IMAGINE: complex genomic testing – keeping families at the core

Last modified by Logan Green on 2020/10/09 20:22

Provided by Children’s Healthcare Canada in collaboration with the CHILD-BRIGHT Network

The goal of IMAGINE is to find the underlying causes of atypical cerebral palsy in 100
families. Atypical cerebral palsy is an umbrella term for some types of muscular coordination problems, where, for various reasons, we think the cause is likely to be genetic. We use whole genome sequencing and metabolomics, together, to make diagnoses. Whole genome sequencing maps all the DNA that instructs our bodies how to function. Metabolomics look at the molecules that control our bodies’ systems. This is a long and complex study. We’ve had help from participant-families to co-develop supportive resources that meet families’ needs.

Following this webinar, participants will be able to:
- Explore the ability of genomic and metabolomic testing to determine a specific diagnosis for atypical cerebral palsy, and the importance of this information to families,
- Understand the importance of supporting families during complex studies, as well as when a genomic result has been provided, and
- Evaluate the efficacy of several tools co-developed with participant-families at
their suggestion.

The primary audience for this webinar includes:
Front-line service providers
Middle managers
Senior leaders
Policy makers
Patient/Family partners/advocates
Researchers

Click here to register for the webinar on November 4, 2020 from 11:00 AM to 12:00 PM EDT.

Colleen Guimond, is a certified genetic counsellor who completed her undergraduate degree in Biomedical and Health Science at the University of Guelph, and her Master's degree in Genetic Counselling at the University of British Columbia (UBC). She has worked in prenatal, pediatric and adult settings throughout her career. She currently holds three positions: one at Olive Fertility Centre, the second at BC Children's Hospital as part of a study for Whole Genome Sequencing in Atypical Cerebral Palsy, and the third as Co-lead for curriculum development for two courses in the UBC Certificate in Genomic Counselling and Variant Interpretation. At CHILD-BRIGHT, she is a project team member of the Diagnosis Using Integrated Metabolomics And Genomics In Neurodevelopment (IMAGINE) research project.

Patricia Birch is a researcher, educator, and manager with extensive clinical experience in genetic counselling and nursing, including outpost nursing. Common threads throughout her career have been a desire to improve access, equity, and quality of family-centred care. Patricia has studied the efficacy of different methods of delivering genetic counselling and recently co-designed and implemented an online, interactive, multi-lingual decision-aid to support families’ Whole Genome Sequencing (WGS) testing choices.  Her research also includes the first measurement of shared decision-making in genetic counselling.  She recently collaborated in a successful project to begin a conversation about the meaning of genomics for Indigenous peoples. At CHILD-BRIGHT, she is a project team member of the Diagnosis Using Integrated Metabolomics And Genomics In Neurodevelopment (IMAGINE) research project.

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Created by Logan Green on 2020/10/09 20:17