Overview

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.

Publications

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia
Molecular Genetics & Genomic Medicine
DOI: 10.1002/mgg3.410
07/2018

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype ofMAGEL2-related disorders
Journal of Medical Genetics
Rebekah Jobling and Dimitri James Stavropoulos and Christian R Marshall and Cheryl Cytrynbaum and Michelle M Axford and Vanessa Londero and Sharon Moalem and Jennifer Orr and Francis Rossignol and Fatima Daniela Lopes and Julie Gauthier and Nathalie Alos and Rosemarie Rupps and Margaret McKinnon and Shelin Adam and Malgorzata J M Nowaczyk and Susan Walker and Stephen W Scherer and Christina Nassif and Fadi F Hamdan and Cheri L Deal and Jean-François Soucy and Rosanna Weksberg and Patrick Macleod and Jacques L Michaud and David Chitayat
DOI: 10.1136/jmedgenet-2017-105222
03/2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
GENETICS in MEDICINE
Nick Dragojlovic and Alison M Elliott and Shelin Adam and Clara van Karnebeek and Anna Lehman and Jill C Mwenifumbo and Tanya N Nelson and Christèle du Souich and Jan M Friedman and Larry D Lynd
DOI: 10.1038/gim.2017.226
01/2018

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
Journal of Genetic Counseling
Shelin Adam and Patricia H. Birch and Rachel R. Coe and Nick Bansback and Adrian L. Jones and Mary B. Connolly and Michelle K. Demos and Eric B. Toyota and Matthew J. Farrer and Jan M. Friedman
DOI: 10.1007/s10897-018-0281-1
2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
American journal of human genetics
DOI: 10.1016/j.ajhg.2017.11.013
PubMed: 29276005
12/2017

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Colin Wilbur and Sarah E. Buerki and Ilaria Guella and Eric B. Toyota and Daniel M. Evans and Marna B. McKenzie and Anita Datta and Aspasia Michoulas and Shelin Adam and Margot I. Van Allen and Tanya N. Nelson and Matthew J. Farrer and Mary B. Connolly and Michelle Demos
DOI: 10.1016/j.pediatrneurol.2017.06.003
10/2017

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 and Colin H. Peters and Katelin N. Townsend and Yaoqing Shen and Glenda Hendson and Shelin Adam and Kathryn Selby and Patrick M. Macleod and Cynthia Gershome and Peter Ruben and Steven J. M. Jones and Jan M. Friedman and William T. Gibson and Gabriella A. Horvath and the FORGE Canada Consortium
DOI: 10.1002/ajmg.a.38400
09/2017

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 and Jan M. Friedman
DOI: 10.1016/j.jclinepi.2017.09.019
2017

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 and Jan M. Friedman
DOI: 10.1016/j.jclinepi.2017.08.020
2017

De novoFGF12mutation in 2 patients with neonatal-onset epilepsy
Neurology Genetics
Ilaria Guella and Linda Huh and Marna B. McKenzie and Eric B. Toyota and E. Martina Bebin and Michelle L. Thompson and Gregory M. Cooper and Daniel M. Evans and Sarah E. Buerki and Shelin Adam and Margot I. Van Allen and Tanya N. Nelson and Mary B. Connolly and Matthew J. Farrer and Michelle Demos
DOI: 10.1212/nxg.0000000000000120
11/2016

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Martina A. Vortel and Shelin Adam and Ashley V. Port-Thompson and Jan M. Friedman and Stuart W. Grande and Patricia H. Birch
DOI: 10.1016/j.pec.2016.03.024
10/2016

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Patricia Birch and S. Adam and N. Bansback and R. R. Coe and J. Hicklin and A. Lehman and K. C. Li and J. M. Friedman
DOI: 10.1007/s10897-016-9971-8
05/2016

Parents’ Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing
Journal of Nursing Scholarship
Karen C. Li and Patricia H. Birch and Bernard M. Garrett and Maura MacPhee and Shelin Adam and Jan M. Friedman
DOI: 10.1111/jnu.12207
04/2016

Individual DNA samples and health information sold by 23andMe
Genetics in Medicine
Shelin Adam and Jan M. Friedman
DOI: 10.1038/gim.2015.82
06/2015

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 and Taila Hartley and Shelin Adam and Francois Bernier and Karen Chong and Bridget A Fernandez and Jan M Friedman and Michael T Geraghty and Stacey Hume and Bartha M Knoppers and Anne-Marie Laberge and Jacek Majewski and Roberto Mendoza-Londono and M Stephen Meyn and Jacques L Michaud and Tanya N Nelson and Julie Richer and Bekim Sadikovic and David L Skidmore and Tracy Stockley and Sherry Taylor and Clara van Karnebeek and Ma'n H Zawati and Julie Lauzon and Christine M Armour
DOI: 10.1136/jmedgenet-2015-103144
05/2015

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
The American Journal of Human Genetics
Chandree L. Beaulieu and Jacek Majewski and Jeremy Schwartzentruber and Mark E. Samuels and Bridget A. Fernandez and Francois P. Bernier and Michael Brudno and Bartha Knoppers and Janet Marcadier and David Dyment and Shelin Adam and Dennis E. Bulman and Steve J.M. Jones and Denise Avard and Minh Thu Nguyen and Francois Rousseau and Christian Marshall and Richard F. Wintle and Yaoqing Shen and Stephen W. Scherer and Jan M. Friedman and Jacques L. Michaud and Kym M. Boycott
DOI: 10.1016/j.ajhg.2014.05.003
06/2014

Genetic Diagnosis through Whole-Exome Sequencing
New England Journal of Medicine
DOI: 10.1056/nejmc1315908
03/2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Orphanet Journal of Rare Diseases
Michelle K Demos and Clara DM van Karnebeek and Colin JD Ross and Shelin Adam and Yaoqing Shen and Shing Hei Zhan and Casper Shyr and Gabriella Horvath and Mohnish Suri and Alan Fryer and Steven JM Jones and Jan M Friedman and the FORGE Canada Consortium
DOI: 10.1186/1750-1172-9-15
2014

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard
Genetics in Medicine
Anne Townsend and Shelin Adam and Patricia H. Birch and Jan M. Friedman
DOI: 10.1038/gim.2013.105
09/2013

Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing
European Journal of Human Genetics
Anne Townsend and Francois Rousseau and Jan Friedman and Shelin Adam and Zoe Lohn and Patricia Birch
DOI: 10.1038/ejhg.2013.94
05/2013

Incidental Findings from Clinical Genome-Wide Sequencing: A Review
Journal of Genetic Counseling
Z. Lohn and S. Adam and P. H. Birch and J. M. Friedman
DOI: 10.1007/s10897-013-9604-4
05/2013

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
American Journal of Medical Genetics Part A
Zoe Lohn and Shelin Adam and Patricia Birch and Anne Townsend and Jan Friedman
DOI: 10.1002/ajmg.a.35794
02/2013

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

“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 and Shelin Adam and Patricia H. Birch and Zoe Lohn and Francois Rousseau and Jan M. Friedman
DOI: 10.1002/ajmg.a.35554
08/2012

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
JM Friedman and Shelin Adam and Laura Arbour and Linlea Armstrong and Agnes Baross and Patricia Birch and Cornelius Boerkoel and Susanna Chan and David Chai and Allen D Delaney and Stephane Flibotte and William T Gibson and Sylvie Langlois and Emmanuelle Lemyre and H Irene Li and Patrick MacLeod and Joan Mathers and Jacques L Michaud and Barbara C McGillivray and Millan S Patel and Hong Qian and Guy A Rouleau and Margot I Van Allen and Siu-Li Yong and Farah R Zahir and Patrice Eydoux and Marco A Marra
DOI: 10.1186/1471-2164-10-526
2009

Risk Reversals in Predictive Testing for Huntington Disease
The American Journal of Human Genetics
Elisabeth Almqvist and Shelin Adam and Maurice Bloch and Anne Fuller and Philip Welch and Debbie Eisenberg and Don Whelan and David Macgregor and Wendy Meschino and Michael R. Hayden
DOI: 10.1086/514873
10/1997

Dilemmas of anonymous predictive testing for Huntington disease: Privacy vs. optimal care
American Journal of Medical Genetics
Michael M. Burgess and Shelin Adam and Maurice Bloch and Michael R. Hayden
DOI: 10.1002/(sici)1096-8628(19970808)71:23.0.co;2-9
08/1997

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 and S Wiggins and T Green and S Adam and M Bloch and M R Hayden
DOI: 10.1136/jmg.33.10.856
10/1996

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 and Sandi Wiggins and Suzanne Dufrasne and Maurice Bloch and Shelin Adam and William McKellin and Michael R. Hayden and The Canadian Collaborative Study For Predictive Testing for Huntington Disease
DOI: 10.1002/ajmg.1320580113
07/1995

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Nature Genetics
Håkan Telenius and Berry Kremer and Y. Paul Goldberg and Jane Theilmann and Susan E. Andrew and Jutta Zeisler and Shelin Adam and Cheryl Greenberg and Elizabeth J. Ives and Lorne A. Clarke and Michael R. Hayden
DOI: 10.1038/ng0494-409
04/1994

Proceed with care: Direct predictive testing for Huntington Disease
American Journal of Human Genetics
1994

Huntington disease without CAG expansion: Phenocopies or errors in assignment?
American Journal of Human Genetics
1994

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
Nature Genetics
Y. Paul Goldberg and Berry Kremer and Susan E. Andrew and Jane Theilmann and Rona K. Graham and Ferdinando Squitieri and Håkan Telenius and Shelin Adam and Anaar Sajoo and Elizabeth Starr and Arvid Heiberg and Gerhard Wolff and Michael R. Hayden
DOI: 10.1038/ng1093-174
10/1993

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 and S. Adam and A. Fuller and B. Kremer and J. P. Welch and S. Wiggins and P. Whyte and M. Huggins and J. Theilmann and M. R. Hayden
DOI: 10.1002/ajmg.1320470314
09/1993

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
Nature Genetics
Susan E. Andrew and Y. Paul Goldberg and Berry Kremer and Håkan Telenius and Jane Theilmann and Shelin Adam and Elizabeth Starr and Ferdinando Squitieri and Biaoyang Lin and Michael A. Kalchman and Rona K. Graham and Michael R. Hayden
DOI: 10.1038/ng0893-398
08/1993

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.
Journal of Medical Genetics
S Adam and S Wiggins and P Whyte and M Bloch and M H Shokeir and H Soltan and W Meschino and A Summers and O Suchowersky and J P Welch
DOI: 10.1136/jmg.30.7.549
07/1993

Reply to Dr. Kessler
American Journal of Medical Genetics
Dr. Michael R Hayden and Shelin Adam and Maurice Bloch
DOI: 10.1002/ajmg.1320450608
03/1993

Attitudes toward direct predictive testing for the Huntington Disease gene: Relevance for other adult-onset disorders
JAMA
1993

The Psychological Consequences of Predictive Testing for Huntingtons Disease
New England Journal of Medicine
Sandi Wiggins and Patti Whyte and Marlene Huggins and Shelin Adam and Jane Theilmann and Maurice Bloch and Samuel B. Sheps and Martin T. Schechter and Michael R. Hayden
DOI: 10.1056/nejm199211123272001
11/1992

Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk
American Journal of Medical Genetics
Maurice Bloch and Shelin Adam and Sandy Wiggins and Marlene Huggins and Michael R. Hayden
DOI: 10.1002/ajmg.1320420416
02/1992

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 and Maurice Bloch and Sandi Wiggins and Shelin Adam and Oksana Suchowersky and Michael Trew and Marylou Klimek and Cheryl R. Greenberg and Michael Eleff and Louise P. Thompson and Julie Knight and Patrick MacLeod and Kathleen Girard and Jane Theilmann and Amy Hedrick and Michael R. Hayden
DOI: 10.1002/ajmg.1320420417
02/1992

Linkage disequilibrium and modification of risk for Huntington Disease
American Journal of Human Genetics
1991

Ethical and legal dilemmas arising during predictive testing for adult-onset disease: The experience of Huntington Disease
American Journal of Human Genetics
1990

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
Journal of Medical Genetics
J Theilmann and S Kanani and R Shiang and C Robbins and O Quarrell and M Huggins and A Hedrick and B Weber and C Collins and J J Wasmuth
DOI: 10.1136/jmg.26.11.676
11/1989

Research

CAUSES

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.

Grants

BC Children's Hospital. Project: "Detection of toxigenic Clostridium difficile in Pediatrics: Evaluation of Four Different Methods." With P. Tilley. 2010.

BC Children's Hospital. Project: "Health-care associated C. difficile Infection in Pediatric Oncology." With S. Dobson. A. Al-Najjar, R. Deyell, E. Thomas, P. Tilley. 2013.

Research Group Members

Hilal Al Shekaili, PhD Candidate
Sura Alwan, Bilingual Arabic-speaking Research Coordinator
Indhu Shree Rajan Babu, Postdoctoral Research Fellow
Patricia Birch, Research Manager, Investigator, BC Children's Hospital, Research Nurse
Kristen CARLSON, Social Student
Megan Chan, Student
Madeline Couse, Bioinformatician
Nicolas Dragojlovic, Research Associate
Jan Friedman, Investigator, BC Children's Hospital
Colleen Guimond, Genetic Counsellor
Julia Handra, Research Assistant
Axel Hauduc, Graduate Rotation Student
Elisa Lau, Undergrad Academic Asst
Jacqueline Li, Graduate Research Assistant
Nicole Liang, Research Assistant
Liza Mak, Administrative Coordinator
Jasmine Peng, Research Assistant
Anastasia Richardson, Program Manager
Simya Surani, Project Assistant
Christele du Souich, Investigator, BC Children's Hospital