Scientific Program

WEDNESDAY SEPTEMBER 27 – SHORT COURSE

 

 

We Are All in This Together: Using Goal Co-construction to Facilitate Feedback Conversations
Wednesday September 27, 10:10 a.m. – 11:00 a.m.

 

Laura Farrell, BSC, MD, FRCPC Internal Medicine, M MEd, University of British Columbia

Samantha Stasiuk, MD, Centre for Health Education Scholarship (CHES)

Objectives:

At the end of this session, participants will be able to:

  • Identify feedback tensions in current culture of medical education.
  • Summarize how goal-oriented feedback might address these tensions.
  • Examine where goal-oriented feedback could be used in your own setting.
  • Construct a plan for using goal oriented feedback including how to address potential barriers.

As teachers, we are constantly being asked to ensure we give feedback to our learners. However, often times learners are unaware of receiving feedback, or feedback is mitigated to preserve relationship. Our workshop will discuss these and other tensions in the feedback literature. We will share findings from studies which took place at the Island Medical Program on using goal oriented feedback to address some of these tensions. Participants will be encouraged to explore their own teaching goals and how these goals help contribute to feedback discussions and ultimately an educational alliance. By the end of the workshop, we hope to provide participants with a framework to structure future feedback conversations with learners in their own teaching practice.

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Peer Supervision Groups: Taking Care of Each Other & Ourselves
Wednesday September 27, 11:00 a.m. – 11:45 a.m.

 

Colleen Caleshu, Stanford Center for Inherited Cardiovascular Disease

Objectives:

At the end of this session, participants will be able to:

  • List the goals of peer group supervision for genetic counselors.
  • Summarize the processes & elements that help create a successful genetic counselor supervision group.

In graduate school we benefit from case review and analysis with our supervisors, faculty, and fellow students. After graduation many genetic counselors yearn for this sort of professional support and skill development. Group peer supervision is one way for genetic counselors to continue their case-based growth after graduation. We will review the nature, goals, and structure of peer group supervision and explore the experience of two supervision groups in the San Francisco Bay Area. This presentation is aimed at genetic counselors and genetic counseling students.

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Teaching Psychosocial Complexity
Wednesday September 27, 11:45 a.m. – 12:30 p.m.

 

Susan Creighton, Clinical Associate Professor, University of British Columbia

Objectives:

At the end of this session, participants will be able to:

  • Apply tools for teaching students basic psychosocial elements of genetic counselling sessions.
  • Identify strategies for effectively teaching advanced psychosocial genetic counselling.

Students are often daunted by learning the psychosocial aspects of genetic counselling. This session will provide learners with concrete tools to demystify the basic elements of pschosocial assessment. More complex psychosocial assessments require different teaching modalities, which we will explore in an interactive manner. This information is targeted to genetic counsellors of all levels of experience.

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Training the Trainers: Understand and Utilize Appreciative Inquiry
Wednesday September 27, 2:45 p.m. – 3:30 p.m.

 

Jane Gair, BSc, PhD (Medical Genetics), Teaching Professor, University of Victoria, University of British Columbia

Objectives:

At the end of this session, participants will be able to:

  • Identify the value of accreditation and the role of practice based competencies in genetic counselling programs in North America and internationally.
  • Summarize the international landscape for genetic counsellor education and certification.
  • Design appropriate learning objectives for student development grounded in the practice based competencies.

Appreciative Inquiry is the discovery for the best in people, their organizations, and the relevant world around them. It is an art and practice of asking the unconditional positive questions that strengthen a system’s capacity to apprehend, anticipate and heighten positive potential. By focusing on appreciative inquiry with our students and trainees rather than problem solving, we can focus on the positive and this will lead to positive results. Students can then do more of what works.

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Practice Based Competencies – The Scaffold for Genetic Counsellor Education and Accreditation
Wednesday September 27, 2:45 p.m. – 3:30 p.m.

 

Jenna Scott, MS, CGC, Co-Director Masters Program in Genetic Counselling, University of British Columbia

Objectives:

At the end of this session, participants will be able to:

  • Recognize the value of accreditation and the role of practice based competencies in genetic counselling programs in North America and internationally.
  • Summarize the international landscape for genetic counsellor education and certification.
  • Create appropriate learning objectives for student development grounded in the practice based competencies.

Genetic counsellor education in North America is grounded in the development of practice based competencies (PBC’s) as defined by the Accreditation Council for Genetic Counseling and/or the Canadian Association of Genetic Counsellors. Accreditation of programs requires evidence that the curriculum supports the development of PBC’s. This peer review process ensures quality in educational programming, and assures students, employers, and educational institutions that graduates are prepared to enter the workforce. International PBC’s and standards for accreditation share key similarities, opening the door for global workforce opportunities. Aligning learning objectives with the PBC’s assists the instructor in developing learning tasks while ensuring learning is aligned with appropriate outcomes.

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How to Incorporate these Skills into Your Own Practice
Wednesday September 27, 4:00 p.m. – 5:00 p.m.

 

Nasim Monfared, MSc, Senior Genetic Counsellor, Flor Health Laboratories LLC

Sam Stasiuk, MD, CCFP, Maastricht University, Centre for Health Education Scholarships

Laura Farrell, BSC, MD, FRCOC, University of British Columbia

Colleen Caleshu, Lead Genetic Counsellor, Clinical Assistant Professor (Affiliated), Stanford Center for Inherited Cardiovascular Disease

Susan Creighton, Clinical Associate Professor, University of British Columbia

Jane Gair, BSc, PhD, (Medical Genetics) Teaching Professor, University of Victoria, University of British Columbia

Jenna Scott, MS, CGC, Co-Director Masters Program in Genetic Counselling UBC

Objectives:

How to incorporate these skills into your own practice:

  • Identify themes from workshop presentations that can be applied to your role as a clinician, student and peer supervisor.
  • Examine how to utilize genetic counselor core competencies in student and peer supervision.
  • Apply lessons from workshop presentations to specific teaching/supervisory case.
  • In this discussion session, participants will discuss how themes from the workshop presentations may be applied to their role as trainers/supervisors for both students and peers.

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    Cultural Competency
    Thursday September 28, 8:30 a.m. – 8:55 a.m.

     

    Marina White, Coast Salish Engagement Coordinator, First Nations Health Authority

    Objectives:

    At the end of this session, participants will be able to:

    • Provide information to delegates in regards to First Nations on Vancouver Island.
    • Gain an understanding of First Nations people. History of colonization and Indian Residential School. Delegates to gain an understanding of impact and affect of Indian Residential School. Where are we today? Resilience of First Nations people, family and/or community.
    • Provide hope and understanding of tools/resources in which are helpful to assist First Nations people to move forward in the present day.

    An overview of the material is to share the history of colonization and residential school. The impact and affect that colonization, residential school, sixties scoop have had on First Nations people. The most important message to carry to this conference is for an opportunity to listen, hear and gain an understanding how to communicate with First Nations people/families. Overall to instill the resilient inate being that First Nations people carry as a trait. Moving forward towards wellness and understanding of the most misunderstood population in Canada. First Nations people live with simplicity!

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    Reflections on a Decade of Genetic Counselling Within First Nations Communities
    Thursday September 28, 8:55 a.m. – 9:20 a.m.

     

    Sarah McIntosh, MSc, CCGC, Genetic Counsellor, University of British Columbia (Island Medical Program)

    Objectives:

    At the end of this session, participants will be able to:

    • Summarize key principles of carrying out genetic research in Indigenous communities.
    • Identify unique issues to consider when providing genetic counselling to Indigenous clients.
    • List next steps for enhancing cultural safety in your own practice.

    In this presentation, Sarah will discuss key ethical principles and approaches of carrying out community-based research with Indigenous communities, draw awareness to some unique issues that commonly arise during genetic counselling encounters, discuss barriers for Indigenous clients accessing healthcare and genetic services, and propose steps for enhancing cultural safety and accessibility for Indigenous clients. The target audience for this talk is genetic counsellors who engage with Indigenous clients, either in the research or clinical setting.

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    How to Work Effectively with Medical Interpreters
    Thursday September 28, 9:20 a.m. – 9:45 a.m.

     

    Young Joe, Bilinguals International

    Objectives:

    At the end of this session, participants will be able to:

    • List the effects of language barriers on health care.
    • Identify the importance of using professional interpreters rather than bilingual family members or staff.
    • Examine core competencies and skills needed to work effectively with interpreters in a multicultural clinical setting.
    • State the role of an interpreter in an inter-professional health care setting.

    Interpreting in healthcare settings is a professional skill. Medical interpreters are bilingual, trained in medical terminology and perform under a strict professional code of ethics, which ensures their services to be impartial and confidential. In this presentation, Young Joe, the first and the only certified medical interpreter in Canada will share her specialty and experience to enhance participants’ understanding of how to work with medical interpreters in multicultural clinical settings.

    Target audience: Genetic Counsellors and Students in Clinical Settings

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    Living with Uncertainty: When Genetic Testing Gives No Answers
    Thursday September 28, 2:00 p.m. – 2:35 p.m.

     

    Isabel Jordan, Board Chair, Rare Disease Foundation

    Objectives:

    At the end of this session, participants will be able to:

    • Identify the barriers to care faced by the undiagnosed patients/families in the rare disease community.
    • Evaluate whether patient/family centred supports are being provided in your practice.
    • Compare the experience of the undiagnosed & the rare/ultra-rare diagnosed patient/family.

    In the look-it-up-now world of computer-in-your-pocket instant gratification, what happens when the answers come up short? What do you do when a type-A family that is used to problem-solving finds their way to an impassible wall?

    Isabel Jordan will share her family’s medical journey through personal problem-solving to community advocacy and how that led to better care, a network of connected families and even a non-profit foundation. Sharing strategies with other families, partnering with health care providers and researchers may not have led to living with uncertainty, but it has at least led to sharing a slightly uncomfortable space with it.

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    Developing a New Genetic Counselling Program: The University of Manitoba Experience
    Thursday September 28, 2:35 p.m. – 3:00 p.m.

     

    Jessica Hartley, MS, CGC, Program Director, Genetic Counselling Program, Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Faculty of Health Sciences, University of Manitoba

    Objectives:

    At the end of this session, participants will be able to:

    • Examine the need for the development of a new genetic counselling training program in Canada.
    • Summarize the challenges and successes throughout the process in to implement and accredit an MSc in Genetic Counselling Program in Manitoba.
    • Hypothesize the future of genetic counsellor training in Canada.

    The University of Manitoba MSc Genetic Counselling Program was initiated in response to escalating need for flexible, highly trained genetic counsellors to provide advanced and personalized genomic health care in Manitoba and beyond. This session will explore the challenges and successes experienced as a result of the rigorous process undergone to establish a new MSc in Genetic Counselling Program. The target audience for this session is genetic counsellors interested in the education and advocacy.

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    Cancer Genetics – Alternative Modes of Service Delivery
    Thursday September 28, 3:30 p.m. – 4:30 p.m.

     

    Lauren Currie, MSc, CCGC, CGC, Genetic Counsellor, IWK Health Centre

    Jennifer Nuk, MSc CGC CCGC, Clinical Coordinator/Genetic Counsellor, BC Cancer Agency Hereditary Cancer Program

    Karen Panabaker, MSc, MSc, CGC, CCGC, Senior Genetic Counsellor, London Health Sciences Centre

    Objectives:

    At the end of this session, participants will be able to:

    • Define various cancer referral indications that warrant expedient cancer genetic risk assessment.
    • Summarize alternative service delivery models in cancer genetic counselling.
    • Compare various models relative to patient population and availability of multidisciplinary care.

    The availability of cancer panel testing and rapid turnaround times for results has caused the demand for expedient cancer genetic counselling to increase. In order to accommodate this growing demand, genetic counsellors are creating and adopting novel means of providing cancer genetic counselling services. This workshop will review some of these new models, including patient outcomes and lessons learned, and provide ample opportunity for sharing novel experiences of unique practice.

    The target audience includes primarily genetic counsellors who are currently providing cancer genetics services.

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    Tales from the “Dark Side”: On Becoming a Genetic Counsellor for Industry
    Thursday September 28, 3:30 p.m. – 4:30 p.m.

     

    Tina Babineau Sturk, MSc Genetic Counselling, CCGC, Genetic Diagnostic Specialist, LifeLabs Genetics

    Meena Mahey Kumar, B.Sc (Hons), MS, CGC, Sales Director, Canada, Blueprint Genetics

    Objectives:

    At the end of this session, participants will be able to:

    • Identify signs that you are ready for a change in your work life.
    • Contrast the differences in clinical vs customer support setting and how your skills overlap.
    • List tips on how to survive the transition and make the best of the isolation.

    This workshop will help you understand lab industry roles and the factors that indicate you are ready for a change. An honest account of “a day in the life” of a counsellor in an industry role will be provided with some suggestions on how to deal with the reactions of other colleagues and how to ensure you do not become a hermit.

    You will have the opportunity to identify skills you currently have that may be applicable to alternative roles.

    By providing a better understanding of what the “Dark Side” looks like, we may be able to collaborate and better support each other’s growth and development.

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    Risk Assessment for Pregnancies with Low Fetal Fraction
    Thursday September 28, 3:30 p.m. – 4:30 p.m.

     

    Risk Assessment for Pregnancies with Low Fetal Fraction

    Kate Gardiner, MSc, CGC, CCGC, Risk Assessment for Pregnancies with Low Fetal Fraction, LifeLabs

    Objectives:

    At the end of this session, participants will be able to:

    • Define a fetal-fraction based risk model to apply to low fetal-fraction NIPT results.
    • Differentiate between those pregnancies at an increased risk for abnormality following a low fetal fraction NIPT result and those without an increased risk.
    • Examine a fetal fraction-based risk score to assist in pregnancy management following a low fetal-fraction NIPT result.
    • Identify pregnancies at increased risk of miscarriage or chromosome abnormality following a low fetal-fraction NIPT result.

    Current literature suggests that patients who receive ‘no result’ due to low fetal fraction on non-invasive prenatal screening tests (NIPT) are at increased risk for chromosome abnormalities. Given this association, professional societies (e.g. ACOG) broadly recommend clinical follow up, including the option of diagnostic testing. It is well known that fetal fraction increases with gestational age and is inversely related to maternal weight. However, a model for adjusting aneuploidy risk based on fetal fraction, taking into consideration weight and gestational age, has not been published. Here we introduce such a model, the fetal fraction based risk score (FFBR).

    Target audience: prenatal genetic counsellors.

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    “Who’s Your Mommy?” A Case of Potential Non-maternity Detected by NIPT

    Katherine Hodson, M.Sc., CGC, CCGC, Genetic Counsellor, Dynacare Next

    Objectives:

    At the end of this session, participants will be able to:

    • Identify reasons for NIPT sample failure other than low fetal fraction.
    • Illustrate the importance of accurate clinical information in the generation of NIPT results.
    • List quality control metrics used in an NIPT platform.
    • Evaluate counselling issues encountered by the laboratory genetic counsellor, particularly when working with non- genetics.

    Non-invasive prenatal testing (NIPT) detects cell-free placental DNA in maternal blood for the purpose of fetal trisomy risk assessment. As with other DNA-based test, there is the possibility of unexpected findings. We describe a laboratory NIPT case in which the results and quality control metrics did not match the known information about the case, raising the possibility of non-maternity. This session will review the quality control metrics used in an NIPT platform, known biological factors with the potential to cause discordant or inconclusive results, and counselling issues encountered by the laboratory genetic counsellor, when working with a non-genetics physician population.

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    NIPT and Unexpected Findings: A Clinical Experience

    Kristen Miller, MS, CGC, CCGC, Genetic Counsellor, North York General Hospital

    Objectives:

    At the end of this session, participants will be able to:

    • To identify the difficulties in genetic counselling for unexpected results discovered by NIPT
    • To recognize the complexity of prenatal testing as our ability to test for more increases
    • To examine the impact of unexpected results on patient experience during pregnancy

    Non Invasive Prenatal Testing (NIPT) has become a popular screening test for pregnant women wishing to avoid invasive testing. Usually these results provide information related to the pregnancy and the indication why testing was ordered. However, sometimes we receive surprizing results, or findings that require additional investigations. This presentation will examine two cases of unexpected results discovered by NIPT. We will review the difficulties of unexpected NIPT results, their impact on genetic counselling, and the effect on case management and patient anxiety.

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    Living with our “Buzzy Bee”: Navigating Programs and Supports with a Child with Autism Spectrum Disorder
    Friday September 29, 10:30 a.m. – 11:15 a.m.

     

    Jeffrey MacCormack, Ph.D., Assistant Professor of Educational Psychology and Inclusion, University of Lethbridge

    Objectives:

    At the end of this session, participants will be able to:

    • Indicate some of the challenges that families with a child with autism spectrum disorder face when navigating health and education programs.
    • Examine the supports available for families with a child with autism spectrum disorder with a family- and child-centric perspective.

    The pressures facing families of children with autism spectrum disorder are tremendous. Chronic stress, anxiety, and frustration are descriptors that are often used to explain the lived experience of parents who seek to navigate systems of support. In this family- and child-centric talk, Dr. MacCormack will share his experiences as a father of a child with autism spectrum disorder and as an educator of exceptional students. Understanding the perspectives and experiences of parents as they navigate services can help develop positive working relationships with parents of students with special needs. Discussion and strategies for practice are included.

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    The SickKids Genome Clinic: Focus on the Search for Secondary Findings
    Friday September 29, 11:15 a.m. – 12:00 p.m.

     

    Nasim Monfared, MSc., Senior Genetic Counsellor, Flow Health Laboratories LLC

    Objectives:

    At the end of this session, participants will be able to:

    • Summarize the results of the search for secondary findings in a cohort of 100 pediatric patients undergoing whole genome sequencing.
    • Examine the practical considerations associated with a deliberate search for secondary findings in research setting.
    • Evaluate ethical considerations in reporting predictive variants in children.

    In this session I will discuss the results of a deliberate search for secondary findings in a cohort of 100 pediatric patients undergoing whole genome sequencing (WGS) as part of the SickKids Genome clinic. I will review the ethical considerations in returning secondary findings in children. I will discuss the likelihood of identifying such variants, and illustrate the practical and clinical implications of returning such findings using some specific examples.

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    Next-generation Sequencing & Variant Classification for Genetic Counsellors
    Friday September 29, 2:00 p.m. – 5:00 p.m.

     

    Deanna Alexis Carere, ScD, CGC, CCGC, Postdoctoral Fellow, McMaster University

    Objectives:

    At the end of this session, participants will be able to:

    • Summarize the molecular genetic and bioinformatics workflow for next-generation sequencing (panels, whole-exome, and whole-genome sequencing), including its unique strengths and limitations.
    • Identify tools and resources used in the classification of genetic variants identified through next-generation sequencing.
    • Apply the results of next-generation sequencing to clinical medical genetics care and counselling.

    In this interactive session, we will walk attendees through the technical aspects of next-generation sequencing (NGS), from sample processing through variant classification. Emphasis will be placed on the technical limitations of NGS, and how these should be considered in report interpretation. Next, we will provide advice on integrating NGS results into clinical care: for example, what should be the “next steps” upon receiving a negative or VUS report from NGS. Interactive case examples will demonstrate both the benefits, and common pitfalls, of relying on NGS for molecular diagnosis. The target audience is genetic counsellors working in clinical care or research.

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    Exploring Alternative Career Opportunities
    Friday September 29, 2:00 p.m. – 5:00 p.m.

     

    Chris Trevors, MS, CGC, National Director, Genetic Health Solutions, Dynacare

    Objectives:

    At the end of this session, participants will be able to:

    • Evaluate their professional and educational backgrounds and match them to possible career opportunities.
    • List the networking opportunities and strategies related to desired career opportunities.
    • Create a case for creation of a position within an organization and how to present it to prospective employers.

    This presentation aims to discuss the different categories of professional opportunities that exist for individuals with a genetic counselling background and help participants review their own professional and educational experiences to see which are a possible match. Recommendations on how gaps in skills or experience can be met along with suggestions on how to network and creat new professional opportunities.

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    Overcoming Barriers to Research
    Friday September 29, 2:00 p.m. – 5:00 p.m.

     

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    Looking for a stimulating and rewarding opportunity? Consider doing a clinical research project

    Clare A. Gibbons, MS, Genetic Counsellor, Research Manager, North York General Hospital

    Objectives:

    At the end of this session, participants will be able to:

    • Indicate what a genetic counsellor can gain by doing clinical research.
    • Examine the contribution of clinical research to genetic counselling practices.
    • Identify how to find inspiration for research projects topics.

    Being an investigator for a clinical research study requires time and energy so it can be hard to be motivated to take on this type of project. This presentation will explore how genetic counsellors can benefit from conducting clinical research. We will discuss how creating, implementing and completing a research projects can inspire genetic counsellors to learn new skills, create new professional opportunities and improve patient care.

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    Barriers to Research

    Robyn Roscoe, BSc, PMP, Director, Management and Administration, BC Cancer Agency Genome Sciences Centre

    Objectives:

    At the end of this session, participants will be able to:

    • Identify and Evaluate: Principles of project management, Project initiation, scope and risk assessment and Proposal preparation and identifying funding opportunities.

    Barriers to research can include challenges to organizing a project, including defining the scope and scale of the research questions, and then securing sufficient and appropriate funding. This presentation will look at defining a project and project scope, as well as consider risk assessment of the project, and then look at preparing a project proposal for submission to a funding competition such as CAGC’s Research Grant.

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    Getting Started and Gaining Momentum: Tips and Tricks to Help Initiate/Broaden Research Collaborations

    Setareh Ashtiani, MSc, CCGC, Genetic Counsellor, Alberta Health Services
    Prescilla Carrion, MSc, CGC, CCGC, Senior Research Genetic Counsellor, University of British Columbia

    Objectives:

    At the end of this session, participants will be able to:

    • Summarize tips and strategies for how to incorporate research into GC practice.
    • Compare experiences regarding challenges to engaging in research as a GC.
    • Identify opportunities for research contributions.

    To review tips and tricks offered by the CAGC Research Committee membership with respect to ways genetic counsellors can facilitate broader research involvement. This session will include using examples of personal experiences of GCs to help with building research collaborations and other creative solutions to conducting research, including a discussion of strategies that have been helpful. A panel discussion will ensue, with an opportunity for attendees to ask questions to the speakers and share their experiences. The target audience for this session would be any GC who is interested in either initiating, or expanding their research involvement.

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    The Power of Genome-Wide DNA Methylation: A Functional Tool for Classifying Genetic Mutations: Epigenetics
    Saturday September 30, 8:30 a.m. – 9:10 a.m.

     

    Sanaa Choufani, The Hospital for Sick Children

    Objectives:

    At the end of this session, participants will be able to:

    • Define epigenetic marks and their role in normal development and in the pathophysiology of genetic disorders.
    • Identify a range of human syndromes caused by mutations in epigenetic regulators or epigenes.
    • Examine how functional epigenetic studies could be used to classify variants of unknown significance.

    The presentation will provide an overview of the role of epigenetic mechanisms in controlling gene expression and their essential role in normal development and cellular function. It will provide examples of altered epigenetic regulation observed in many diseases including cancer and neurodevelopmental disorders. It will discuss the power of using epigenetic DNA methylation signatures as new approach to functionally annotate clinically relevant mutations and to interpret sequence variants of unknown significance.

    The target audience is genetic counselors.

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    Rapid WES in the NICU (RAPIDOMICS): Preliminary Results and Parental Experiences
    Saturday September 30, 9:10 a.m. – 9:50 a.m.

     

    Christèle du Souich, MSc, CCGC, CGC, Genetic Counsellor, BC Women’s Hospital

    Objectives:

    At the end of this session, participants will be able to:

    • Summarize the diagnostic hit rate in the RAPIDOMICS clinic.
    • Define parental motivation for pursuing exome sequencing (ES) in their child.
    • Compare parental motivations and attitudes towards ES between neonatal (RAPIDOMICS) and pediatric (CAUSES) families.

    RAPIDOMICS is a pilot program at BC Women’s Hospital that provides rapid exome sequencing (ES) in critically ill babies in the NICU (neonatal intensive care unit) with suspected genetic disorders. Research goals include demonstrating the clinical and economic feasibility and the clinical utility of ES as a first-tier clinical test for these patients. We are also evaluating parental perceptions and motivations regarding ES in NICU families. Preliminary ES results and parental attitudes and motivations towards ES testing in the NICU will be addressed during this talk.

    Target audience: individuals interested in genome wide sequencing and parental feelings about this type of testing in the NICU setting

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    Cancer gene discovery: germline and tumor sequencing
    Saturday September 30, 9:50 a.m. – 10:30 a.m.

     

    Intan Schraeder

    Sophie Sun

    Objectives:

    At the end of this session, participants will be able to:

    • Summarize the impact of use of NGS in germline and tumor on identification of cancer predisposition genes.
    • Examine the impact of incorporation of NGS technologies on patient surveillance, management and treatment.
    • Identify some challenges in clinical translation of NGS technologies in oncology clinics.

    In this session, use and impact of NGS technologies in tumor and germline in the field of oncology will be discussed. The presenters will review significant progress as well as some challenges associated with clinical implementation of NGS technologies in oncology service and the role of genetic counsellors, geneticists and oncologists in this process.

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    Lobbying for NIPT in British Columbia
    Saturday September 30, 11:00 a.m. – 11:40 a.m.

     

    Julie MacFarlane, MSc, CCGC, BC Prenatal Genetic Screening Program, Perinatal Services BC, Provincial Health Services Authority

    Objectives:

    At the end of this session, participants will be able to:

    • Illustrate how lobbying for and launching a new funded program takes considerable collaboration from multiple stakeholders.
    • Differentiate being patient-centric with all decisions, while being mindful of limited resources, is key.
    • Summarize how funded NIPT as a second tier test has had a significant impact on the choices women make when receiving a positive screen result.

    New funding for NIPT in BC became available in November 2015. It took almost 3 years of data analysis, proposal writing, and lobbying to multiple layers of the health care system in order to be successful. This process and its challenges will be presented. Once funded NIPT was granted, the BC Prenatal Genetic Screening Program (PGSP) launched a coordinated effort to add NIPT into the provincial screening model, and effectively educate ordering health care providers and their patients about NIPT eligibility and how to access testing. Screening, NIPT, and cytogenetics results are available to the PGSP from BC women who have participated in prenatal screening. Utilization and outcome data from the first 18 months of funded NIPT integrated in our public screening system will be presented.

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    Ocular Gene Therapy: Now and the Future
    Saturday September 30, 11:40 a.m. – 12:20 p.m.

     

    Stephanie Hoang, MSc, CGC, CCGC, Ocular Genetic Counsellor, Alberta Health Services/University of Alberta

    Objectives:

    At the end of this session, participants will be able to:

    • State the concepts of ocular gene therapy development and clinical trial implementation.
    • Differentiate the phases of clinical trials.
    • Formulate an opinion on the future of ocular clinical trials.
    • Construct a framework for discussion about (ocular gene therapy) clinical trial participation with your patients.

    In the course of reviewing gene therapy clinical trials for inherited eye diseases, I will discuss the preclinical studies as well as viral vector design and delivery involved. We will examine the various clinical trial phases and the relevance to your patients. Using my experience as the research genetic counsellor for the choroideremia gene therapy clinical trial, I will also present the complexities of clinical research protocol development, participant enrollment and managing patient expectations. By the end of the presentation, you should be able to recognize the key points to discuss with patients who are interested in ocular gene therapy clinical trial participation.

    Audience: clinical genetic counsellors

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    Living with LFS/Li-Fraumeni Syndrome
    Saturday September 30, 12:20 a.m. – 12:45 p.m.

     

    Chiquita Hessels, Canada Chapter Chair, Li-Fraumeni Syndrome Association;

    Krystal Jochumsen

    Objectives:

    This presentation will focus on my life, truly ‘living’ with LFS, and how a life altering syndrome affected the lives of our family and the 5 of us diagnosed with Li-Fraumeni Syndrome. The choices I’ve/we’ve made to educate ourselves, volunteer and be involved in the LFS community. The roles we play to educate others including our Doctors and Care-providers. It will also highlight my experiences with 2 incredible genetic counsellors and the role of a genetic counsellor from a patients perspective. I’ll describe free fact tools that are available to genetic counsellors (both in Canada and around the World), which can be used to help support and educate their patients.

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