I am a researcher genetic counsellor interested in the application of new genetic and genomic technocology. More specifically, I am interested in understanding the best ways to provide education, decision support and genetic counselling to families being offered genomic sequencing. Another area of my research is in helping clinicians to understand genomic testing and its implications.


The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Nick Dragojlovic, Alison M Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill C Mwenifumbo, Tanya N Nelson, Christèle du Souich, Jan M Friedman, Larry D Lynd
DOI: 10.1038/gim.2017.226

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Colin Wilbur, Sarah E. Buerki, Ilaria Guella, Eric B. Toyota, Daniel M. Evans, Marna B. McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Matthew J. Farrer, Mary B. Connolly, Michelle Demos
DOI: 10.1016/j.pediatrneurol.2017.06.003

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
American Journal of Medical Genetics Part A
My Linh Thibodeau, Colin H. Peters, Katelin N. Townsend, Yaoqing Shen, Glenda Hendson, Shelin Adam, Kathryn Selby, Patrick M. Macleod, Cynthia Gershome, Peter Ruben, Steven J. M. Jones, Jan M. Friedman, William T. Gibson, Gabriella A. Horvath, the FORGE Canada Consortium
DOI: 10.1002/ajmg.a.38400

Controversy and debate on clinical genomics sequencing—paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau
Journal of Clinical Epidemiology
Shelin Adam, Jan M. Friedman
DOI: 10.1016/j.jclinepi.2017.09.019

Controversy and debate on clinical genomics sequencing—paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Journal of Clinical Epidemiology
Shelin Adam, Jan M. Friedman
DOI: 10.1016/j.jclinepi.2017.08.020

De novoFGF12mutation in 2 patients with neonatal-onset epilepsy
Neurology Genetics
Ilaria Guella, Linda Huh, Marna B. McKenzie, Eric B. Toyota, E. Martina Bebin, Michelle L. Thompson, Gregory M. Cooper, Daniel M. Evans, Sarah E. Buerki, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Mary B. Connolly, Matthew J. Farrer, Michelle Demos
DOI: 10.1212/nxg.0000000000000120

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Martina A. Vortel, Shelin Adam, Ashley V. Port-Thompson, Jan M. Friedman, Stuart W. Grande, Patricia H. Birch
DOI: 10.1016/j.pec.2016.03.024

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Patricia Birch, S. Adam, N. Bansback, R. R. Coe, J. Hicklin, A. Lehman, K. C. Li, J. M. Friedman
DOI: 10.1007/s10897-016-9971-8

Parents’ Perspectives on Supporting Their Decision Making in Genome-Wide SequencingParents’ Perspective in Genome-Wide Sequencing
Journal of Nursing Scholarship
Karen C. Li, Patricia H. Birch, Bernard M. Garrett, Maura MacPhee, Shelin Adam, Jan M. Friedman
DOI: 10.1111/jnu.12207

Individual DNA samples and health information sold by 23andMe
Genetics in Medicine
Shelin Adam, Jan M. Friedman
DOI: 10.1038/gim.2015.82

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
Kym Boycott, Taila Hartley, Shelin Adam, Francois Bernier, Karen Chong, Bridget A Fernandez, Jan M Friedman, Michael T Geraghty, Stacey Hume, Bartha M Knoppers, Anne-Marie Laberge, Jacek Majewski, Roberto Mendoza-Londono, M Stephen Meyn, Jacques L Michaud, Tanya N Nelson, Julie Richer, Bekim Sadikovic, David L Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma'n H Zawati, Julie Lauzon, Christine M Armour
DOI: 10.1136/jmedgenet-2015-103144

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
The American Journal of Human Genetics
Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, Francois P. Bernier, Michael Brudno, Bartha Knoppers, Janet Marcadier, David Dyment, Shelin Adam, Dennis E. Bulman, Steve J.M. Jones, Denise Avard, Minh Thu Nguyen, Francois Rousseau, Christian Marshall, Richard F. Wintle, Yaoqing Shen, Stephen W. Scherer, Jan M. Friedman, Jacques L. Michaud, Kym M. Boycott
DOI: 10.1016/j.ajhg.2014.05.003

Genetic Diagnosis through Whole-Exome Sequencing
New England Journal of Medicine
DOI: 10.1056/nejmc1315908

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Orphanet Journal of Rare Diseases
Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman, the FORGE Canada Consortium
DOI: 10.1186/1750-1172-9-15

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard
Genetics in Medicine
Anne Townsend, Shelin Adam, Patricia H. Birch, Jan M. Friedman
DOI: 10.1038/gim.2013.105

Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing
European Journal of Human Genetics
Anne Townsend, Francois Rousseau, Jan Friedman, Shelin Adam, Zoe Lohn, Patricia Birch
DOI: 10.1038/ejhg.2013.94

Incidental Findings from Clinical Genome-Wide Sequencing: A Review
Journal of Genetic Counseling
Z. Lohn, S. Adam, P. H. Birch, J. M. Friedman
DOI: 10.1007/s10897-013-9604-4

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
American Journal of Medical Genetics Part A
Zoe Lohn, Shelin Adam, Patricia Birch, Anne Townsend, Jan Friedman
DOI: 10.1002/ajmg.a.35794

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases
Journal of Medical Ethics
Erika Kleiderman, Bartha Maria Knoppers, Conrad V Fernandez, Kym M Boycott, Gail Ouellette, Durhane Wong-Rieger, Shelin Adam, Julie Richer, Denise Avard
DOI: 10.1136/medethics-2013-101648

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
American Journal of Medical Genetics Part A
Anne Townsend, Shelin Adam, Patricia H. Birch, Zoe Lohn, Francois Rousseau, Jan M. Friedman
DOI: 10.1002/ajmg.a.35554

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
JM Friedman, Shelin Adam, Laura Arbour, Linlea Armstrong, Agnes Baross, Patricia Birch, Cornelius Boerkoel, Susanna Chan, David Chai, Allen D Delaney, Stephane Flibotte, William T Gibson, Sylvie Langlois, Emmanuelle Lemyre, H Irene Li, Patrick MacLeod, Joan Mathers, Jacques L Michaud, Barbara C McGillivray, Millan S Patel, Hong Qian, Guy A Rouleau, Margot I Van Allen, Siu-Li Yong, Farah R Zahir, Patrice Eydoux, Marco A Marra
DOI: 10.1186/1471-2164-10-526

Risk Reversals in Predictive Testing for Huntington Disease
The American Journal of Human Genetics
Elisabeth Almqvist, Shelin Adam, Maurice Bloch, Anne Fuller, Philip Welch, Debbie Eisenberg, Don Whelan, David Macgregor, Wendy Meschino, Michael R. Hayden
DOI: 10.1086/514873

Dilemmas of anonymous predictive testing for Huntington disease: Privacy vs. optimal care
American Journal of Medical Genetics
Michael M. Burgess, Shelin Adam, Maurice Bloch, Michael R. Hayden
DOI: 10.1002/(sici)1096-8628(19970808)71:23.0.co;2-9

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.
Journal of Medical Genetics
K Lawson, S Wiggins, T Green, S Adam, M Bloch, M R Hayden
DOI: 10.1136/jmg.33.10.856

Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease
American Journal of Medical Genetics
Tobin T. Copley, Sandi Wiggins, Suzanne Dufrasne, Maurice Bloch, Shelin Adam, William McKellin, Michael R. Hayden, The Canadian Collaborative Study For Predictive Testing for Huntington Disease
DOI: 10.1002/ajmg.1320580113

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Nature Genetics
Håkan Telenius, Berry Kremer, Y. Paul Goldberg, Jane Theilmann, Susan E. Andrew, Jutta Zeisler, Shelin Adam, Cheryl Greenberg, Elizabeth J. Ives, Lorne A. Clarke, Michael R. Hayden
DOI: 10.1038/ng0494-409

Huntington disease without CAG expansion: Phenocopies or errors in assignment?
American Journal of Human Genetics

Proceed with care: Direct predictive testing for Huntington Disease
American Journal of Human Genetics

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
Nature Genetics
Y. Paul Goldberg, Berry Kremer, Susan E. Andrew, Jane Theilmann, Rona K. Graham, Ferdinando Squitieri, Håkan Telenius, Shelin Adam, Anaar Sajoo, Elizabeth Starr, Arvid Heiberg, Gerhard Wolff, Michael R. Hayden
DOI: 10.1038/ng1093-174

Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program
American Journal of Medical Genetics
M. Bloch, S. Adam, A. Fuller, B. Kremer, J. P. Welch, S. Wiggins, P. Whyte, M. Huggins, J. Theilmann, M. R. Hayden
DOI: 10.1002/ajmg.1320470314

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
Nature Genetics
Susan E. Andrew, Y. Paul Goldberg, Berry Kremer, Håkan Telenius, Jane Theilmann, Shelin Adam, Elizabeth Starr, Ferdinando Squitieri, Biaoyang Lin, Michael A. Kalchman, Rona K. Graham, Michael R. Hayden
DOI: 10.1038/ng0893-398

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.
Journal of Medical Genetics
S Adam, S Wiggins, P Whyte, M Bloch, M H Shokeir, H Soltan, W Meschino, A Summers, O Suchowersky, J P Welch
DOI: 10.1136/jmg.30.7.549

Reply to Dr. Kessler
American Journal of Medical Genetics
Dr. Michael R Hayden, Shelin Adam, Maurice Bloch
DOI: 10.1002/ajmg.1320450608

Attitudes toward direct predictive testing for the Huntington Disease gene: Relevance for other adult-onset disorders

The Psychological Consequences of Predictive Testing for Huntingtons Disease
New England Journal of Medicine
Sandi Wiggins, Patti Whyte, Marlene Huggins, Shelin Adam, Jane Theilmann, Maurice Bloch, Samuel B. Sheps, Martin T. Schechter, Michael R. Hayden
DOI: 10.1056/nejm199211123272001

Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk
American Journal of Medical Genetics
Maurice Bloch, Shelin Adam, Sandy Wiggins, Marlene Huggins, Michael R. Hayden
DOI: 10.1002/ajmg.1320420416

Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk
American Journal of Medical Genetics
Marlene Huggins, Maurice Bloch, Sandi Wiggins, Shelin Adam, Oksana Suchowersky, Michael Trew, Marylou Klimek, Cheryl R. Greenberg, Michael Eleff, Louise P. Thompson, Julie Knight, Patrick MacLeod, Kathleen Girard, Jane Theilmann, Amy Hedrick, Michael R. Hayden
DOI: 10.1002/ajmg.1320420417

Linkage disequilibrium and modification of risk for Huntington Disease
American Journal of Human Genetics

Ethical and legal dilemmas arising during predictive testing for adult-onset disease: The experience of Huntington Disease
American Journal of Human Genetics

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
Journal of Medical Genetics
J Theilmann, S Kanani, R Shiang, C Robbins, O Quarrell, M Huggins, A Hedrick, B Weber, C Collins, J J Wasmuth
DOI: 10.1136/jmg.26.11.676


Current Project
The Friedman Lab, and I are interested in studying the introduction of new genetic and genomic technology years including Chromosomal Microarray, and Genomic Sequencing, and how it can best be used for the benefit of our patients and their families.

Through a number of different qualitative and quantitative research studies with various stakeholders involved in genome-wide sequencing, we have gained an understanding of the issues involved in families' decisions regarding genomic testing, and been involved in the establishment of guidelines for Canadian healthcare professionals in the offering of this test. As genetic counselling resources are scarce and non-genetics healthcare professionals often too busy or unable to adequately prepare families for the implications of genomic sequencing, we have developed DECIDE, an online, interactive educational tool and decision-aid designed to improve families’ understanding of issues surrounding genome-wide sequencing, and help support their choices. Use of such decision-aids has been shown to promote informed decisions that are consistent with the users’ values. We are studying the efficacy and acceptability of DECIDE for families’ genomic testing decisions. We are also measuring the outcomes for those who choose genomic testing, including psychological benefit or burden, the impact on quality of life, empowerment, and the ability to adapt and cope for parents and other family members.

I am also involved in CAUSES (Clinical Assessment of the Utility of Sequencing and Evaluation as a Service) clinic, which offers genomic sequencing to 500 patients with previously undiagnosed, but suspected to be genetic conditions. By identifying the underlying cause, this test can provide specific information about what to expect in the future and access to targeted therapies that can improve the health of these children with rare genetic diseases. This testing is not available as a clinical test for most patients in BC who need it, hence the goal of our research is to gather the evidence needed to transition this testing to a clinical service. The integrated multidisciplinary program includes a health economics study, assessment of the psychological and psychosocial impact of the testing process and research into various different modalities of offering patient education and genetic counselling including telehealth, an online decision aid and standard genetic counselling.

I am also involved with members of the Division of Neurology in a project to use whole exome sequencing (WES) technology with analysis of a targeted panel of genes known to be associated with epilepsy, to provide a faster and more cost-effective mean of diagnosis and treatment in children with epilepsy of unknown cause. We will also be assessing the use of an on-line education and counselling tool to simplify the genetic counselling.


Title: OPTIONS Amount: $25,000 Role: Co-investigator Dates: 2013-10 to 2014-12 Agency: APOGEE-Net/CanGène, University of Laval, Quebec, Canada

Title: Development and evaluation of a decision aid for genomic sequencing Amount: $25,000 Role: Co-investigator Dates: 2012-10 to 2013-12 Agency: APOGEE-Net/CanGène, University of Laval, Quebec, Canada

Title: Pediatric Epilepsy: Using Genomics to Improve Patient Care and Outcomes Amount: $100,000 Role: Co-investigator Dates: 2014-12 to 2017-12 Agency: Alva Foundation

Title: DECIDE-Genomics: a decision support tool for families Amount: $3,500 Role: Co-investigator Dates: 2013-12 to 2015-12 Agency: Rare Diseases Foundation

Title: Next generation sequencing: Towards guidelines for reporting incidental findings Amount: $25,000 Role: Co-investigator Dates: 2010-8 to 2012-4 Agency: APOGEE-Net/CanGène, University of Laval, Quebec, Canada

Research Group Members

Alice Wang
Christele du Souich, Investigator, BC Children's Hospital
Patricia Birch, Research Manager, Investigator, BC Children's Hospital, Research Nurse
Jan Friedman, Investigator, BC Children's Hospital
Liza Mak
Hilal Al Shekaili
Jill Mwenifumbo, Bioinformatician
Nicolas Dragojlovic
Suvina To
Madeline Couse
Rachel Coe
Sura Alwan
Megan Chan, Student
Colleen Guimond, Genetic Counsellor
Indhu Shree Rajan Babu
Elisa Lau
Nicole Liang, Research Assistant