Standard Article

You have free access to this content

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


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.


  • multiplex screening;
  • genome-wide association;
  • consent;
  • broad consent;
  • healthcare;
  • genetic