klein G (1987) The approaching era of the tumor suppressor genes. Science 238: 1539–1545PubMedCrossRefGoogle Scholar
  62. Knudson AG (1986) Hereditary cancer, oncogenes and antioncogenes. Cancer Res 45: 1437–1443Google Scholar
  63. Lederberg J (1966) Experimental genetics and human evolution. The American Naturalist 100: 519–525, 1966CrossRefGoogle Scholar
  64. Ledley FD (1987) Somatic gene therapy for human disease: a problem of eugenics? Trends Genet 3: 112–115PubMedCrossRefGoogle Scholar
  65. Ledley FD, Grenett HE, et al. (1985) Gene transfer and expression of human phenylalanine hydroxilase. Science 228: 77–79PubMedCrossRefGoogle Scholar
  66. Martin JB (1987) Molecular genetics: applications to the clinical neurosciences. Science 238: 765–772PubMedCrossRefGoogle Scholar
  67. 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: 1372–1378PubMedCrossRefGoogle Scholar
  68. 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: 13–66CrossRefGoogle Scholar
  69. McCormick RA (1981) How brave a new world? Dilemmas in bioethics. Doubleday, Garden CityGoogle Scholar
  70. McKusick VA (1988) Mendelian inheritance in Man, 8th edn. Johns Hopkins University Press, BaltimoreGoogle Scholar
  71. Miller AD, Palmer TD, Hock RA (1986) Transfer of genes into human somatic cells using retrovirus vectors. Cold Spring Harbor Symp. Quant. Biol. 51: 1013–1019PubMedGoogle Scholar
  72. Monk M, Holding C (1990) Amplification of a beta-haemoglobin sequence in individual human oocytes and polar bodies. Lancet 335: 985–988PubMedCrossRefGoogle Scholar
  73. 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: 423–425PubMedCrossRefGoogle Scholar
  74. Motulsky AG (1968) Human genetics, society and medicine. J Hered 59: 329–342PubMedGoogle Scholar
  75. Motulsky AG (1983) Impact of genetic manipulation on Society and Medicine. Science 219: 135–140PubMedCrossRefGoogle Scholar
  76. 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 521–535Google Scholar
  77. 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, 88–93Google Scholar
  78. 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 107–115Google Scholar
  79. Murray TH (1990) Human gene therapy, the public, and public policy. Hum Gene Ther 1: 49–54PubMedCrossRefGoogle Scholar
  80. Nelson DL, Chang SMV et al. (1986) Gene replacement therapy for inborn errors of purine metabolism. Cold Spring Harbor Symp Quant Biol 51: 1065–1071PubMedGoogle Scholar
  81. Orkin SH, Williams DA (1988) Gene therapy of somatic cells: status and prospects. Progr Med Genet [New Ser] 7: 130–142Google Scholar
  82. Parkman R (1986) The application of bone marrow transplantation to the treatment of genetic diseases. Science 232: 1373–1378PubMedCrossRefGoogle Scholar
  83. Phillips JA III (1988) Clinical applications of gene mapping and diagnosis. Progr Med Genet [New Ser] 7: 68–99Google Scholar
  84. 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, WashingtonGoogle Scholar
  85. 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 193–201Google Scholar
  86. Rifkin J (1983) Algeny. Viking, New YorkGoogle Scholar
  87. Riordan JR, Rommens JM, Kerem B-S, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066–1073PubMedCrossRefGoogle Scholar
  88. Roberts L (1990) To test or not to test? Science 247: 17–18PubMedCrossRefGoogle Scholar
  89. Rommens JM, Iannuzzi MC, Kerem B-S, et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059–1065PubMedCrossRefGoogle Scholar
  90. Schmidtke J (1986) Diagnosis of genetic disease using recombinant DNA. Hum Genet 73: 1–11PubMedCrossRefGoogle Scholar
  91. Scrimgeour JB (1973) Amniocentesis: technique and complications. In: Emery AEH (ed) Antenatal diagnosis of genetic disease. Livingstone, Edinburgh pp 11–39Google Scholar
  92. Scrimgeour JB (1979) Fetoscopy. The future. In: Murken JD, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 202–205Google Scholar
  93. Seiden RF, Skoskiewicz MJ, et al. (1987) Implantation of genetically engineered fibroblasts into mice: implications for gene therapy. Science 236: 714–718CrossRefGoogle Scholar
  94. Simoni G, Brambati B, Danesino G, et al. (1984) Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet 66: 252–259PubMedCrossRefGoogle Scholar
  95. Sonneborn TM (ed) (1965) The control of human heredity and evolution. McMillan, New YorkGoogle Scholar
  96. 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: 1041–1046PubMedGoogle Scholar
  97. Stanbury JB, Wyngaarden JB, Fredrickson DS (1983) The Metabolic bases of inherited disease, 4th edn. McGraw-Hill, New YorkGoogle Scholar
  98. Super M, Schwarz MJ, Sardhavalla IB (1990) CF screening. Nature 344: 113–114PubMedCrossRefGoogle Scholar
  99. Thomas KR, Capecchi MR (1986) Targeting of genes to specific sites in the mammalian genome. Cold Spring Harbor Symp Quant Biol 51: 1101–1113PubMedGoogle Scholar
  100. Varmus HE (1984) The molecular genetics of cellular oncogenes. Annu Rev Genet 18: 553–612PubMedCrossRefGoogle Scholar
  101. 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: 1542–1544CrossRefGoogle Scholar
  102. 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 92–106Google Scholar
  103. White R, Lalouel J-M (1988) Sets of linked genetic markers for human chromosomes. Annu Rev Genet 22: 259–279PubMedCrossRefGoogle Scholar
  104. 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: 7842–7849PubMedGoogle Scholar
  105. World Council of Churches (1982) Manipulating life: ethical issues in genetic engineering. Church and Society, World Council of Churches, GenevaGoogle Scholar
  106. World Health Organization (1972) Genetic disorders: prevention, treatment and rehabilitation. WHO Tech Rep Ser 497Google Scholar

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