Reporting Results from Whole-Genome and Whole-Exome Sequencing in Clinical Practice: A Proposal for Canada?

Journal of Medical Genetics, September 2013

4 Pages Posted: 24 Jul 2015 Last revised: 31 Jul 2015

See all articles by Ma'n H. Zawati

Ma'n H. Zawati

McGill University - Centre of Genomics and Policy

David Parry

McGill University - Centre for Genomics and Policy

Adrian Thorogood

Universite du Luxembourg - Luxembourg Centre for Systems Biomedicine

Minh Thu Nguyen

McGill University - Centre for Genomics and Policy

Kym Boycott

University of Ottawa

David Rosenblatt

McGill University

Bartha Knoppers

McGill University - Centre for Genomics and Policy

Date Written: September 27, 2013

Abstract

Purpose: This article proposes recommendations for the use of whole-genome and whole-exome (WGS/WES) sequencing in clinical practice, endorsed by the board of directors of the Canadian College of Medical Geneticists. The publication of statements and recommendations by several international and national organisations on clinical WGS/WES has prompted a need for Canadian specific guidance.

Methods: A multi-disciplinary group consisting of lawyers, ethicists, genetic researchers, and clinical geneticists was assembled to review existing guidelines on WGS/WES and identify provisions relevant to the Canadian context.

Results: Definitions were provided to orient the recommendations and to minimize confusion with other recommendations. Recommendations include the following: WGS/WES should be used in a judicious and cost-efficient manner; WGS/WES should be used to answer a clinical question; and physicians need to explain to adult patients the nature of the results that could arise, so as to allow them to make informed choices over whether to take the test and which results they wish to receive. Recommendations are also provided for WGS/WES in the pediatric context, and for when results implicate patients’ family members.

Conclusion: These recommendations are only a proposal to be developed into comprehensive Canadian based guidelines. They aim to promote discussion about the reporting of WGS/WES results, and to encourage the ethical implementation of these new technologies in the clinical setting.

Keywords: Canadian Healthcare System, Practice Guidelines, Professional Responsibility, Return of Results, Whole-Genome Sequencing

Suggested Citation

Zawati, Ma'n H. and Parry, David and Thorogood, Adrian and Nguyen, Minh Thu and Boycott, Kym and Rosenblatt, David and Knoppers, Bartha, Reporting Results from Whole-Genome and Whole-Exome Sequencing in Clinical Practice: A Proposal for Canada? (September 27, 2013). Journal of Medical Genetics, September 2013, Available at SSRN: https://ssrn.com/abstract=2634533

Ma'n H. Zawati (Contact Author)

McGill University - Centre of Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

David Parry

McGill University - Centre for Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

Adrian Thorogood

Universite du Luxembourg - Luxembourg Centre for Systems Biomedicine ( email )

2 Avenue de l'Université
Esch-sur-Alzette
Luxembourg

Minh Thu Nguyen

McGill University - Centre for Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

Kym Boycott

University of Ottawa ( email )

2292 Edwin Crescent
Ottawa, Ontario K2C 1H7
Canada

David Rosenblatt

McGill University ( email )

1001 Sherbrooke St. W
Montreal, Quebec H3A 1G5
Canada

Bartha Knoppers

McGill University - Centre for Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

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