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.


Indigenous Peoples and genomics: Starting a conversation.
Journal of genetic counseling
Morgan J and Coe RR and Lesueur R and Kenny R and Price R and Makela N and Birch PH
DOI: 10.1002/jgc4.1073
PubMed: 30629780

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors.
Journal of genetic counseling
Birch PH and Adam S and Coe RR and Port AV and Vortel M and Friedman JM and Légaré F
DOI: 10.1007/s10897-018-0285-x
PubMed: 30109450

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
Journal of genetic counseling
Adam S and Birch PH and Coe RR and Bansback N and Jones AL and Connolly MB and Demos MK and Toyota EB and Farrer MJ and Friedman JM
DOI: 10.1007/s10897-018-0281-1
PubMed: 30033481

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.
Orphanet journal of rare diseases
DOI: 10.1186/s13023-018-0811-9
PubMed: 29685181

Non-optic glioma in adults and children with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Laura Sellmer and Said Farschtschi and Marco Marangoni and Manraj K. S. Heran and Patricia Birch and Ralph Wenzel and Jan M. Friedman and 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 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

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

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

Costs of caring for children with an intellectual developmental disorder
Disability and Health Journal
Dallas Genereaux and Clara D.M. van Karnebeek and 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 and Nick Bansback and 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 and Rosa Nguyen and Darian Arman and Patricia Birch and Harleen Chohan and Said Farschtschi and Carsten Fuensterer and Lan Kluwe and Jan M. Friedman and Victor F. Mautner
DOI: 10.1002/ajmg.a.37068

Interactive e-counselling for genetics pre-test decisions: where are we now?
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 and Shelin Adam and Patricia H. Birch and 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 and Kimberly Jett and Patricia Birch and David L. Kendler and Heather McKay and Erica Tsang and David A. Stevenson and David A. Hanley and Deetria Egeli and Melonie Burrows and J.M. Friedman
DOI: 10.1002/ajmg.a.36001

Incidental findings from clinical genome-wide sequencing: a review.
Journal of genetic counseling
Lohn Z and Adam S and Birch PH and Friedman JM
DOI: 10.1007/s10897-013-9604-4
PubMed: 23709124

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

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

“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

Quality of Life in NF1
Neurofibromatosis Type 1
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 and P Birch and 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 and Patricia Birch and Jan M. Friedman and Douglas Johnston and Tracy Tucker and 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 and Patricia H. Birch and Jan M. Friedman and 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 and Mateusz Kolanczyk and Aaron Schindeler and David H. Viskochil and Janet M. Hock and Elizabeth K. Schorry and Alvin H. Crawford and Jan M. Friedman and David Little and Juha Peltonen and John C. Carey and David Feldman and Xijie Yu and Linlea Armstrong and Patricia Birch and David L. Kendler and Stefan Mundlos and Feng-Chun Yang and Gina Agiostratidou and Kim Hunter-Schaedle and 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 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

Increased dental caries in people with neurofibromatosis 1
Clinical Genetics
T Tucker and P Birch and DM Savoy and 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 and L. Armstrong and H. Joe and P.H. Birch and J. Szudek and 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 and Allen D Delaney and H Irene Li and Tarun Nayar and Stephane Flibotte and Hong Qian and Susanna Y Chan and Jennifer Asano and Adrian Ally and Manqiu Cao and Patricia Birch and Mabel Brown-John and Nicole Fernandes and Anne Go and Giulia Kennedy and Sylvie Langlois and Patrice Eydoux and JM Friedman and 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 and Sylvie Bastuji-Garin and Vincent M. Riccardi and Patricia Birch and Jan M. Friedman and 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

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

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

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

Vertebral scalloping in neurofibromatosis type 1: a quantitative approach
Journal Canadien de Chirurgie

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

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

Growth in North American white children with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
DOI: 10.1136/jmg.37.12.933

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
American Journal of Medical Genetics
Angela E. Lin and Patricia H. Birch and Bruce R. Korf and Romano Tenconi and Michihito Niimura and Minna Poyhonen and Kim Armfield Uhas and Mauro Sigorini and Raffaele Virdis and Corrado Romano and Eugenio Bonioli and Pierre Wolkenstein and Eniko K. Pivnick and Marcella Lawrence and J.M. Friedman and 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 and Patricia H. Birch and J.M. Friedman and David H. Viskochil and Paolo Balestrazzi and Stefania Boni and Annegret Buske and Bruce R. Korf and Michihito Niimura and Eniko K. Pivnick and Elizabeth K. Schorry and M. Priscilla Short and Romano Tenconi and James H. Tonsgard and 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 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

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
American Journal of Medical Genetics
J. M. Friedman and 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 and 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 and KarenJ. Adams and PatriciaH. Birch and BernardN. Chodirker and CherylR. Greenberg and 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 and Patricia Birch and Carol Greene and 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


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

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