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Informed Consent and Multiplex Genetic Screening

  1. Denise Avard1,
  2. Eef Harmsen2

Published Online: 15 JAN 2010

DOI: 10.1002/9780470015902.a0005642.pub2



How to Cite

Avard, D. and Harmsen, E. 2010. Informed Consent and Multiplex Genetic Screening. eLS. .

Author Information

  1. 1

    McGill University, Québec, Canada

  2. 2

    Genome Quebec, Montréal, Québec, Canada

Publication History

  1. Published Online: 15 JAN 2010


  1. References
  2. Further Reading
  3. Web Links
  • Advisory Committee on Genetic Testing (1998) Advice to research ethics committee: points to consider in ethical review of medical research involving genetic testing.
  • American Medical Association (1998) Multiplex genetic testing. Hastings Center Report 28: 1521.
  • Andrews LB, Fullerton JE, Holtzman NA and Motulsky AG (1994) Assessing Genetic Risks: Implications for Health and Social Policy. Washington DC: National Academy Press.
  • Bailey DB, Skinner D, Davis AM et al. (2008) Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 121: e693e704.
  • Baruch S, Adamson GD, Cohen J et al. (2005) Genetic testing of embryos: a critical need for data. Reproductive Biomedicine Online 11: 667670.
  • Baruch S, Kaufman DJ and Hudson KL (2008) Preimplantation genetic screening: a survey of in vitro fertilization clinics. Genetic Medicine 10: 685690.
  • Bassett K, Lee PM, Green CJ et al. (2004) Improving population health or the population itself? Health technology assessment and our genetic future. International Journal of Technology Assessment in Health Care 20: 106114.
  • Bates BR (2005) Public culture and public understanding of genetics: a focus group study. Public Understanding of Science 14: 4765.
  • Bidoli E, Villalta D, Ethical Committee of Pordenone Hospital et al. (2007) Epidemiological and ethical aspects of multiplex autoantibody testing. Autoimmunity Reviews 6: 354358.
  • Borry P and Howard H (2008) Direct to consumer genetic services: a look across the pond. American Journal of Bioethics 8: 1416.
  • Botkin JR et al. (2005) Comment on: A Report of the American College of Medical Genetics. Report titled Newborn Screening: Toward a Uniform Screening Panel and System, Submitted as public comment. Available for inspection at Maternal and Child Health Bureau/Health Resources and Services Administration Office, Rockville MD.
  • British Medical Association (1998) Human Genetics: Choice and Responsibility. Oxford, UK: Oxford University Press.
  • Carroll AM and Coleman CH (2001) Closing the gaps in genetics legislation and policy: a report by the New York state task force on life and the law. Genetic Testing 5: 275280.
  • Caulfield T, McGuire AL, Cho M et al. (2008) Research ethics recommendations for whole-genome research: consensus statement. PLoS Biology 6: 430435.
  • Collins FW, Green ED, Guttmacher AE et al. (2003) A vision for the future of genomics research. Nature 422: 835847.
  • Council for International Organizations of Medical Sciences (2008) International Ethical Guidelines for Epidemiological Research pp. 1–113.
  • Dickens BM (1994) Legal issues in predictive genetic testing programs. Alzheimer Disease and Associated Disorders 8: 94101.
  • Elias S and Annas G (1994) Generic consent for genetic screening. New England Journal of Medicine 330: 16111613.
  • Eng CM, Schechter C, Robinowitz J et al. (1997) Prenatal genetic carrier testing using triple disease screening. Journal of the American Medical Association 278: 12681272.
  • Green MJ and Botkin JR (2003) Genetic exceptionalism in medicine: clarifying the differences between genetic and nongenetic tests. Annals of Internal Medicine 138: 571575.
  • Grody WW (2003) Molecular genetic risk screening. Annual Review of Medicine 54: 473490.
  • Kronn D, Jansen J and Ostrer H (1998) Carrier screening for cystic fibrosis, Gaucher disease, and Tay–Sachs disease in the Ashkenazi Jewish population. Archives of Internal Medicine 158: 777781.
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  • Lunshof JE, Chadwick R, Vorhaus DB et al. (2008) From genetic privacy to open consent. Nature Reviews. Genetics 9: 406411.
  • Mascalzoni D, Hicks A, Pramstaller P et al. (2008) Informed consent in the genomics era. PLoS Medicine 5: 13021305.
  • McCabe LL and McCabe ER (2008) Expanded newborn screening: implications for genomic medicine. Annual Review of Medicine 59: 163175.
  • National Human Genome Research Institute (2008) Applying Genomics to Clinical Problems-Diagnostics, Preventive Medicine, Pharmacogenomics: A White Paper. Bethesda, MD: The National Human Genome Research Institute, National Institutes of Health.
  • Nicolas P (2009) Ethical and juridical issues of genetic testing: a review of the international regulation. Critical Reviews in Oncology/Hematology 69: 98107.
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  • Tabor HK and Cho MK (2007) Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research. Genetics in Medicine 9: 626631.
  • The President's Council on Bioethics (2008) The Changing Moral Focus of Newborn Screening: An Ethical Analysis. The President's Council on Bioethics, Washington DC.
  • Wertz DC and Knoppers BM (2002) Serious genetic disorders: can or should they be defined? American Journal of Medical Genetics 108: 2935.
  • Wilcken B (2007) Recent advances in newborn screening. Journal of Inherited Metabolic Diseases 30: 129133.
  • World Health Organization (2001) Review of Ethical Issues in Medical Genetics. Geneva, Switzerland: WHO.

Further Reading

  1. References
  2. Further Reading
  3. Web Links
  • Atkinson K, Zuckerman B, Sharfstein JM et al. (2001) A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Reports 116: 122131.
  • Austoker J (1999) Gaining informed consent for screening. British Medical Journal 319: 722723.
  • Geller G (1997) Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent. Journal of the American Medical Association 277: 14671474.
  • Hiller EH, Landenburger G and Natowicz MR (1997) Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. American Journal of Public Health 87: 12801288.
  • Kent A (2001) Putting the genetics genie back into its bottle. British Medical Journal 322: 1070.
  • Ross LF (2001) Genetic services for children: who should consent? In: Mahowald MB, McKusick VA, Scheuerle AS and Aspinwall TJ (eds) Genetics in the Clinic: Clinical, Ethical, and Social Implications for Primary Care, pp. 167179. St Louis, MO: Mosby.
  • Scriver CR (1996) Genetic screening, testing and treatment: how far can we go? Journal of Inherited Metabolic Diseases 19: 401411.

Web Links

  1. References
  2. Further Reading
  3. Web Links