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.


Non-optic glioma in adults and children with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Jan M. Friedman, Victor-Felix Mautner
DOI: 10.1186/s13023-017-0588-2

Pharmacogenomics and e-learning: evaluation of an online tool to improve knowledge among practicing nurses
Nurse Education Today

Survey of BC Physicians: Exploring current knowledge and impact of genomic technologies on clinical practice
UBC Medical Journal

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

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

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

Costs of caring for children with an intellectual developmental disorder
Disability and Health Journal
Dallas Genereaux, Clara D.M. van Karnebeek, Patricia H. Birch
DOI: 10.1016/j.dhjo.2015.03.011

Development 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
Dallas Genereaux, Nick Bansback, Patricia Birch
DOI: 10.3109/13668250.2015.1087479

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1
American Journal of Medical Genetics Part A
Kimberly Jett, Rosa Nguyen, Darian Arman, Patricia Birch, Harleen Chohan, Said Farschtschi, Carsten Fuensterer, Lan Kluwe, Jan M. Friedman, Victor F. Mautner
DOI: 10.1002/ajmg.a.37068

Interactive e-counselling for genetics pre-test decisions: where are we now?Interactive e-counselling for genetics pre-test decisions
Clinical Genetics
P.H. Birch
DOI: 10.1111/cge.12430

The costs of caring: calculating hte parental and societal costs of raising a child with intellectual disability
Canadian Association of Genetic Counsellors Annual Meeting

Can we MOOC Genomics Medicine? INTEGRAL's Asynchronous, Scenario-Based eLearning for Health Professionals
E-Hits (eHealth and Innovative Technology Showcase)

Development and pilot testing of a tool to calculate parental and societal costs of raising a child with intellectual disability
Pacific Northwest Genetics Exchange

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

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics Part A
Linlea Armstrong, Kimberly Jett, Patricia Birch, David L. Kendler, Heather McKay, Erica Tsang, David A. Stevenson, David A. Hanley, Deetria Egeli, Melonie Burrows, J.M. Friedman
DOI: 10.1002/ajmg.a.36001

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

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

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

Quality of Life in NF1
Neurofibromatosis Type 1: Molecular and Cellular Biology
Patricia Birch and J. M. Friedman
DOI: 10.1007/978-3-642-32864-0_8

Valuing gene testing in children with possible neurofibromatosis 1
Clinical Genetics
E Tsang, P Birch, JM Friedman
DOI: 10.1111/j.1399-0004.2011.01801.x

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Erica S. Tsang, Patricia Birch, Jan M. Friedman, Douglas Johnston, Tracy Tucker, Linlea Armstrong
DOI: 10.1007/s00784-009-0361-6

Parental 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
Nancy L. Makela, Patricia H. Birch, Jan M. Friedman, Carlo A. Marra
DOI: 10.1002/ajmg.a.33050

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics Part A
Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng-Chun Yang, Gina Agiostratidou, Kim Hunter-Schaedle, David A. Stevenson
DOI: 10.1002/ajmg.a.33045

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

Increased dental caries in people with neurofibromatosis 1
Clinical Genetics
T Tucker, P Birch, DM Savoy, JM Friedman
DOI: 10.1111/j.1399-0004.2007.00886.x

Associations of osseous abnormalities in Neurofibromatosis 1
American Journal of Medical Genetics Part A
S. Alwan, L. Armstrong, H. Joe, P.H. Birch, J. Szudek, J.M. Friedman
DOI: 10.1002/ajmg.a.31754

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
BMC Bioinformatics
Ágnes Baross, Allen D Delaney, H Irene Li, Tarun Nayar, Stephane Flibotte, Hong Qian, Susanna Y Chan, Jennifer Asano, Adrian Ally, Manqiu Cao, Patricia Birch, Mabel Brown-John, Nicole Fernandes, Anne Go, Giulia Kennedy, Sylvie Langlois, Patrice Eydoux, JM Friedman, Marco A Marra
DOI: 10.1186/1471-2105-8-368

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
American Journal of Medical Genetics Part A
Kiarash Khosrotehrani, Sylvie Bastuji-Garin, Vincent M. Riccardi, Patricia Birch, Jan M. Friedman, Pierre Wolkenstein
DOI: 10.1002/ajmg.a.30394

Faceturs 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

Facteurs predictifs de mortalite au cours de la neurofibromatose 1: Etude d'une cohorte de 703 cas
Journees Dermatolgiques de Paris

Utility and limitations of genetic disease databases in clinical genetics research: A neurofibromatosis 1 database example
American Journal of Medical Genetics
Patricia Birch, J.M. Friedman
DOI: 10.1002/ajmg.c.30007

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)
D. H. Gutmann, S. A. Rasmussen, P. Wolkenstein, M. M. MacCollin, A. Guha, P. D. Inskip, K. N. North, M. Poyhonen, P. H. Birch, J. M. Friedman
DOI: 10.1212/wnl.59.5.759

Vertebral scalloping in neurofibromatosis type 1: a quantitative approach
Journal Canadien de Chirurgie
Kwok, Edmund S.H. AND Sawatzky, Bonita AND Birch, Patricia AND Friedman, Jan M. AND Tredwell, Stephen J.

Growth charts for young children with neurofibromatosis 1 (NF1)
American Journal of Medical Genetics
Jacek Szudek, Patricia Birch, Jan M. Friedman
DOI: 10.1002/(sici)1096-8628(20000529)92:33.0.co;2-j

Growth in North American white children with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
J Szudek and P Birch and JM Friedman
DOI: 10.1136/jmg.37.12.933

Associations of clinical features in neurofibromatosis 1 (NF1)
Genetic Epidemiology
J. Szudek, P. Birch, V.M. Riccardi, D.G. Evans, J.M. Friedman
DOI: 10.1002/1098-2272(200012)19:43.3.co;2-e

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
American Journal of Medical Genetics
Angela E. Lin, Patricia H. Birch, Bruce R. Korf, Romano Tenconi, Michihito Niimura, Minna Poyhonen, Kim Armfield Uhas, Mauro Sigorini, Raffaele Virdis, Corrado Romano, Eugenio Bonioli, Pierre Wolkenstein, Eniko K. Pivnick, Marcella Lawrence, J.M. Friedman, the NNFF International Database Participants
DOI: 10.1002/1096-8628(20001113)95:23.0.co;2-0

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
American Journal of Medical Genetics
David A. Stevenson, Patricia H. Birch, J.M. Friedman, David H. Viskochil, Paolo Balestrazzi, Stefania Boni, Annegret Buske, Bruce R. Korf, Michihito Niimura, Eniko K. Pivnick, Elizabeth K. Schorry, M. Priscilla Short, Romano Tenconi, James H. Tonsgard, John C. Carey
DOI: 10.1002/(sici)1096-8628(19990611)84:53.0.co;2-1

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)
M. E. Baser, P. H. Birch, D. G. R. Evans, J. M. Friedman, J. H. Tonsgard
DOI: 10.1212/wnl.52.7.1517-d

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
American Journal of Medical Genetics
J. M. Friedman, Patricia H. Birch
DOI: 10.1002/(sici)1096-8628(19970516)70:23.0.co;2-u

An Association Between Optic Glioma and Other Tumours of the Central Nervous System in Neurofibromatosis Type 1
J. Friedman, P. Birch
DOI: 10.1055/s-2007-973687

Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds
Human Genetics
SharonM. Gorski, KarenJ. Adams, PatriciaH. Birch, BernardN. Chodirker, CherylR. Greenberg, PaulJ. Goodfellow
DOI: 10.1007/bf00202859

Carbamazepine poisoning in children
Pediatric Emergency Care
DOI: 10.1097/00006565-199308000-00003

National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
J. M. Friedman, Patricia Birch, Carol Greene, NNFF International Database Participants
DOI: 10.1002/ajmg.1320450121

The 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
Gorski, S M AND Adams, K J AND Birch, P H AND Friedman, J M AND Goodfellow, P J


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.


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

2013-2014 Principal Applicant DECIDE-Genomics: a decision support tool for families Rare Disease Foundation, $3,500

2013-2015 Co-investigator Assessing Shared Decision Making in Genetic Counselling of High-Risk Pregnancies APOGEE/CanGene, $25,000. PI: J.M Friedman

2014-2015 Principal Applicant “Diagnosing the Causes of Complex Intellectual Disability: Does Genome-Wide Sequencing Result in Cost Savings to Healthcare, Families and Society?” Rare Disease Foundation, $3,500.

Research Group Members

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