- Overview
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I am a researcher, educator, manager, and nurse. The common threads throughout my career have been a desire to improve access, equity, and quality of family-centred clinical care; and my interest in the relationship dynamics between consumers and providers of health care.
Currently co-leading various GELS projects relating to genomics, decisional science, health economics, shared decision-making, and family-oriented research. E.g. DECIDE project: an interactive online educational tool and decision aid for families making genomic sequencing choices; SCOPE project: development and testing of a cost calculator for families' costs of caring for a child with developmental disabilities; OPTION project: assessment of the degree which genetic counselors practice shared decision-making.
- Publications
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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
DOI: 10.1016/j.gim.2024.101173
2024Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1943
2024Genetic counselling resources in non-english languages: A scoping review
PEC Innovation
DOI: 10.1016/j.pecinn.2023.100135
2023A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1737
2023The 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
2022Correction 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
2022A personalized genomic results e-booklet, co-designed and pilot-tested by families
PEC Innovation
DOI: 10.1016/j.pecinn.2022.100039
2022After 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
2022The 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
2022Genome-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
2021Genetic 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
2021Development and Evaluation of Decision Aids to Guide Families’ Predictive Testing Choices for Children at Risk for Arrhythmia or Cardiomyopathy
Canadian Journal of Cardiology
Christian, S. and Welsh, A. and Yetman, J. and Birch, P. and Bartels, K. and Burnell, L. and Curtis, F. and Huculak, C. and Zahavich, L. and Arbour, L. and Marcadier, J. and Atallah, J.
DOI: 10.1016/j.cjca.2021.05.018
2021Far 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
2021Genetic counseling research and COVID-19: A lesson in resiliency
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1502
2021Utilization 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
2021Rapid 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. and Tooman, L. 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 Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/jgc4.1353
2021Correction 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
2021Out-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
2021The 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
06/2020Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review (Genetics in Medicine, (2020), 22, 9, (1437-1449), 10.1038/s41436-020-0825-2)
Genetics in Medicine
Dragojlovic, N. and Borle, K. and Kopac, N. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Nisselle, A. and Elliott, A.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1038/s41436-020-0903-5
2020The 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
2020Assessing 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
2019Assessing 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
2019Indigenous Peoples and genomics: Starting a conversation
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1073
2019Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Sellmer, L. and Farschtschi, S. and Marangoni, M. and Heran, M.K.S. and Birch, P. and Wenzel, R. and Mautner, V.-F. and Friedman, J.M.
DOI: 10.1186/s13023-018-0811-9
2018Pharmacogenomics and e-learning: evaluation of an online tool to improve knowledge among practicing nurses
Nurse Education Today
2017Survey of BC Physicians: Exploring current knowledge and impact of genomic technologies on clinical practice
UBC Medical Journal
2017Non-optic glioma in adults and children with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Sellmer, L. and Farschtschi, S. and Marangoni, M. and Heran, M.K.S. and Birch, P. and Wenzel, R. and Friedman, J.M. and Mautner, V.-F.
DOI: 10.1186/s13023-017-0588-2
2017Development and pilot testing of a tool to calculate parental and societal costs of raising a child with intellectual disability
Journal of Intellectual and Developmental Disability
Genereaux, D. and Bansback, N. and Birch, P.
DOI: 10.3109/13668250.2015.1087479
2016Parents' 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
2016DECIDE: 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
2016Comparing 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
2016Interactive e-counselling for genetics pre-test decisions: Where are we now?
Clinical Genetics
Birch, P.H.
DOI: 10.1111/cge.12430
2015Costs of caring for children with an intellectual developmental disorder
Disability and Health Journal
Genereaux, D. and Van Karnebeek, C.D.M. and Birch, P.H.
DOI: 10.1016/j.dhjo.2015.03.011
2015Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1
American Journal of Medical Genetics, Part A
Jett, K. and Nguyen, R. and Arman, D. and Birch, P. and Chohan, H. and Farschtschi, S. and Fuensterer, C. and Kluwe, L. and Friedman, J.M. and Mautner, V.F.
DOI: 10.1002/ajmg.a.37068
2015The costs of caring: calculating hte parental and societal costs of raising a child with intellectual disability
Canadian Association of Genetic Counsellors Annual Meeting
2014Incidental 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
2014Autonomy 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
2014Can we MOOC Genomics Medicine? INTEGRAL's Asynchronous, Scenario-Based eLearning for Health Professionals
E-Hits (eHealth and Innovative Technology Showcase)
2014Paternalism 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
2013Genetics 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
2013The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics, Part A
Armstrong, L. and Jett, K. and Birch, P. and Kendler, D.L. and Mckay, H. and Tsang, E. and Stevenson, D.A. and Hanley, D.A. and Egeli, D. and Burrows, M. and Friedman, J.M.
DOI: 10.1002/ajmg.a.36001
2013Quality of life in NF1
Neurofibromatosis Type 1: Molecular and Cellular Biology
DOI: 10.1007/978-3-642-32864-0_8
2012Valuing gene testing in children with possible neurofibromatosis 1
Clinical Genetics
Tsang, E. and Birch, P. and Friedman, J.M.
DOI: 10.1111/j.1399-0004.2011.01801.x
2012"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
2012MIA is a potential biomarker for tumour load in neurofibromatosis type 1
BMC Medicine
Kolanczyk, M. and Mautner, V. and Kossler, N. and Nguyen, R. and Kühnisch, J. and Zemojtel, T. and Jamsheer, A. and Wegener, E. and Thurisch, B. and Tinschert, S. and Holtkamp, N. and Park, S.-J. and Birch, P. and Kendler, D. and Harder, A. and Mundlos, S. and Kluwe, L.
DOI: 10.1186/1741-7015-9-82
2011Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Tsang, E.S. and Birch, P. and Friedman, J.M. and Johnston, D. and Tucker, T. and Armstrong, L.
DOI: 10.1007/s00784-009-0361-6
2010Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics, Part A
Elefteriou, F. and Kolanczyk, M. and Schindeler, A. and Viskochil, D.H. and Hock, J.M. and Schorry, E.K. and Crawford, A.H. and Friedman, J.M. and Little, D. and Peltonen, J. and Carey, J.C. and Feldman, D. and Yu, X. and Armstrong, L. and Birch, P. and Kendler, D.L. and Mundlos, S. and Yang, F.-C. and Agiostratidou, G. and Hunter-Schaedle, K. and Stevenson, D.A.
DOI: 10.1002/ajmg.a.33045
2009Detection 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
2009Parental perceived value of a diagnosis for Intellectual Disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID
American Journal of Medical Genetics, Part A
Makela, N.L. and Birch, P.H. and Friedman, J.M. and Marra, C.A.
DOI: 10.1002/ajmg.a.33050
2009Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
BMC Bioinformatics
Baross, ?. and Delaney, A.D. and Li, H.I. and Nayar, T. and Flibotte, S. and Qian, H. and Chan, S.Y. and Asano, J. and Ally, A. and Cao, M. and Birch, P. and Brown-John, M. and Fernandes, N. and Go, A. and Kennedy, G. and Langlois, S. and Eydoux, P. and Friedman, J.M. and Marra, M.A.
DOI: 10.1186/1471-2105-8-368
2007Increased dental caries in people with neurofibromatosis 1
Clinical Genetics
Tucker, T. and Birch, P. and Savoy, D.M. and Friedman, J.M.
DOI: 10.1111/j.1399-0004.2007.00886.x
2007Associations of osseous abnormalities in neurofibromatosis
American Journal of Medical Genetics, Part A
Alwan, S. and Armstrong, L. and Joe, H. and Birch, P.H. and Szudek, J. and Friedman, J.M.
DOI: 10.1002/ajmg.a.31754
2007Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
American Journal of Human Genetics
Friedman, J.M. and Baross, ?. and Delaney, A.D. and Ally, A. and Arbour, L. and Asano, J. and Bailey, D.K. and Barber, S. and Birch, P. and Brown-John, M. and Cao, M. and Chan, S. and Charest, D.L. and Farnoud, N. and Fernandes, N. and Flibotte, S. and Go, A. and Gibson, W.T. and Holt, R.A. and Jones, S.J.M. and Kennedy, G.C. and Krzywinski, M. and Langlois, S. and Li, H.I. and McGillivray, B.C. and Nayar, T. and Pugh, T.J. and Rajcan-Separovic, E. and Schein, J.E. and Schnerch, A. and Siddiqui, A. and Van Allen, M.I. and Wilson, G. and Yong, S.-L. and Zahir, F. and Eydoux, P. and Marra, M.A.
DOI: 10.1086/507471
2006Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
American Journal of Medical Genetics
Khosrotehrani, K. and Bastuji-Garin, S. and Riccardi, V.M. and Birch, P. and Friedman, J.M. and Wolkenstein, P.
DOI: 10.1002/ajmg.a.30394
2005Faceturs predictifs d'aggravation et de developpement d'une neoplasie chez le enfants atteints de neurofibromatose de type 1: suivi d'une cohorte pediatrique de 563 patients
Journees Dermatolgiques de Paris
2005Facteurs predictifs de mortalite au cours de la neurofibromatose 1: Etude d'une cohorte de 703 cas
Journees Dermatolgiques de Paris
2004Utility and Limitations of Genetic Disease Databases in Clinical Genetics Research: A Neurofibromatosis 1 Database Example
American Journal of Medical Genetics - Seminars in Medical Genetics
Birch, P. and Friedman, J.M.
DOI: 10.1002/ajmg.c.30007
2004Genital tract and plasma human immunodeficiency virus viral load throughout the menstrual cycle in women who are infected with ovulatory human immunodeficiency virus
American Journal of Obstetrics and Gynecology
Money, D.M. and Arikan, Y.Y. and Remple, V. and Sherlock, C. and Craib, K. and Birch, P. and Burdge, D.R.
DOI: 10.1067/mob.2003.65
2003Erratum: Genital tract and plasma human immunodeficiency virus viral load throughout the menstrual cycle in ovulatory women who are infected with human immunodeficiency virus (American Journal of Obstetrics and Gynecology (2003) 188 (122-128))
American Journal of Obstetrics and Gynecology
Money, D.M. and Arikan, Y.Y. and Remple, V. and Sherlock, C. and Craib, K. and Birch, P. and Burdge, D.R.
2003Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)
Neurology
Gutmann, D.H. and Rasmussen, S.A. and Wolkenstein, P. and MacCollin, M.M. and Guha, A. and Inskip, P.D. and North, K.N. and Poyhonen, M. and Birch, P.H. and Friedman, J.M.
DOI: 10.1212/WNL.59.5.759
2002Vertebral scalloping in neurofibromatosis type 1: A quantitative approach
Canadian Journal of Surgery
Kwok, E.S.H. and Sawatzky, B. and Birch, P. and Friedman, J.M. and Tredwell, S.J.
2002Associations of clinical features in neurofibromatosis 1 (NF1)
Genetic Epidemiology
Szudek, J. and Birch, P. and Riccardi, V.M. and Evans, D.G. and Friedman, J.M.
DOI: 10.1002/1098-2272(200012)19:43.0.CO;2-N
2000Growth in North American white children with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
Szudek, J. and Birch, P. and Friedman, J.M. and Burke, W. and Bennett, R. and de Campos, J.M. and Korf, B. and Krause, W. and Uhas, K. and Niimura, M. and Inaba, Y. and North, K. and Ortenberg, J. and der Kaloustian, V. and Poyhonen, M. and Rubenstein, A. and Short, P. and Bove, K. and Stine, S. and Nicholson, L. and Tenconi, R. and Zackai, E. and Carey, J. and Viskochil, D. and Bochkov, N. and Schorry, E. and Tinschert, S. and Kelly, T. and Klein, J. and Piynick, E. and Colley, A. and Schulke, M. and Signorini, M. and Wolkenstein, P. and Danek, A.
DOI: 10.1136/jmg.37.12.933
2000Growth charts for young children with neurofibromatosis 1 (NF1) (multiple letters)
American Journal of Medical Genetics
Szudek, J. and Birch, P. and Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(20000529)92:33.0.CO;2-J
2000Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
American Journal of Medical Genetics
Lin, A.E. and Birch, P.H. and Korf, B.R. and Tenconi, R. and Niimura, M. and Poyhonen, M. and Uhas, K.A. and Sigorini, M. and Virdis, R. and Romano, C. and Bonioli, E. and Wolkenstein, P. and Pivnick, E.K. and Lawrence, M. and Friedman, J.M.
DOI: 10.1002/1096-8628(20001113)95:23.0.CO;2-0
2000Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)
Neurology
M. E. Baser and P. H. Birch and D. G. R. Evans and J. M. Friedman and J. H. Tonsgard
DOI: 10.1212/wnl.52.7.1517-d
04/1999Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1) [5] (multiple letters)
Neurology
Baser, M.E. and Birch, P.H. and Evans, D.G.R. and Friedman, J.M. and Tonsgard, J.H.
1999Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
American Journal of Medical Genetics
Stevenson, D.A. and Birch, P.H. and Friedman, J.M. and Viskochil, D.H. and Balestrazzi, P. and Boni, S. and Buske, A. and Korf, B.R. and Niimura, M. and Pivnick, E.K. and Schorry, E.K. and Short, M.P. and Tenconi, R. and Tonsgard, J.H. and Carey, J.C.
DOI: 10.1002/(SICI)1096-8628(19990611)84:53.0.CO;2-1
1999An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1
Neuropediatrics
Friedman, J.M. and Birch, P.
DOI: 10.1055/s-2007-973687
1997Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
American Journal of Medical Genetics
Friedman, J.M. and Birch, P.H.
DOI: 10.1002/(SICI)1096-8628(19970516)70:23.0.CO;2-U
1997Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds
Human Genetics
Gorski, S.M. and Adams, K.J. and Birch, P.H. and Chodirker, B.N. and Greenberg, C.R. and Goodfellow, P.J.
DOI: 10.1007/BF00202859
1994Carbamazepine poisoning in children
Pediatric Emergency Care
Macnab, A.J. and Birch, P. and Macready, J.
DOI: 10.1097/00006565-199308000-00003
1993National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
Friedman, J.M. and Birch, P. and Greene, C. and Berry, S. and King, R. and Burke, W. and Bennett, R. and De Campos, J.M. and Huson, S. and Korf, B. and Krause, W. and Armfield, K. and Niimura, M. and Inaba, Y. and North, K. and Ortenberg, J. and Der Kaloustian, V. and Poyhonen, M. and Rubenstein, A.
DOI: 10.1002/ajmg.1320450121
1993The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1
American Journal of Human Genetics
1992The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGKI and DXYSI
American Journal of Human Genetics
1992 - Research
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Current Projects
The Friedman Lab’s long-term neurofibromatosis (NF) research program works to improve understanding of the natural history of NF and the pathogenetic mechanisms underlying it. This includes studies of the cardiovascular and orthopedic complications, the clinical course of optic gliomas and other brain tumours, and other manifestations of the condition. Supporting quality of life, and providing optimal clinical care is an important issue for families with NF.
Several other research projects focus on patient-centred care. The first relates to health economics, particularly the out-of-pocket costs to families , and the non-medical societal costs of caring for children with intellectual disabilities. Surprisingly, these cost data did not previously exist in Canada and are poorly studied elsewhere in the world. We have developed, tested, and published an online tool to capture families’ and society’s costs of caring for children with developmental challenges and other conditions. In this way we can assess the impact of introducing new tests or treatments for these children.
Our lab’s involvement in genome-wide sequencing provides the opportunity to assess the best ways to support families’ decisions regarding genomic testing: 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 user’s 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.Grants2014-2015 Principal Applicant “Diagnosing the Causes of Complex Intellectual Disability
a decision support tool for families Rare Disease Foundation, $3,500
2013-2014 Principal Applicant DECIDE-Genomics
2013-2015 Co-investigator Assessing Shared Decision Making in Genetic Counselling of High-Risk Pregnancies APOGEE/CanGene, $25,000. PI
J.M Friedman
Does Genome-Wide Sequencing Result in Cost Savings to Healthcare, Families and Society?” Rare Disease Foundation, $3,500.
2013-2014 Principal Applicant Costs of Caring for Children with Rare Diseases Rare Disease Foundation, $3,500
2015-2016 Principal Applicant What is the prevalence and natural history of optic-and non-optic glioma in adults with neurofibromatosis 1 (NF1)? Rare Disease Foundation, $3,500
Research Group MembersShelin Adam, Investigator and Research Genetic Counsellor, BC Children's Hospital
Taghrid Aloraini, Graduate Research Assistant
Sura Alwan, Bilingual Arabic-speaking Research Coordinator
Iris Caglayan, Research Assistant
Jan Friedman, Investigator, BC Children's Hospital
Colleen Guimond, Genetic Counsellor
Jessica Ha
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
Shanik Vij, Research Assistant
Congratulations to the 2023 UBC Faculty of Medicine Award recipients!
Congratulations to the BC Children’s Hospital Research Institute investigators and staff members who are recognized in the 2023 UBC Faculty of Medicine Awards!
