The Clinical Application of Genome-Wide Sequencing for Monogenic Diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Journal of Medical Genetics, 431-437, August 2015

8 Pages Posted: 7 Aug 2015

See all articles by Kym Boycott

Kym Boycott

Children's Hospital of Eastern Ontario Research Institute (CHEO)

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute (CHEO)

Shelin Adam

University of British Columbia (UBC)

Francois Bernier

University of Calgary

Karen Chong

University of Toronto

Bridget Fernandez

Memorial University of Newfoundland (MNU)

Jan Friedman

University of British Columbia (UBC)

Michael Geraghty

Children's Hospital of Eastern Ontario Research Institute (CHEO)

Stacey Hume

University of Alberta

Bartha Knoppers

McGill University

Anne-Marie Laberge

University of Montreal

Jacek Majewski

McGill University

Roberto Mendoza-Londono

University of Toronto

M Stephen Meyn

University of Toronto

Jacques Michaud

University of Montreal

Tanya Nelson

University of British Columbia (UBC)

Julie Richer

Children's Hospital of Eastern Ontario Research Institute (CHEO)

Bekim Sadikovic

Western University

David Skidmore

Dalhousie University

Tracy Stockley

University of Toronto - University Health Network

Sherry Taylor

University of Alberta

Clara Karnebeek

University of British Columbia (UBC)

Ma'n H. Zawati

McGill University - Centre of Genomics and Policy

Julie Lauzon

University of Calgary

Christine Armour

Children's Hospital of Eastern Ontario Research Institute (CHEO)

Date Written: May 7, 2015

Abstract

Purpose and scope: The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counselors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals.

Methods of statement development: Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counselors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada.

Results and conclusions: Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes other than those linked to the primary indication; and (3) clinicians should provide genetic counseling and obtain informed consent prior to undertaking clinical genome-wide sequencing. Counseling should include discussion of the limitations of testing, likelihood and implications of diagnosis and incidental findings, and the potential need for further analysis to facilitate clinical interpretation, including studies performed in a research setting. These recommendations will be routinely re- evaluated as knowledge of diagnostic and clinical utility of clinical genome-wide sequencing improves. While the document was developed to direct practice in Canada, the applicability of the statement is broader and will be of interest to clinicians and health jurisdictions internationally.

Keywords: Canadian Healthcare System, Genome Wide Sequencing, Position Statement, Return of Results, Monogenic Diseases

Suggested Citation

Boycott, Kym and Hartley, Taila and Adam, Shelin and Bernier, Francois and Chong, Karen and Fernandez, Bridget and Friedman, Jan and Geraghty, Michael and Hume, Stacey and Knoppers, Bartha and Laberge, Anne-Marie and Majewski, Jacek and Mendoza-Londono, Roberto and Meyn, M Stephen and Michaud, Jacques and Nelson, Tanya and Richer, Julie and Sadikovic, Bekim and Skidmore, David and Stockley, Tracy and Taylor, Sherry and Karnebeek, Clara and Zawati, Ma'n H. and Lauzon, Julie and Armour, Christine, The Clinical Application of Genome-Wide Sequencing for Monogenic Diseases in Canada: Position Statement of the Canadian College of Medical Geneticists (May 7, 2015). Journal of Medical Genetics, 431-437, August 2015, Available at SSRN: https://ssrn.com/abstract=2640196

Kym Boycott

Children's Hospital of Eastern Ontario Research Institute (CHEO) ( email )

401 Smyth Road
Ottawa, Ontario K1H 8L1
Canada

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute (CHEO) ( email )

401 Smyth Road
Ottawa, Ontario K1H 8L1
Canada

Shelin Adam

University of British Columbia (UBC) ( email )

2329 West Mall
Vancouver, British Columbia BC V6T 1Z4
Canada

Francois Bernier

University of Calgary ( email )

University Drive
Calgary, Alberta T2N 1N4
Canada

Karen Chong

University of Toronto ( email )

Toronto, Ontario M5S 3G8
Canada

Bridget Fernandez

Memorial University of Newfoundland (MNU) ( email )

Faculty of Education
St. John's, Newfoundland A1B 3X5 A1C 5V3
Canada

Jan Friedman

University of British Columbia (UBC) ( email )

2329 West Mall
Vancouver, British Columbia BC V6T 1Z4
Canada

Michael Geraghty

Children's Hospital of Eastern Ontario Research Institute (CHEO) ( email )

401 Smyth Road
Ottawa, Ontario K1H 8L1
Canada

Stacey Hume

University of Alberta ( email )

Edmonton, Alberta T6G 2R3
Canada

Bartha Knoppers

McGill University ( email )

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

Anne-Marie Laberge

University of Montreal ( email )

C.P. 6128 succursale Centre-ville
Montreal, Quebec H3C 3J7
Canada

Jacek Majewski

McGill University ( email )

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

Roberto Mendoza-Londono

University of Toronto ( email )

Toronto, Ontario M5S 3G8
Canada

M Stephen Meyn

University of Toronto ( email )

Toronto, Ontario M5S 3G8
Canada

Jacques Michaud

University of Montreal ( email )

C.P. 6128 succursale Centre-ville
Montreal, Quebec H3C 3J7
Canada

Tanya Nelson

University of British Columbia (UBC) ( email )

2329 West Mall
Vancouver, British Columbia BC V6T 1Z4
Canada

Julie Richer

Children's Hospital of Eastern Ontario Research Institute (CHEO) ( email )

401 Smyth Road
Ottawa, Ontario K1H 8L1
Canada

Bekim Sadikovic

Western University ( email )

1151 Richmond St
London, Ontario N6A 3K7
Canada

David Skidmore

Dalhousie University ( email )

6225 University Avenue
Halifax, Nova Scotia B3H 4H7
Canada

Tracy Stockley

University of Toronto - University Health Network ( email )

101 College Street
Toronto, ON M5G 1L7 ON M5G 1L7
Canada

Sherry Taylor

University of Alberta ( email )

Edmonton, Alberta T6G 2R3
Canada

Clara Karnebeek

University of British Columbia (UBC) ( email )

2329 West Mall
Vancouver, British Columbia BC V6T 1Z4
Canada

Ma'n H. Zawati

McGill University - Centre of Genomics and Policy ( email )

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

Julie Lauzon

University of Calgary ( email )

University Drive
Calgary, Alberta T2N 1N4
Canada

Christine Armour (Contact Author)

Children's Hospital of Eastern Ontario Research Institute (CHEO) ( email )

401 Smyth Road
Ottawa, Ontario K1H 8L1
Canada

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