Genetic Counseling

  • Jennifer M. Farmer


Genetic counseling is a relatively new and rapidly evolving healthcare service that is increasing in demand as we enter the new era of genomic medicine. Genetic counseling evolved as a combination of disciplines, medical genetics and counseling theory. The original definition of genetic counseling focused on communicating medical information and inheritance and recurrence risk to patients, along with presenting options for responding to the risk in a nondirective manner and helping patients adjust to their conditions. 1 As the practice of genetic counseling has grown over the past 30 years, so have the goals and scope of practice.


Genetic Testing Genetic Counseling Huntington Disease Preimplantation Genetic Diagnosis Genomic Medicine 
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  1. 1.
    Fraser FC. Current issues in medical genetics: genetic counseling. Am J Hum Genet. 1974;26:636–659.PubMedGoogle Scholar
  2. 2.
    Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA. 2001;285:540–544.PubMedCrossRefGoogle Scholar
  3. 3.
    Shulman LP, Elias S. Amniocentesis and chorionic villus sampling in fetal medicine. West J Med. 1993;159(special issue):260–268.PubMedGoogle Scholar
  4. 4.
    Biesecker BB, Marteau TM. The future of genetic counseling: an international perspective. Nat Genet. 1999;22:133–137.CrossRefGoogle Scholar
  5. 5.
    National Institutes of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis. Genetic testing for cystic fibrosis. Arch Intern Med. 1999;159:1529–1539.CrossRefGoogle Scholar
  6. 6.
    Grody WW, Cutting GR, Klinger KW, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3:149–154.PubMedCrossRefGoogle Scholar
  7. 7.
    Black SH. Preimplantation genetic diagnosis. Curr Opin Pediatr. 1994;6:712–716.PubMedCrossRefGoogle Scholar
  8. 8.
    Kanavakis E, Traeger-Synodinos J. Preimplantation genetic diagnosis in clinical practice. J Med Genet. 2002;39:6–11.PubMedCrossRefGoogle Scholar
  9. 9.
    Burke W. Genomic medicine: genetic testing. NEngl J Med. 2002;347:1867–1875.CrossRefGoogle Scholar
  10. 10.
    Weil J. Genetic counseling in the era of genomic medicine: as we move towards personalized medicine, it becomes more important to help patients understand genetic tests and make complex decisions about their health. EMBO Rep. 2002;3:590–593.PubMedCrossRefGoogle Scholar
  11. 11.
    Walker AP. The practice of genetic counseling. In: Baker DL, Schulette JL, Uhlmann WR, eds. A Guide to Genetic Counseling. New York: Wiley-Liss; 1998:1–20.Google Scholar
  12. 12.
    International Huntington Association and World Federation of Neurology. Guidelines for the molecular genetic predictive test in Huntington’s disease. J Med Genet. 1994;31:555–559.CrossRefGoogle Scholar
  13. 13.
    American Society of Clinical Oncology (ASCO). Policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003;21:2397–2406.CrossRefGoogle Scholar
  14. 14.
    McKinnon WC, Baty BJ, Bennett RL, et al. Predisposition genetic testing for late-onset disorders in adults: a position paper of the National Society of Genetic Counselors. JAMA. 1997;278:1217–1220.PubMedCrossRefGoogle Scholar
  15. 15.
    Almqvist EW, Bloch M, Brinkman R, Craufurd D, Hayden MR. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet. 1999;64:1289–1292.CrossRefGoogle Scholar
  16. 16.
    Andrews LB. Compromised consent: deficiencies in the consent process for genetic testing. JAMA. 1997;52:39–44.Google Scholar
  17. 17.
    Geller G, Botkin JR, Green MJ, et al. Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent. JAMA. 1997;277:1467–1474.PubMedCrossRefGoogle Scholar
  18. 18.
    Sharpe NF. Informed consent and Huntington disease: a model for communication. Am J Med Genet. 1994;50:239–246.PubMedCrossRefGoogle Scholar
  19. 19.
    American Society of Human Genetics (ASHG) Report. Statement on informed consent for genetic research. Am J Hum Genet. 1996;59:471–474.Google Scholar
  20. 20.
    American College of Medical Genetics/ASHG. Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995;57:1233–1241.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Jennifer M. Farmer
    • 1
  1. 1.Department of Pathology and Laboratory MedicineUniversity of PennsylvaniaPhiladelphiaUSA

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