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

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study
Journal of Telemedicine and Telecare
Elliott, A.M. and Dragojlovic, N. and Campbell, T. and Adam, S. and Souich, C.D. and Fryer, M. and Lehman, A. and Karnebeek, C.V. and Lynd, L.D. and Friedman, J.M.
DOI: 10.1177/1357633X20982737
2023

The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing
Journal of Genetic Counseling
Faith Cheung and Patricia Birch and J. M. Friedman and Alison M Elliott and Shelin Adam
DOI: 10.1002/jgc4.1558
08/2022

After genomic testing results: Parents’ long-term views
Journal of Genetic Counseling
Nicole Si Yan Liang and Shelin Adam and Alison M. Elliott and Angela Siemens and Christ{\`{e}}le Souich and Jan M. Friedman and Patricia Birch and and
DOI: 10.1002/jgc4.1454
02/2022

Novel CIC variants identified in individuals with neurodevelopmental phenotypes
Human Mutation
Sharma, S. and Hourigan, B. and Patel, Z. and Rosenfeld, J.A. and Chan, K.M. and Wangler, M.F. and Yi, J.S. and Lehman, A. and Horvath, G. and Cloos, P.A. and Tan, Q. and Adam, S. and Du Souich, C. and Elliott, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.
DOI: 10.1002/humu.24346
2022

A personalized genomic results e-booklet, co-designed and pilot-tested by families
PEC Innovation
Handra, J. and Guimond, C. and Jordan, I. and Lenahan, B. and Ohs, K. and Beauchesne, R. and Adam, S. and Friedman, J.M. and Birch, P.
DOI: 10.1016/j.pecinn.2022.100039
2022

Correction to: The stepwise process of integrating a genetic counsellor into primary care (European Journal of Human Genetics, (2022), 30, 7, (772-781), 10.1038/s41431-022-01040-x)
European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01063-4
2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI: 10.1016/j.xhgg.2022.100108
2022

The stepwise process of integrating a genetic counsellor into primary care
European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01040-x
2022

Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada
Molecular Genetics and Genomic Medicine
Enns, E.A. and Wainstein, T. and Dragojlovic, N. and Kopac, N. and Lynd, L.D. and Elliott, A.M. and Austin, J. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/mgg3.1784
2021

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada
European Journal of Medical Genetics
Cook, C.B. and Dragojlovic, N. and Siemens, A. and Adam, S. and du Souich, C. and van Karnebeek, C. and Lehman, A. and Nelson, T.N. and Friedman, J. and Lynd, L.D. and Elliott, A.M.
DOI: 10.1016/j.ejmg.2020.104024
2021

Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences
Journal of Genetic Counseling
Aldridge, C.E. and Osiovich, H. and Siden, H. and Elliott, A.M. and Candido, T. and Christilaw, J. and Dragojlovic, N. and du Souich, C. and Evans, D.M. and Farrer, M.J. and Friedman, J.M. and Guella, I. and Lehman, A. and Lynd, L.D. and Tooman, L. and Austin, J. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/jgc4.1353
2021

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
European Journal of Human Genetics
McTiernan, N. and Gill, H. and Prada, C.E. and Pachajoa, H. and Lores, J. and Arnesen, T. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.
DOI: 10.1038/s41431-020-00728-2
2021

Genetic counselors and legal recognition: A made-for-Canada approach
Journal of Genetic Counseling
Lambert, D.M. and Patrinos, D. and Knoppers, B.M. and Zawati, M.H. and Elliott, A.M. and Austin, J. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Pullman, D. and Virani, A. and Wasserman, W.
DOI: 10.1002/jgc4.1468
2021

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Genome Medicine, (2021), 13, 1, (126), 10.1186/s13073-021-00932-9)
Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Birch, P. and Couse, M. and Guimond, C. and Lehman, A. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Rajan-Babu and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00961-4
2021

Genetic counseling research and COVID-19: A lesson in resiliency
Journal of Genetic Counseling
Borle, K. and Dey, A. and Carrion, P. and Austin, J. and Elliott, A.M. and Knoppers, B. and Lynd, L.D. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Myers, M.
DOI: 10.1002/jgc4.1502
2021

Utilization and uptake of clinical genetics services in high-income countries: A scoping review
Health Policy
Dragojlovic, N. and Kopac, N. and Borle, K. and Tandun, R. and Salmasi, S. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.
DOI: 10.1016/j.healthpol.2021.04.010
2021

Out-of-pocket and private pay in clinical genetic testing: A scoping review
Clinical Genetics
Grant, P. and Langlois, S. and Lynd, L.D. and Austin, J.C. and Elliott, A.M. and Dragojlovic, N. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, Z.
DOI: 10.1111/cge.14006
2021

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Adam, S. and Souich, C.D. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Friedman, J. and Birch, P. and Couse, M. and Guimond, C. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00932-9
2021

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0903-5
PubMed: 32651549
09/2020

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0825-2
PubMed: 32576987
06/2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
European Journal of Human Genetics
Nambot, S. and Faivre, L. and Mirzaa, G. and Thevenon, J. and Bruel, A.-L. and Mosca-Boidron, A.-L. and Masurel-Paulet, A. and Goldenberg, A. and Le Meur, N. and Charollais, A. and Mignot, C. and Petit, F. and Rossi, M. and Metreau, J. and Layet, V. and Amram, D. and Boute-Bénéjean, O. and Bhoj, E. and Cousin, M.A. and Kruisselbrink, T.M. and Lanpher, B.C. and Klee, E.W. and Fiala, E. and Grange, D.K. and Meschino, W.S. and Hiatt, S.M. and Cooper, G.M. and Olivié, H. and Smith, W.E. and Dumas, M. and Lehman, A. and Adam, S. and du Souich, C. and Elliott, A.M. and Lehman, A. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Inglese, C. and Nizon, M. and Guerrini, R. and Vetro, A. and Kaplan, E.S. and Miramar, D. and Van Gils, J. and Fergelot, P. and Bodamer, O. and Herkert, J.C. and Pajusalu, S. and Õunap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Gérard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Poé, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivière, J.-B. and Tran Mau-Them, F. and Philippe, C. and Duffourd, Y. and Dobyns, W.B. and Hevner, R. and Thauvin-Robinet, C.
DOI: 10.1038/s41431-020-0571-6
2020

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine
Dragojlovic, N. and van Karnebeek, C.D.M. and Ghani, A. and Genereaux, D. and Kim, E. and Birch, P. and Adam, S. and Dragojlovic, N. and du Souich, C. and Elliott, A.M. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Elliott, A.M. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/s41436-019-0635-6
2020

Renpenning syndrome in a female
American Journal of Medical Genetics, Part A
Cho, R.Y. and Peñaherrera, M.S. and Du Souich, C. and Huang, L. and Mwenifumbo, J. and Nelson, T.N. and Elliott, A.M. and Adam, S. and Eydoux, P. and Yang, G.X. and Chijiwa, C. and Van Allen, M.I. and Friedman, J.M. and Robinson, W.P. and Lehman, A.
DOI: 10.1002/ajmg.a.61451
2020

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy
Frontiers in Neurology
Demos, M. and Guella, I. and DeGuzman, C. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and Van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.
DOI: 10.3389/fneur.2019.00434
2019

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
Journal of Genetic Counseling
Adam, S. and Birch, P.H. and Coe, R.R. and Bansback, N. and Jones, A.L. and Connolly, M.B. and Demos, M.K. and Toyota, E.B. and Farrer, M.J. and Friedman, J.M.
DOI: 10.1007/s10897-018-0281-1
2019

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors
Journal of Genetic Counseling
Birch, P.H. and Adam, S. and Coe, R.R. and Port, A.V. and Vortel, M. and Friedman, J.M. and Légaré, F.
DOI: 10.1007/s10897-018-0285-x
2019

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

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

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
American journal of human genetics
DOI: 10.1016/j.ajhg.2017.07.004
PubMed: 28777935
08/2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
American journal of human genetics
DOI: 10.1016/j.ajhg.2017.05.016
PubMed: 28669405
06/2017

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy
bioRxiv
Demos, M. and Guella, I. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.
DOI: 10.1101/139329
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
Adam, S. and Friedman, J.M.
DOI: 10.1016/j.jclinepi.2017.08.020
2017

Controversy and debate on clinical genomics sequencing—paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau
Journal of Clinical Epidemiology
Adam, S. and Friedman, J.M.
DOI: 10.1016/j.jclinepi.2017.09.019
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
Adam, S. and Friedman, J.M.
DOI: 10.1038/gim.2015.82
2016

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
Neurology: Genetics
Guella, I. and Huh, L. and McKenzie, M.B. and Toyota, E.B. and Martina Bebin, E. and Thompson, M.L. and Cooper, G.M. and Evans, D.M. and Buerki, S.E. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Connolly, M.B. and Farrer, M.J. and Demos, M.
DOI: 10.1212/NXG.0000000000000120
2016

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

Incidental findings from clinical genome-wide sequencing: A review
Journal of Genetic Counseling
Lohn, Z. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1007/s10897-013-9604-4
2014

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing
European Journal of Human Genetics
Townsend, A. and Rousseau, F. and Friedman, J. and Adam, S. and Lohn, Z. and Birch, P.
DOI: 10.1038/ejhg.2013.94
2014

Returning incidental findings from genetic research to children: Views of parents of children affected by rare diseases
Journal of Medical Ethics
Kleiderman, E. and Knoppers, B.M. and Fernandez, C.V. and Boycott, K.M. and Ouellette, G. and Wong-Rieger, D. and Adam, S. and Richer, J. and Avard, D.
DOI: 10.1136/medethics-2013-101648
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

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

“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

What can genomics do for health care?
British Columbia Medical Journal
Thomas, M. and Adam, S. and du Souich, C. and van Allen, M. and Boerkoel, C.F.
2009

Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease
Clinical Genetics
Almqvist, E.W. and Brinkman, R.R. and Wiggins, S. and Hayden, M.R. and Nicolson Klimek, M.L. and Trew, M. and Suchowersky, O. and Grover, S. and Bamforth, S. and Adam, S. and Huggins, M. and Bloch, M. and Green, T. and Greenberg, C. and Ives, E. and Fuller, A. and Welch, P. and Eisenberg, D. and Whelan, D. and Kane, J. and Soltan, H. and MacGregor, D. and Summers, A. and Meschino, W. and Prevost, C. and Dunfrasne, S. and Roy, M. and Rosenblatt, D. and Cardwell, S. and Gibson, A. and Shokeir, M.H.K.
DOI: 10.1034/j.1399-0004.2003.00157.x
2003

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

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

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease
Journal of Medical Genetics
Lawson, K. and Wiggins, S. and Green, T. and Adam, S. and Bloch, M. and Hayden, M.R. and Klimek, M. and Suchowersky, O. and Grover, S. and Bamforth, S. and Shokeir, M.H.K. and Greenberg, C. and Kane, J. and Soltan, H. and Eisenberg, D. and Whelan, D. and MacGregor, D. and Summers, A. and Meschino, W. and Hunter, A. and MacLeod, P. and Dufrasne, S. and Rosenblatt, D. and Prevost, C. and Fuller, A. and Welch, P. and Ives, E.
1996

A long term (ca 5 years) prospective assessment of psychological consequences of predictive testing for Huntington disease (HD)
American journal of human genetics
Wiggins, S. and Green, T. and Adam, S. and Hayden, M.R.
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

Erratum: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (Nature Genetics (1994) 6 (409-413))
Nature Genetics
Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.
DOI: 10.1038/ng0594-113b
1994

Proceed with Care: Direct Predictive Testing for Huntington Disease
American Journal of Human Genetics
Benjamin, C.M. and Adam, S. and Wiggins, S. and Theilmann, J.L. and Copley, T.T. and Bloch, M. and Squitieri, F. and McKellin, W. and Cox, S. and Brown, S.A. and Kremer, H.P.H. and Burgess, M. and Meshino, W. and Summers, A. and Macgregor, D. and Buchanan, J. and Greenberg, C. and Carson, N. and Ives, E. and Frecker, M. and Welch, J.P. and Fuller, A. and Rosenblatt, D. and Miller, S. and Dufrasne, S. and Roy, M. and Andermann, E. and Prevost, C. and Khalifa, M. and Girard, K. and Taylor, S. and Hunter, A. and Goldsmith, C. and Whelan, D. and Eisenberg, D. and Soltan, H. and Kane, J. and Shokeir, M.H.K. and Gibson, A. and Cardwell, S. and Banforth, S. and Grover, S. and Suchowersky, O. and Klimek, M. and Garber, T. and Gardner, H.A. and MacLeod, P. and Hayden, M.R.
1994

Huntington disease without CAG expansion: Phenocopies or errors in assignment?
American Journal of Human Genetics
Andrew, S.E. and Paul Goldberg, Y. and Kremer, B. and Squitieri, F. and Theilmann, J. and Zeisler, J. and Telenius, H. and Adam, S. and Almquist, E. and Anvret, M. and Lucotte, G. and Jon Stoessl, A. and Campanella, G. and Hayden, M.R.
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
DOI: 10.1001/jama.1993.03510190077030
1993

The psychological consequences of predictive testing for huntington’s disease
Obstetrical and Gynecological Survey
Wiggins, S. and Whyte, P. and Huggins, M. and Adam, S. and Theilmann, J. and Bloch, M. and Sheps, S.B. and Schechter, M.T. and Hayden, M.R.
DOI: 10.1097/00006254-199304000-00013
1993

Reinveting the wheel
American Journal of Medical Genetics
Kessler, S. and Hayden, M.R. and Adam, S. and Bloch, M. and Chapman, M.A.
DOI: 10.1002/ajmg.1320450607
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

The Psychological Consequences of Predictive Testing for Huntingtons Disease
New England Journal of Medicine
Wiggins, S. and Whyte, P. and Huggins, M. and Adam, S. and Theilmann, J. and Bloch, M. and Sheps, S.B. and Schechter, M.T. and Hayden, M.R.
DOI: 10.1056/NEJM199211123272001
1992

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

Linkage disequilibrium and modification of risk for huntington disease
American Journal of Human Genetics
Adam, S. and Theilmann, J. and Buetow, K. and Hedrick, A. and Collins, C. and Weber, B. and Huggins, M. and Hayden, M.
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.

GenCOUNSEL
A large research study focussed on the Genetic Counselling profession.

Research Group Members

Taghrid Aloraini, Graduate Research Assistant
Sura Alwan, Bilingual Arabic-speaking Research Coordinator
Patricia Birch, Investigator, Research Manager and Research Nurse, BC Children's Hospital
Iris Caglayan, Research Assistant
Jan Friedman, Investigator, BC Children's Hospital
Colleen Guimond, Genetic Counsellor
Jessica Ha
Kyle Jenkins, Masters Student
Liza Mak, Administrative Coordinator
Jill Mwenifumbo, Genome Analyst
Jasmine Peng, Research Assistant
Lauren T Piers, Research Genetic Counsellor
Indhu Rajan Babu, Research Associate
Riya Saju, Graduate Research Assistant
Andrew Sherrard, PhD Student
Ada Tsui
Shanik Vij, Research Assistant