• Birch, Patricia

    Titles

    Investigator, BC Children's Hospital
    Clinical Associate Professor, Department of Medical Genetics, University of British Columbia
    Research Nurse
    Research Manager

    Degrees / Designations
    BSc Physiology; MSc Nursing
    Primary Area of Research
    Evidence to Innovation
    Secondary Area(s) of Research
    Clinical & Community Data, Analytics & Informatics
    Clinical Practice, Outcomes & Innovation
    Phone
    604-875-2000 Ext. 5622
    Fax
    Lab Phone
    Assistant
    Liza Mak
    Assistant Phone
    04-875-2000 ext 5626
    Mailing Address

    BC Children's Hospital
    4500 Oak Street 
    Room C330
    Vancouver, BC, V6H 3N1

    Affiliate Websites
    friedmanlab.org

     

    Research Areas

    Clinical genetics and genomics care; neurofibromatosis clinical research; healthcare equity.

    Summary
    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. 

    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.
    Selected Publications
    • Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM.  “I want to know what’s in Pandora’s box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.  Am J Med Genet A 158A(10):2519-25, 2012.

    • Birch P and Friedman J.M.  Quality of Life in NF1, chapter in NF1: Molecular and Cellular Biology (Upadhyahya M, Cooper D, editors).  Springer-Verlag, Berlin Heidelberg 2012, pp93-104.

    •  Lohn Z, Adam S, Birch PH, Townsend A, Friedman JM.  Genetics Professionals’ Perspectives on Reporting Incidental Findings from Clinical Genomic Sequencing. Am J Med Genet A 161(3): 542-0, 2013.

    • Townsend A, Birch PH, Adam S, Friedman JM.  Paternalism and the ACMG recommendations on genomic incidental findings:   Patients seen and not heard. Genetics in Medicine 15(9):751-2, 2013.

    • Townsend A, Rousseau F, Friedman JM, Adam S, Lohn Z, Birch P.  Autonomy and the Patient’s right ‘not to know’ in whole genomic sequencing. European Journal of Human Genetics 22(1):6, 2014.

    • Birch PH.  Interactive e-counselling for genetics pre-test decisions. Where are we now?  Clinical Genetics 87(3):209-17, 2015.

    • Genereaux D, van Karnebeek CDM, Birch PH. Costs of caring for children with an intellectual developmental disorder. Disability and Health Journal. 2015 April 11. (Epub ahead of print).

    • Li Karen, Birch PH, Garrett B, MacPhee M, Adam S, Friedman JM.  Parents’ Perspectives on Supporting their Decision-making in Genome-wide Sequencing. Journal of Nursing Scholarship 48(3):265-75, 2016. doi: 10.1111/jnu.12207

    • Vortel M, Adam S, Port-Thompson AV, Friedman JM, Grande SW, Birch PH. Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling. Patient Education and Counseling. Mar 24, 2016. pii: S0738-3991(16)30146-X. doi: 10.1016/j.pec.2016.03.024. [Epub ahead of print]

    • Birch PH, Adam S, Bansback N, Coe RR, Hicklin J, Lehman A, Li KC, Friedman JM. DECIDE: a decision support tool to facilitate parents’ choices regarding genome-wide sequencing.  Journal of Genetic Counseling May 23, 2016. [Epub ahead of print] DOI: 10.1007/s10897-016-9971-8 
    Grants

    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 

    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.

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

    2013-2014
    Principal Applicant
    Costs of Caring for Children with Rare Diseases
    Rare Disease Foundation, $3,500 

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

    2012-2014
    Co-investigator
    Development and Evaluation of a Decision Aid for Genomic Sequencing
    APOGEE/CanGene, $25,000. PI: J.M Friedman

    2013-2014
    Principal Applicant
    Genomics Applications for Physicians Project: Creation of two online eLearning
    Continuing Medical Education Courses on Genomics for BC’s Physicians.
    British Columbia Clinical Genomics Network. $20,000

    2010-2012
    Co-investigator
    Next Generation Sequencing: Towards guidelines for reporting incidental findings
    APOGEE-Net CanGèneTest, $25,000. PI: J.M Friedman

    Honours & Awards
    Research Group Members

    Dr. Jan Friedman- Lab Director