Shelin Adam

BSc, MSc

Investigator and Research Genetic Counsellor, BC Children's Hospital

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.

Academic Affiliations

  • Clinical Assistant Professor, , Department of Medical Genetics, Faculty of Medicine, University of British Columbia
  • Research Theme: Childhood Diseases
  • Research Group(s): Clinical Practice, Outcomes and Innovation; Rare Diseases

Contact Information

Assistant

Liza Mak

liza.mak@ubc.ca

Location

4500 Oak Street, Vancouver, British Columbia, Canada, V6H 3N1

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada

Journal of Genetic Counseling

Rojas, S.K. and Adam, S. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. 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 Elliott, A.M. and Zawati, M.H.

DOI: 10.1002/jgc4.1943

Immune Dysregulation in a Child With SOD1-Related Neurological Disease

American Journal of Medical Genetics Part A

Boutin, R.C.T. and Shobeirian, F. and Adam, S. and Lehman, A. and Salvarinova, R. and Friedman, J.M.

DOI: 10.1002/ajmg.a.63949

Parental perspectives on family-centered care in pediatric neurology: An explanatory sequential mixed-methods study

Developmental Medicine and Child Neurology

Sarikaya, E. and Cook, C.B. and Selby, K.A. and Shen, Y. and Elliott, A.M. and Austin, J. and Knoppers, B. 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. and Elliott, A.M.

DOI: 10.1111/dmcn.16275

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review

Genetics in Medicine

Cook, C.B. and Pistawka, C. and Elliott, A.M. and Austin, J. and Knoppers, B. 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.

DOI: 10.1016/j.gim.2025.101354

Putting control into parents' hands: Parent experiences with a genomic results e-booklet

Journal of Genetic Counseling

Adam, S. and Gombas, P. and Demos, M. and Boelman, C. and Connolly, M.B. and Lavelle, K. and Friedman, J.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M. and Birch, P.

DOI: 10.1002/jgc4.70095

Where there is no genetic counselor: An online decision-aid supports the majority of parents diagnostic genomic testing choices for their children

Genetics in Medicine

Birch, P. and Beauchesne, R. and Bansback, N. and Boelman, C. and Connolly, M. and Demos, M. and Friedman, J.M. and Race, S. and Stockler, S. and Elliott, L.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M.

DOI: 10.1016/j.gim.2024.101173

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

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

The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing

Journal of Genetic Counseling

Cheung, F. and Birch, P. and Friedman, J.M. and Elliott, A.M. and Adam, S.

DOI: 10.1002/jgc4.1558

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

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

After genomic testing results: Parents long-term views

Journal of Genetic Counseling

Liang, N.S.Y. and Adam, S. and Elliott, A.M. and Siemens, A. and du Souich, C. and Friedman, J.M. and Birch, P.

DOI: 10.1002/jgc4.1454

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Renpenning syndrome in a female

American Journal of Medical Genetics, Part A

Cho, R.Y. and Peaherrera, 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

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-Bnjean, 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 Olivi, 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 unap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Grard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Po, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivire, 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

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

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 Lgar, F.

DOI: 10.1007/s10897-018-0285-x

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

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

Journal of medical genetics

Jobling, R. and Stavropoulos, D.J. and Marshall, C.R. and Cytrynbaum, C. and Axford, M.M. and Londero, V. and Moalem, S. and Orr, J. and Rossignol, F. and Lopes, F.D. and Gauthier, J. and Alos, N. and Rupps, R. and McKinnon, M. and Adam, S. and Nowaczyk, M.J.M. and Walker, S. and Scherer, S.W. and Nassif, C. and Hamdan, F.F. and Deal, C.L. and Soucy, J.-F. and Weksberg, R. and Macleod, P. and Michaud, J.L. and Chitayat, D.

DOI: 10.1136/jmedgenet-2017-105222

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

Molecular Genetics and Genomic Medicine

Elliott, A.M. and du Souich, C. and Adam, S. and Dragojlovic, N. and van Karnebeek, C. and Nelson, T.N. and Lehman, A. and Lynd, L.D. and Friedman, J.M.

DOI: 10.1002/mgg3.410

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Genetics in Medicine

Dragojlovic, N. and Elliott, A.M. and Adam, S. and van Karnebeek, C. and Lehman, A. and Mwenifumbo, J.C. and Nelson, T.N. and du Souich, C. and Friedman, J.M. and Lynd, L.D.

DOI: 10.1038/gim.2017.226

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

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

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

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

American Journal of Human Genetics

Guella, I. and McKenzie, M.B. and Evans, D.M. and Buerki, S.E. and Toyota, E.B. and Van Allen, M.I. and Adam, S. and Boelman, C. and Bolbocean, C. and Candido, T. and Eydoux, P. and Horvath, G. and Huh, L. and Nelson, T.N. and Sinclair, G. and van Karnebeek, C. and Vercauteren, S. and Suri, M. and Elmslie, F. and Simon, M.E.H. and van Gassen, K.L.I. and Hron, D. and Keren, B. and Nava, C. and Connolly, M.B. and Demos, M. and Farrer, M.J.

DOI: 10.1016/j.ajhg.2017.07.004

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

American Journal of Human Genetics

Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.

DOI: 10.1016/j.ajhg.2017.05.016

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

American Journal of Medical Genetics, Part A

Thibodeau, M.L. and Peters, C.H. and Townsend, K.N. and Shen, Y. and Hendson, G. and Adam, S. and Selby, K. and Macleod, P.M. and Gershome, C. and Ruben, P. and Jones, S.J.M. and Friedman, J.M. and Gibson, W.T. and Horvath, G.A.

DOI: 10.1002/ajmg.a.38400

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2

Pediatric Neurology

Wilbur, C. and Buerki, S.E. and Guella, I. and Toyota, E.B. and Evans, D.M. and McKenzie, M.B. and Datta, A. and Michoulas, A. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Farrer, M.J. and Connolly, M.B. and Demos, M.

DOI: 10.1016/j.pediatrneurol.2017.06.003

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

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling.

Patient Education and Counseling

Vortel, M.A. and Adam, S. and Port-Thompson, A.V. and Friedman, J.M. and Grande, S.W. and Birch, P.H.

DOI: 10.1016/j.pec.2016.03.024

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing

Journal of Nursing Scholarship

Li, K.C. and Birch, P.H. and Garrett, B.M. and Macphee, M. and Adam, S. and Friedman, J.M.

DOI: 10.1111/jnu.12207

Individual DNA samples and health information sold by 23andMe

Genetics in Medicine

Adam, S. and Friedman, J.M.

DOI: 10.1038/gim.2015.82

DECIDE: a Decision Support Tool to Facilitate Parents Choices Regarding Genome-Wide Sequencing

Journal of Genetic Counseling

Birch, P. and Adam, S. and Bansback, N. and Coe, R.R. and Hicklin, J. and Lehman, A. and Li, K.C. and Friedman, J.M.

DOI: 10.1007/s10897-016-9971-8

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

Boycott, K. and Hartley, T. and Adam, S. and Bernier, F. and Chong, K. and Fernandez, B.A. and Friedman, J.M. and Geraghty, M.T. and Hume, S. and Knoppers, B.M. and Laberge, A.-M. and Majewski, J. and Mendoza-Londono, R. and Meyn, M.S. and Michaud, J.L. and Nelson, T.N. and Richer, J. and Sadikovic, B. and Skidmore, D.L. and Stockley, T. and Taylor, S. and van Karnebeek, C. and Zawati, M.H. and Lauzon, J. and Armour, C.M.

DOI: 10.1136/jmedgenet-2015-103144

Genetic Diagnosis through Whole-Exome Sequencing

New England Journal of Medicine

DOI: 10.1056/nejmc1315908

03 / 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

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

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Orphanet Journal of Rare Diseases

Demos, M.K. and Van Karnebeek, C.D.M. and Ross, C.J.D. and Adam, S. and Shen, Y. and Zhan, S.H. and Shyr, C. and Horvath, G. and Suri, M. and Fryer, A. and Jones, S.J.M. and Friedman, J.M.

DOI: 10.1186/1750-1172-9-15

FORGE Canada consortium: Outcomes of a 2-year national rare-disease gene-discovery project

American Journal of Human Genetics

Beaulieu, C.L. and Majewski, J. and Schwartzentruber, J. and Samuels, M.E. and Fernandez, B.A. and Bernier, F.P. and Brudno, M. and Knoppers, B. and Marcadier, J. and Dyment, D. and Adam, S. and Bulman, D.E. and Jones, S.J.M. and Avard, D. and Nguyen, M.T. and Rousseau, F. and Marshall, C. and Wintle, R.F. and Shen, Y. and Scherer, S.W. and Friedman, J.M. and Michaud, J.L. and Boycott, K.M.

DOI: 10.1016/j.ajhg.2014.05.003

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

Paternalism and the ACMG recommendations on genomic incidental findings: Patients seen but not heard

Genetics in Medicine

Townsend, A. and Adam, S. and Birch, P.H. and Friedman, J.M.

DOI: 10.1038/gim.2013.105

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing

American Journal of Medical Genetics, Part A

Lohn, Z. and Adam, S. and Birch, P. and Townsend, A. and Friedman, J.

DOI: 10.1002/ajmg.a.35794

"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

Townsend, A. and Adam, S. and Birch, P.H. and Lohn, Z. and Rousseau, F. and Friedman, J.M.

DOI: 10.1002/ajmg.a.35554

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.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

BMC Genomics

Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.

DOI: 10.1186/1471-2164-10-526

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

Risk reversals in predictive testing for Huntington disease

American Journal of Human Genetics

Almqvist, E. and Adam, S. and Bloch, M. and Fuller, A. and Welch, P. and Eisenberg, D. and Whelan, D. and Macgregor, D. and Meschino, W. and Hayden, M.R.

DOI: 10.1086/514873

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)71:2u003C197::AID-AJMG15u003E3.0.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 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

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.

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.

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

Copley, T.T. and Wiggins, S. and Dufrasne, S. and Bloch, M. and Adam, S. and McKellin, W. and Hayden, M.R. and Ives, E. and Welch, J.P. and Fuller, A. and Miller, S. and Andermann, E. and Roy, M. and McLeod, P. and Hunter, A. and Meschino, W. and Summers, A. and Whelan, D. and Eisenberg, D.

DOI: 10.1002/ajmg.1320580113

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.

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.

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

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/ng0494-409

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

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

The psychological consequences of predictive testing for huntingtons 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

Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects

Nature Genetics

Goldberg, Y.P. and Kremer, B. and Andrew, S.E. and Theilmann, J. and Graham, R.K. and Squitieri, F. and Telenius, H. and Adam, S. and Sajoo, A. and Starr, E. and Heiberg, A. and Wolff, G. and Hayden, M.R.

DOI: 10.1038/ng1093-174

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

Five year study of prenatal testing for Huntington's disease: Demand, attitudes, and psychological assessment

Journal of Medical Genetics

Adam, S. and Wiggins, S. and Whyte, P. and Bloch, M. and Shokeir, M.H.K. and Soltan, H. and Meschino, W. and Summers, A. and Suchowersky, O. and Welch, J.P. and Huggins, M. and Theilmann, J. and Hayden, M.R.

DOI: 10.1136/jmg.30.7.549

Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene: Relevance for Other Adult-Onset Disorders

JAMA: The Journal of the American Medical Association

Babul, R. and Adam, S. and Kremer, B. and Wiggins, S. and Huggins, M. and Theilmann, J. and Bloch, M. and Hayden, M.R. and Dufrasne, S.

DOI: 10.1001/jama.1993.03510190077030

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Nature Genetics

Andrew, S.E. and Goldberg, Y.P. and Kremer, B. and Telenius, H. and Theilmann, J. and Adam, S. and Starr, E. and Squitieri, F. and Lin, B. and Kalchman, M.A. and Graham, R.K. and Hayden, M.R.

DOI: 10.1038/ng0893-398

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

Bloch, M. and Adam, S. and Fuller, A. and Kremer, B. and Welch, J.P. and Wiggins, S. and Whyte, P. and Huggins, M. and Theilmann, J. and Hayden, M.R.

DOI: 10.1002/ajmg.1320470314

Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk

American Journal of Medical Genetics

Bloch, M. and Adam, S. and Wiggins, S. and Huggins, M. and Hayden, M.R.

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

Huggins, M. and Bloch, M. and Wiggins, S. and Adam, S. and Suchowersky, O. and Trew, M. and Klimek, M. and Greenberg, C.R. and Eleff, M. and Thompson, L.P. and Knight, J. and MacLeod, P. and Girard, K. and Theilmann, J. and Hedrick, A. and Hayden, M.R.

DOI: 10.1002/ajmg.1320420417

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

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.

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

American Journal of Human Genetics

M. Huggins, M. Bloch, S. Kanani, O. Quarrell, J. Theilmann, A. Hedrick, B. Dickens, A. Lynch and M.R. Hayden. Ethical and legal dilemmas arising during predictive testing for adult-onset disease: The experience of Huntington Disease. Am J Hum Genet 47:4-12 (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

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.

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