Informed Consent and Multiplex Genetic Screening


Recent advances in genome‐wide genotyping together with new technologies provide unprecedented opportunities for multiplex screening. These advances provide insight into diseases, hold promises to improve clinical practices to address lifestyle changes, inform reproductive decisions, identify newborns at risk as well as possibly move genetic screening out of the realm of the clinics into direct‐to‐consumer market forces. Advances in multiplex genetic screening raise ethical issues with regard to consent. Some of the concerns that may arise include how to: manage the incidental and excess information; integrate information about susceptibility testing into the clinic, given the complexity of the information; address the psychosocial impact and educate health professionals about the meaning of the results. If multiplex screening is used in genomic research and made available in the clinic, each ethical issue deserves consideration in the consent process and should be discussed.

Key concepts:

  • Become aware of new technologies that are being used to expand screening.

  • Understand the distinction between testing and screening.

  • Describe a spectrum of social, ethical issues that are involved in multiplex testing and screening.

  • Know why multiplex screening/testing requires informed consent.

  • Familiarize the reader with the concept of broad consent.

  • Identify the emerging issues relevant to multiplex screening/testing.

  • Consider whether multiplex screening/testing will shift the clinical approach towards a ‘direct‐to‐consumer’ model.

Keywords: multiplex screening; genome‐wide association; consent; broad consent; healthcare; genetic


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: 15–21.

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: e693–e704.

Baruch S, Adamson GD, Cohen J et al. (2005) Genetic testing of embryos: a critical need for data. Reproductive Biomedicine Online 11: 667–670.

Baruch S, Kaufman DJ and Hudson KL (2008) Preimplantation genetic screening: a survey of in vitro fertilization clinics. Genetic Medicine 10: 685–690.

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: 106–114.

Bates BR (2005) Public culture and public understanding of genetics: a focus group study. Public Understanding of Science 14: 47–65.

Bidoli E, Villalta D, Ethical Committee of Pordenone Hospital et al. (2007) Epidemiological and ethical aspects of multiplex autoantibody testing. Autoimmunity Reviews 6: 354–358.

Borry P and Howard H (2008) Direct to consumer genetic services: a look across the pond. American Journal of Bioethics 8: 14–16.

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: 275–280.

Caulfield T, McGuire AL, Cho M et al. (2008) Research ethics recommendations for whole‐genome research: consensus statement. PLoS Biology 6: 430–435.

Collins FW, Green ED, Guttmacher AE et al. (2003) A vision for the future of genomics research. Nature 422: 835–847.

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: 94–101.

Elias S and Annas G (1994) Generic consent for genetic screening. New England Journal of Medicine 330: 1611–1613.

Eng CM, Schechter C, Robinowitz J et al. (1997) Prenatal genetic carrier testing using triple disease screening. Journal of the American Medical Association 278: 1268–1272.

Green MJ and Botkin JR (2003) Genetic exceptionalism in medicine: clarifying the differences between genetic and nongenetic tests. Annals of Internal Medicine 138: 571–575.

Grody WW (2003) Molecular genetic risk screening. Annual Review of Medicine 54: 473–490.

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: 777–781.

Lango H and Weedon MN (2008) What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice? Journal of Internal Medicine 263: 16–27.

Lunshof JE, Chadwick R, Vorhaus DB et al. (2008) From genetic privacy to open consent. Nature Reviews. Genetics 9: 406–411.

Mascalzoni D, Hicks A, Pramstaller P et al. (2008) Informed consent in the genomics era. PLoS Medicine 5: 1302–1305.

McCabe LL and McCabe ER (2008) Expanded newborn screening: implications for genomic medicine. Annual Review of Medicine 59: 163–175.

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: 98–107.

Nyholt DR, Yu CE and Visscher PM (2009) On Jim Watson's APOE status: genetic information is hard to hide. European Journal of Human Genetics 17: 147–149.

Sadee W (2008) Drug therapy and personalized health care: pharmacogenomics in perspective. Pharmaceutical Research 25: 2713–2719.

Shakespeare T (2005) Review article: disability studies today and tomorrow. Sociology of Health and Illness 27: 138–148.

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: 626–631.

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: 29–35.

Wilcken B (2007) Recent advances in newborn screening. Journal of Inherited Metabolic Diseases 30: 129–133.

World Health Organization (2001) Review of Ethical Issues in Medical Genetics. Geneva, Switzerland: WHO.

Further Reading

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: 122–131.

Austoker J (1999) Gaining informed consent for screening. British Medical Journal 319: 722–723.

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: 1467–1474.

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: 1280–1288.

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. 167–179. St Louis, MO: Mosby.

Scriver CR (1996) Genetic screening, testing and treatment: how far can we go? Journal of Inherited Metabolic Diseases 19: 401–411.

Web Links


deCODE genetics

European Society of Human Genetics. Population Genetic Screening Programmes: Principles, Techniques, Practices and Policies.

Human Genetics Commission

Human Genetics Commission. Inside Information Balancing Interests in the Use of Personal Genetic Data, UK


Multiplex Initiative

National Coalition for Professional Education in Genetics

New York State Task Force on Life and the Law. Genetic Testing and Screening in the Age of Genomic Medicine.

Ontario Government. Ontario Report to Premiers: Genetics, Testing and Gene Patenting: Charting New Territory in Healthcare.

UK Biobank

World Health Organization Advisory Committee on Health Research. Genomics and World Health.

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How to Cite close
Avard, Denise, and Harmsen, Eef(Jan 2010) Informed Consent and Multiplex Genetic Screening. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005642.pub2]