Genetic Counseling

Prelude to Prenatal Diagnosis
  • Aubrey Milunsky


“Genetic counseling” (a term first used by Reed in 1947) (Reed, 1974) is a communication process concerning the occurrence and the risks of recurrence of genetic disorders within a family (Bergsma et al., 1973; Fraser, 1974; Milunsky, 1975; Murphy and Chase, 1975; Stevenson and Davison, 1976; Lubs and de la Cruz, 1977). The essential aim of such counseling is to provide the counselee(s) with as complete an understanding as possible of all the implications of the genetic disorder in question as well as a clear perception of all the possible options. The counseling process is also aimed at helping families cope with their problems and assisting and supporting them in their decision making. Shaw (1977) has summarized the objectives of genetic counseling (Table I).


Genetic Counseling Muscular Dystrophy Prenatal Diagnosis Counseling Process Prospective Parent 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Alker, H. A., 1969, Rationality and achievement: A comparison of the Atkinson-McClelland and Kogan-Wallach formulations, 7. Perspect. 37:207.Google Scholar
  2. Antley, R. M., 1976, Variables in the outcome of genetic counseling, Soc. Biol. 23:108.PubMedGoogle Scholar
  3. Antley, R. M., and Hartlage, L. C. 1976, Psychological responses to genetic counseling for Down’s syndrome, Clin. Genet. 9:257.PubMedCrossRefGoogle Scholar
  4. Bergsma, D., Neel, J. V., and Paul, N. W., 1973, Contemporary Genetic Counseling, Birth Defects Orig. Art. Ser. 9(4).Google Scholar
  5. Briard, M.-L., Frezal, J., and Kaplan, J., 1977a, Genetic counselling (results of 10 years experience) 2. Requests, J. Genet. Hum. 25:25.PubMedGoogle Scholar
  6. Briard, M.-L., Kaplan, J., and Frezal, J., 1977b, Le conseil genetique (resultats de dix annees d’experience). III. Evaluation du risque, J. Genet. Hum. 25:11.Google Scholar
  7. Carter, C. O., 1969, Genetic counselling, Med. Clin. N. Am. 53:991.PubMedGoogle Scholar
  8. Carter, C. O., Roberts, J. A., Evans, K. A., et al., 1971, Genetic clinic: A follow-up. Lancet 1:281.PubMedCrossRefGoogle Scholar
  9. Chandler, S., and Rabow, J., 1969, Ethnicity and acquaintance as variables in risk-taking, J. Soc. Psychol. 77:221.PubMedCrossRefGoogle Scholar
  10. Childs, B., 1975, Approaches to genetic counseling, Aazaz. N.Y. Acad. Sci. 240:132.CrossRefGoogle Scholar
  11. Clark Eraser, F., and Pressor, C., 1977, Attitudes of counselors in relation to prenatal sex determination simply for choice of sex, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 109, Raven Press, New York.Google Scholar
  12. Clow, C. L., Eraser, C., Laberge, C., et al., 1973, On the application of knowledge to the patient with genetic disease, in: Progress in Medical Genetics, Vol. 9 (A. G. Steinberg and A. G. Beam, eds.), p. 159, Grune and Stratton, New York.Google Scholar
  13. Committee on Genetic Counseling, Report to the American Society of Human Genetics, May 15, 1973.Google Scholar
  14. Elias, S., and Mahoney, N. J., 1976, Prenatal diagnosis of trisomy 13 with decision not to terminate pregnancy. Obstet. Gynecol. 47:75s.Google Scholar
  15. Emery, A. E. H., 1975, Genetic counselling, Med. J. 3:219.CrossRefGoogle Scholar
  16. Emery, A. E. H., 1977, Changing patterns in a genetic counseling clinic, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 113, Raven Press, New York.Google Scholar
  17. Emery, A. E. H., Watt, M. S., and Clark, E. R., 1972, The effects of genetic counselling in Duchenne muscular dystrophy, Clin. Genet. 3:147.PubMedCrossRefGoogle Scholar
  18. Emery, A. E. H., Watt, M. S., and Clark, E., 1973, Social effects of genetic counselling, Br. Med. J. 219:724.CrossRefGoogle Scholar
  19. Epstein, C. J., 1973, Who should do genetic counseling, and under what circumstances? Birth Defects Orig. Art. Ser. 9:39.Google Scholar
  20. Eraser, F. C., 1974, Genetic counseling, Am. J. Hum. Genet. 26:636.Google Scholar
  21. Gold, R. J. M., Maag, U. R., Neal, J. L., et al., 1974, The use of biochemical data in screening for mutant alleles and in genetic counselling, Ann. Hum. Genet. 37:315.PubMedCrossRefGoogle Scholar
  22. Cordis, L., Childs, B., and Roseman, M. G., 1977, Obstetricians’ attitudes toward genetic screening, Am. J. Public Health 67:469.CrossRefGoogle Scholar
  23. Home, W. C., 1970, Group influence on ethical risk-taking. The inadequacy of 2 hypotheses, J. Soc. Psychol. 80:237.CrossRefGoogle Scholar
  24. Hsia, Y. E., 1974, Choosing my children,s genes: Genetic counseling, in: Genetic Responsibility, On Choosing our Children’s Genes (M. Lipkin, Jr., and P. T. Rowley, eds.), p. 43, Plenum, New York.Google Scholar
  25. Hsia, Y. E., 1977, Approaches to the appraisal of genetic counseling, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 53, Raven Press, New York.Google Scholar
  26. Hsia, Y. E., Bratu, M., Herbordt, A., 1971, Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 48:237.PubMedGoogle Scholar
  27. Klein, D., and Wyss, D., 1977, Retrospective and follow-up study of approximately 1000 genetic consultations, J. Genet. Hum. 25:47.PubMedGoogle Scholar
  28. Koch, G., 1974, Genetische Beratung [genetic counseling]—Pränatale Diagnostik [prenatal didignosh], Bibliograph. Genet. Med. 3:1.Google Scholar
  29. Leonard, C. O., Chase, G. A., and Childs, B., 1972, Genetic counseling: A consumers’ view, N. Engl. J. Med. 287:433.PubMedCrossRefGoogle Scholar
  30. Lubs, H. A., and de la Cruz, F., 1977, Genetic Counseling, Raven Press, New York.Google Scholar
  31. MacGillivray, L, Nylander, P. P. S., and Corney, G., 1975, Human Multiple Reproduction, Saunders, London.Google Scholar
  32. Milunsky, A., 1973, The Prenatal Diagnosis of Hereditary Disorders, Thomas, Springfield, 111.Google Scholar
  33. Milunsky, A., 1975, The Prevention of Genetic Disease and Mental Retardation, Saunders, Philadelphia.Google Scholar
  34. Milunsky, A., 1977, Know Your Genes, Houghton-Mifflin, Boston.Google Scholar
  35. Milunsky, A., and Annas, G. J., 1976, Genetics and the Law, Plenum, New York.Google Scholar
  36. Moran, E., 1970, Clinical and social aspects of risk-taking, Proc. R. Soc. Med. 63:1273.PubMedGoogle Scholar
  37. Morris, J., and Laurence, K. M., 1976, The effectiveness of genetic counseling for neural-tube malformations, Dev. Med. Child Neurol. 18:157.Google Scholar
  38. Murphy, E. A., 1968, The rationale of genetic counseling, J. Pediatr. 72:121.PubMedCrossRefGoogle Scholar
  39. Murphy, E. A., and Chase, G. A., 1975, Principles of Genetic Counseling, Yearbook Medical Publishers, Chicago.Google Scholar
  40. National Association for Mental Health, 1971, The birth of an abnormal child: Telling the parents. Lancet 2:1075.Google Scholar
  41. O’Brien, J. S., Okada, S., Chen, A., et al., 1970, Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay, N. Engl. J. Med. 283:15.PubMedCrossRefGoogle Scholar
  42. Papp, Z., 1976, Prenatal genetic diagnosis. Bibliography, 1955–75, The Human Genetics Laboratory, Debrecen, Hungary.Google Scholar
  43. Pearn, J. H., 1972, Patients’ subjective interpretation of risks offered in genetic counselling, J. Med. Genet. 10:129.CrossRefGoogle Scholar
  44. Reed, S. C., 1974, A short history of genetic counseling, Soc. Biol. 21:332.PubMedGoogle Scholar
  45. Rettig, S., 1966, Group discussion and predicted ethical risk-taking, J. Perspect. Soc. Psychol. 3:629.CrossRefGoogle Scholar
  46. Reynolds, B. D., Puck, M. H., and Robinson, A., 1974, Genetic counseling—An appraisal, Clin. Genet. 5:177.PubMedCrossRefGoogle Scholar
  47. Roberts, J. A. F., 1962, Genetic prognosis, Br. Med. J. 1:587.PubMedCrossRefGoogle Scholar
  48. Shaw, M. W., 1974, Genetic counseling. Science 184:751.PubMedCrossRefGoogle Scholar
  49. Shaw, M. W., 1977, Review of published studies of genetic counseling: A critique, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 35, Raven Press, New York.Google Scholar
  50. Sibinga, M. S., and Friedman, C. J., 1971, Complexities of parental understanding for phenylketonuria, Pediatrics 48:216.PubMedGoogle Scholar
  51. Sly, W. S., 1973, What is genetic counseling? Birth Defects Orig. Art. Ser. 9:5.PubMedGoogle Scholar
  52. Smith, C., Holloways, S., and Emery, A. E. H., 1971, Individuals at risk in families with genetic disease, J. Med. Genet. 8:453.PubMedCrossRefGoogle Scholar
  53. Sorenson, J. R., and Culbert, A. J., 1977, Counselors and counseling orientations—Unexamined topics in evaluation, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 131, Raven Press, New York.Google Scholar
  54. Steiner, J., 1970, An experimental study of risk-taking, Proc. R. Soc. Med. 63:1271.PubMedGoogle Scholar
  55. Stevenson, A. C., and Davison, B. C. C., 1976, Genetic Counseling, 2nd ed., Lippincott, Philadelphia.Google Scholar
  56. Taylor, K., and Merrill, R. E., 1970, Progress in the delivery of health care: Genetic counseling, Am. J. Dis. Child. 119:209.PubMedGoogle Scholar
  57. Worid Health Organization Expert Committee, 1969, Genetic counseling, WHO Tech. Rep. 416:1.Google Scholar

Copyright information

© Aubrey Milunsky 1979

Authors and Affiliations

  • Aubrey Milunsky
    • 1
    • 2
    • 3
  1. 1.Department of PediatricsHarvard Medical SchoolBostonUSA
  2. 2.Genetics DivisionEunice Kennedy Shriver CenterWalthamUSA
  3. 3.Children’s ServiceMassachusetts General HospitalBostonUSA

Personalised recommendations