Session Descriptions

WEDNESDAY SEPTEMBER 11 – SHORT COURSE

Emerging Treatments for Genetic Disease

 

THURSDAY SEPTEMBER 12

 

FRIDAY SEPTEMBER 13

 

SATURDAY SEPTEMBER 14

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The Future is (Almost) Here: Overview of Emerging Treatments for Genetic Conditions

Wednesday September 11, 8:15 – 9:15 a.m.

 

Heather Douglas, MSc MS CGC CCGC, Genetic Counsellor, Scarborough Health Network

 

Objectives:

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

  • Summarize the major types of emerging therapies for genetic conditions.
  • Discriminate between the therapies that are available clinically and those in research phase.
  • Indicate some potential limitations of therapies for genetic disease.

This session will provide an overview of emerging genetic therapies and will lay the foundation for the rest of the short course. The major types of genetic therapies will be introduced, including their benefits, limitations, and stage in development. Examples will be provided. Genetic counsellors working in clinic, research or laboratories are expected to benefit from this session, as will genetic counselling students.

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CRISPR/Cas9 – A Revolution in Gene Editing

Wednesday September 11, 9:15 – 10:00 a.m.

 

Dr. Barbara Triggs-Raine, PhD, Professor, University of Manitoba

 

Objectives:

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

  • Describe how CRISPR/Cas9 functions to edit specific areas of the genome.
  • List three risks associated with CRISPR/Cas9 gene editing.
  • Discuss the ethical dilemma created by potential CRISPR/Cas9 applications.

This presentation will discuss the discovery of CRISPR/Cas9 as a bacterial defense against bacteriophage infection. The learner will be familiarized with its RNA and protein components and how they are used to edit DNA. Their use and risks will be explained using examples we have been employed to generate mouse models. We will then explore the legality of editing in germ line and somatic cells in Canada. The status of CRISPR/Cas9 use in the international community will be discussed with reference to current calls for a moratorium on its use in embryos while regulations are established for its use.

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Huntington’s Disease – New Therapies

Wednesday September 11, 10:30 – 11:15 a.m.

 

Dr. Douglas Hobson, MD, University of Manitoba

 

Objectives:

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

  • Examine the typical presentation features of HD.
  • Identify the limitations of current therapies.
  • Compare and contrast the latest advances in disease modifying therapies for HD.

To date Huntington’s Disease is an autosomal dominantly inherited, relentless, progressive neurodegenerative disease, impacting patients and families and requiring multidisciplinary care. Symptoms including memory loss, movement disorders and mood abnormalities typically begin after child bearing age so the impact on the family is wide ranging. Although DNA testing can allow for early risk assessment, to date treatments are only symptomatic and are of short lasting benefit. We are at a stage now when major advances in disease modifying treatments are occurring and these advances will be the topics covered in this presentation.

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Regenerative Medicine Counselling – A GC’s Role in Educating on the Hype and Hope

Wednesday September 11, 11:15 – 12:00 p.m.

 

Jill Furnival, MSc CCGC, Regenerative Medicine Counsellor, Medcan

 

Objectives:

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

  • Identify the dangers; define the power of stem cell hype in the media and the risks of unproven cell therapies.
  • Examine the hope; discuss the status of stem cell clinical trials in Canada, therapeutic areas with the most promise, and the estimated timeline to clinical application.
  • Summarize a genetic counsellor’s role in educating patients on the hype and the hope.

Regenerative medicine is a promising and rapidly evolving field. By harnessing the power of stem cells, scientists are studying innovative ways to replace unhealthy cells, and rebuild and restore diseased body tissues. The therapeutic promise of stem cells is real (i.e.: there are hundreds of on-going clinical trials), but so are the risks of stem cell hype and stem cell tourism.

In this talk, I will share my experience as a regenerative medicine counsellor, and how I use genetic counselling to inform patients about the clinical readiness of evidence-based stem cell treatments and the dangers of unproven cell therapies.

Target audience: GCs practicing in any area, who are curious about non-traditional GC roles.

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In Utero Stem Cell Transplantation: Historical Context, Present State and the Future of Fetal Molecular Therapies

Wednesday September 11, 1:30 – 2:15 p.m.

 

Billie Lianoglou, LCGC, Genetic Counselor, University of California, San Francisco

 

Objectives:

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

  • Summarize the history of in utero stem cell transplantation.
  • List the risks and benefits of hematopoietic stem cell transplantation and the target diseases for which this therapy is currently offered.
  • Describe target diseases for applying both in utero stem cell transplantation and other fetal molecular therapies including gene therapy.

Historically, options for patients with a severe prenatal diagnosis have been limited to pregnancy termination or continuing with significant disease burden. Successful fetal intervention has been demonstrated for several conditions and with nearly 3,800 gene therapy trials listed in clinicaltrials.gov, prenatal providers beg the question of why wait until delivery? We aim to highlight emerging therapies in prenatal genetics.

We will detail past experience with molecular based in utero therapies, including in utero stem hematopoietic cell transplantation (IUHCT). We will then describe the first FDA approved clinical trial to perform in utero stem cell transplantation for fetal alpha thalassemia major.

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From Gene Discovery to New Therapies for Inherited Metabolic Disorders – Advances and Challenges

Wednesday September 11, 2:15 – 3:00 p.m.

 

Dr. Cheryl Rockman-Greenberg, M.D. C.M., Program in Genetics and Metabolism, Winnipeg Regional Health Authority

 

Objectives:

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

  • Identify the advances in gene discovery and development of new therapies for inherited metabolic disorders.
  • Illustrate how new drugs are evaluated for reimbursement in Canada using hypophosphatasia as one example.
  • Identify the different roles stakeholders working in the field of inherited metabolic disorders can play in achieving equity in access to new diagnostics and therapies.

The speaker will describe the dramatic advances in our ability to diagnose and treat inherited metabolic disorders but there is lack of equity for many with these rare disorders to access new diagnostics, inclusion in clinical trials and access to new therapies. These challenges will be illustrated using hypophosphatasia as an example where a successful new therapy has recently been approved. However we are confronted with the reality of incomplete or limited evidence regarding long-term efficacy and safety of new treatments such as for hypophosphatasia and many other inherited metabolic disorders to help inform policy makers and guide clinicians. A Made-In- Canada solution is needed.

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Clinical Trials for Spinal Muscular Atrophy (SMA)

Wednesday September 11, 3:30 – 4:15 p.m.

 

Dr. Edward Leung, MD FRCPC, Section Head, Pediatric Neurology, University of Manitoba

 

Objectives:

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

  • Recognize clinical presentation of spinal muscular atrophy.
  • Discuss pathophysiology in spinal muscular atrophy.
  • Describe current disease-modifying therapies in spinal muscular atrophy.
  • Discuss experimental disease-modifying therapeutic strategies in spinal muscular atrophy.

Spinal muscular atrophy is a devastating progressive neurodegenerative disease caused by reduced expression of SMN proteins due to SMN1 gene mutations. Novel experimental therapies, such as antisense oligonucleotide and small molecule therapies, can induce alternative splicing in SMN2 gene to enhance SMN protein production. Alternatively, AAV9 gene therapy can restore SMN protein production. The available clinical trials results for these therapies are reviewed with the audience, including geneticists and genetic counsellors.

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Panel Discussion

Wednesday September 11, 4:15 – 5:00 p.m.

 

Heather Douglas, MSc MS CGC CCGC, Genetic Counsellor, Scarborough Health Network

Jill Furnival, MSc CCGC, Regenerative Medicine Counsellor, Medcan

Dr. Edward Leung, MD FRCPC, Section Head, Pediatric Neurology, University of Manitoba

Billie Lianoglou, LCGC, Genetic Counselor, University of California, San Francisco

Parents of a child with Spinal Muscular Atrophy (SMA) undergoing new treatments will join this panel discussion.

 

Objectives:

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

  • Discuss new directions in which medical genetics is advancing.
  • Evaluate in what ways the genetic counselling scope of practice is changing in light of new therapies.

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Keynote Address: Re/pair: The Land, Our Bodies

Thursday September 12, 8:30 – 9:30 a.m.

 

Chelsea Vowel, BEd LLB, University of Alberta, Faculty of Native Studies

 

Objectives:

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

  • Describe historic and ongoing colonial violence in Indigenous communities and the many health outcomes of this legacy.
  • Link colonial violence to the often strained relationships between Indigenous peoples and healthcare providers.
  • Begin to plan the long process of repair and collaboration with medically marginalized communities.

Repair requires: identifying the sources of damage, ending the harm, and allowing for healing to take plac. When working with Indigenous peoples, a crucial part of this process is re/pairing the link between the land, and our bodies.

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Equity versus Equality: The Social Context of Health

Thursday September 12, 9:30 – 10:00 a.m.

 

Sharon Kuropatwa, B.A. M.A., Director-Community Area/Housing Support and Service Integration, Winnipeg Regional Health Authority/Department of Families

 

Objectives:

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

  • Differentiate between Equity and Equality.
  • Apply Equity Practice when working with marginalized and vulnerable populations.
  • Formulate service plans and supports using an Equity approach.

Health and Social Service systems are designed to maximize outcomes with maximum efficiency and minimal output. This program- centred model of service design works for the system: it creates known quantities of resources, models, expected outcomes and strategic plans. It does not, however, work for the most marginalized or vulnerable populations. A person-centred approach, steeped in harm reduction practice and framed by trauma-informed care, is the service design that can provide truly meaningful, appropriate, safe and timey services to those in the most need.

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Abstract Session

Thursday September 12, 10:30 – 12:00 p.m.

 

Click here to view the oral presentation abstracts

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Perinatal Palliative Care: Collaboration Along the Continuum

Thursday September 12, 2:30 – 3:45 p.m.

 

Simone Stenekes, RN MN CHPCN(C), Clinical Nurse Specialist, Pediatric Palliative Care Team – Winnipeg Regional Health Authority Palliative Care Program

Ginette Talbot, MS CGC, Genetic Counsellor, Winnipeg Health Sciences Centre

 

Objectives:

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

  • Recognize the complexities of a “lethal” condition and overcoming obstacles in care provision.
  • Identify 3 issues to consider when planning for a palliative care approach to care.
  • Describe 3 strategies to improve collaboration when providing a palliative approach to care.

When providing perinatal palliative care to families and infants, a great degree of uncertainty can exist. Diagnoses are often rare and the exact clinical course can be difficult to predict. Care for these patients can involve many specialty teams, as well as primary care providers, so a great degree of collaboration is required. Utilizing case studies we will explore clinical situations that may arise in perinatal palliative care. We will discuss strategies to enhance continuity of care, particularly focusing on advance care planning discussions, symptom management, communication strategies, and the development of individualized care plans.

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Three Years’ Experience with Hereditary Cancer Panel Testing at London Health Sciences Center: Results & Clinical Outcomes

Thursday September 12, 2:30 – 3:45 p.m.

 

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

 

Objectives:

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

  • Compare currently available hereditary cancer panels at LHSC.
  • Examine the difficulty in providing accurate risk assessment related to moderate risk genes in high-risk families.
  • Select appropriate cancer panel based on variable cancer histories.

Hereditary cancer panel testing by Next Generation Sequencing (NGS) was approved as a clinical test at London Health Sciences Centre in February 2016. Options in panel selection evolved from a 16-gene high penetrance panel in 2016 to larger, more specific panels tailored to the clinical presentation by 2019. Currently, there are no standardized criteria to determine which panel is most appropriate for patients based on their personal and/or family history of cancer. The purpose of this retrospective review is to describe our experience with ordering cancer panels, and propose a framework for panel selection.

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Incorporating Technology and Innovation Into Genetic Counselling: How to Develop an Online Module to Facilitate Parent-Child Communication about a Genetic Diagnosis

Thursday September 12, 2:30 – 3:45 p.m.

 

Simina Bogatan, BSc MSc, Genetic Counsellor, North York General Hospital

Andrea Shugar, MS CGC, Genetic Counsellor, The Hospital for Sick Children

 

Objectives:

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

  • Identify the steps needed to develop an educational module to facilitate communication between parents and their child.
  • Recognize potential challenges and key considerations involved in module development.
  • Apply skills to create an educational module relevant to your practice.

Through demonstration of an online module developed to facilitate discussion of 22q11.2 deletion syndrome between parents and their children, we will explore the components needed to create a communication tool. We will discuss the elements of module design, including software platforms, language choice, selecting a target audience, and creating a story board. Participants will be given the opportunity to create an outline for a module on a genetic condition of their choice. The target audience is genetic counsellors working with families where the question of discussing a diagnosis with children is relevant, particularly those with an interest in facilitating communication among families.

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Two by Two: A Study of the Relative Impact of Genetic and Environmental Factors on Manitoba Twins with Prenatal Alcohol Exposure **CANCELLED**

Thursday September 12, 4:15 – 5:30 p.m.

 

Dr. Sandra Marles, MD MSc FRCPC FCCMG, Clinical Geneticist, University of Manitoba

 

Objectives:

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

  • Describe the literature on twin studies and twins with prenatal exposure to alcohol (PAE).
  • Analyze our 32 twin pairs, their assessment and diagnostic outcomes.
  • Compare our data with the literature on environmental and genetic/epigenetic variability contributing to the development of FASD in twins with PAE.

At the Manitoba FASD Centre, 32 monozygous or dizygous twin pairs received a multidisciplinary team (developmental pediatrician, geneticist, psychologist, speech/language pathologist, occupational therapist, social worker) assessment between 2000-2019. This presentation describes the findings from: physical examination, brain domains, medical history.

Twin studies offer a valuable opportunity to better understand the relative impacts of familial and environmental influences, as well as the role of prenatal alcohol exposure on individual outcomes. There may be epigenetic/genetic variability between the twins that determines whether each twin will develop FASD. Some fetuses appear to be more susceptible to the teratogenic effects of alcohol than others.

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Going the Extra Mile: How to Reanalyze Clinical Exome Sequencing Data, a Hands-On Workshop for Genetic Counsellors – Part 1: From Clinical Observations to Usable Phenotype

Thursday September 12, 4:15 – 5:30 p.m.

 

Taila Hartley, MSc (Biochemistry), MSc (Genetic Counselling), Research Genetic Counsellor, Operations Director, Care4Rare Canada

Matthew Osmond, MSc, Research Coordinator, Children’s Hospital of Eastern Ontario Research Institute

 

Objectives:

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

  • Construct a list of Human Phenotype Ontology (HPO) terms based on clinical features described in a clinic letter.
  • Generate custom HPO (phenotype-derived) human-disease gene panels as filters for exome sequencing analysis.
  • Describe the implications of HPO term number and specificity in gene panel creation.

*BRING YOUR LAPTOP* This hands-on workshop will teach GCs how to phenotype their patients using Human Phenotype Ontology (HPO) and give them confidence in how to create custom human-disease gene panels. It will start with a brief background presentation on the usefulness of Phenotypic Ontologies. GCs will then be challenged to convert a clinic letter to HPO terms, and then subsequently into gene panels. This will be followed by a group discussion. By the end of the session, GCs will have created a number of gene panels that can then be applied to exome data in Part 2 of the workshop.

Part 2: From Phenotype-Derived Gene Panels to Variants of Interest is scheduled on Friday at 3:45 – 5:00 p.m.

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Genetics Testing for Hypertrophic Cardiomyopathy: Where Have We Been, Where Are We Now And Where Are We Going?

Thursday September 12, 4:15 – 5:30 p.m.

 

Amy Crowley, Genetic Counsellor, IWK Health Care Centre / MyGeneTeam

Julie Hathaway, Clinical Liaison, Genetic Counsellor, Blueprint Genetics

 

Objectives:

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

  • Summarize the evolution of genetic testing in hypertrophic cardiomyopathy (HCM).
  • Examine the yield of genetic testing in a heterogeneous HCM patient population.
  • Evaluate current practices with regards to HCM genetic testing and how these may influence test result outcome.

Genetic testing for HCM has evolved significantly over the last 15 years, both from a knowledge and technology point of view. However, the diagnostic yield of genetic testing in this patient population does not seem to have matched these advances. In this session, we will summarize the major milestones in HCM genetic testing, describe the diagnostic yield in lab and clinic HCM cohorts and finally, discuss how current testing practices and limitations may impacti test result outcomes. Case examples will be used to illustrate key messages and raise discussion points. An audience polling system will be used to generate discussion and assess differences in practice.

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Poster Presentations

Thursday September 12, 6:00 – 7:30 p.m.

 

Objectives:

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

  • Identify and inform of ongoing research around the country.
  • Communicate with colleagues from around the country.
  • Promote research collaboration.
  • Extend opportunities for members to discuss research and clinical work in a supportive, collaborative environment.

Click here to view the poster abstracts

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Abstract Session

Friday September 13, 8:30 – 10:00 a.m.

 

Click here to view the oral presentation abstracts

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GenCOUNSEL: Optimization of Genetic Counselling with Clinical Implementation of Genome-Wide Sequencing

Friday September 13, 10:30 – 10:40 a.m.

 

Dr. Alison Elliott, PhD MS CGC, University of British Columbia

 

Objectives:

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

  • Describe the challenges to access of genetic counselling.
  • Discuss the four main activities of GenCOUNSEL.

I will present an overview of the Genome Canada Large Scale Applied Research Project “GenCOUNSEL: Optimization of genetic counselling with clinical implementation of genome-wide sequencing. Background information and an introduction of the four main activities will be presented. These include: 1) Profession: Genetic counsellors workforce needs assessment; 2) Practice: Develop, evaluate and enhance innovative methods for effective genomic counselling: 3) Programs: Optimize patient/test selection and management and 4) Policy: research into the legal recognition of genetic counsellors.

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GenCOUNSEL: Integration of Genetic Counsellors in Genomic Testing Triage and Outcomes: The Genomic Consultation Service at BC Children’s and Women’s Hospitals

Friday September 13, 10:40 – 11:00 a.m.

 

Courtney Cook, BSc, Department of Medical Genetics, Faculty of Medicine, University of British Columbia

 

Objectives:

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

  • Summarize two benefits of having genetic counsellors involved in the test review process.
  • Identify three key challenges imposed by insurance coverage of genetic testing.
  • Examine three benefits of translational research programs providing genomic testing.

The rise in the availability and complexity of genetic testing paired with the limited genomics training of many health providers can result in an increase in the number of mis-ordered genetic tests. Despite genetic counsellors possessing the training and expertise to triage genetic testing requests, they are not always integrated into the process. In this presentation, we describe a genetic counsellor led service at BC Children’s and Women’s Hospitals that provided genomic advice to physicians considering genome-wide sequencing for their pediatric patients. We will review the outcomes of the service, assess the impact that genetic counsellor involvement can have on pursuing test requests and address barriers to access of genomic testing.

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GenCOUNSEL: Scoping Reviews Exploring Genetic Service Utilization and The Clinical Genetics Workforce

Friday September 13, 11:00 – 11:20 a.m.

 

Kennedy Borle, BSc MSc, Research Genetic Counsellor, University of British Columbia

 

Objectives:

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

  • Summarize the available evidence about genetic service utilization.
  • Summarize the available evidence about the clinical genetics workforce.

The purpose of this project is to perform an environmental assessment to determine the unmet needs for genetic services in Canada, in part by conducting two scoping reviews about genetic service utilization and the clinical genetics workforce. The findings from the utilization review are that the two main areas of use are cancer and prenatal care, utilization is increasing over time, and despite increased use, there are eligible individuals who are not accessing genetic services. The findings from the workforce review include describing the composition and scope of practice for members of the workforce and identifying opportunities to increase capacity through task substitution, and advances in service delivery models and technology.

The target audience is all individuals interested in genetics workforce capacity, efficiency, and planning.

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GenCOUNSEL: Optimizing Patient Management – Learning from the CAUSES Experience

Friday September 13, 11:20 – 11:40 a.m.

 

Nicole Liang, BSc, Research Assistant, University of British Columbia

 

Objectives:

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

  • Compare parental knowledge and decisional conflict levels between multiple methods of pre-test education on genome-wide sequencing (GWS).
  • Identify unique post-result needs for families going through genome-wide sequencing.
  • Examine areas of improvement in patient management.

The CAUSES clinic is a pediatric research initiative offering trio Genome-Wide Sequencing to 500 families in BC.

Through a series of questionnaires and qualitative interviews pre and post-GWS, we measured parental knowledge, decisional conflict and decisional regret. Findings revealed correlations between knowledge and decisional conflict and highlighted the potential for decisional regret in families receiving a negative result. The unique support needs identified by families before and after GWS will be reviewed.

This research examines the challenges, lessons and future directions to optimize patient experiences of GWS which are pertinent to genetic counsellors, and other healthcare professionals providing genomic testing.

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GenCOUNSEL: Policy – Legally Recognizing Genetic Counsellors in Canada: Models, Policy Options and Associated Criteria

Friday September 13, 11:40 – 12:00 p.m.

 

Dr. Ma’n H. Zawati, LL.B. LL.M. Ph.D. (D.C.L.), Executive Director, Centre of Genomics and Policy, McGill University

 

Objectives:

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

  • Identify the legal status of genetic counsellors in Canada and the limitations of the current approach.
  • Summarize several models for legal recognition of the genetic counselling profession in Canada.
  • Evaluate the advantages and disadvantages of each model and highlight similarities between them.

Genetic counselling has yet to be formally recognized as a profession in Canada. Over the past decade, much ink has been spilled on the lack of legal recognition, both from a practical and a legislative point of view. Following a national and international comparative analysis of legislation and policies related to legal recognition of professions, we have identified a number of “recognition models” suitable for our Canadian legal landscape. These results will allow both genetic counsellors and policymakers to identify the advantages and disadvantages of each model and will serve as a common denominator for a consensus building effort across Canada.

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Presenting your research: why it matters and tips on how to communicate more effectively

Friday September 13, 2:00 – 3:15 p.m.

 

Shelin Adam, BSC MSc, Research Genetic Counsellor, University of British Columbia

Kennedy Borle, BSc MSc, Research Genetic Counsellor, University of British Columbia

Dr. Alison Elliott, PhD MS CGC, University of British Columbia

 

Objectives:

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

  • Formulate a method to create and present research posters for a variety of audiences.
  • Identify ways to improve verbal communication for oral presentations.
  • Illustrate how to prepare research manuscripts for publication.

Effectively communicating research can be very challenging but is necessary to ensure that research findings are disseminated to all stakeholders and that they are conveyed in an appropriate way to the audience of interest. Communicating research is particularly important in the field of genetic counselling because the findings may have implications for informing health policies and improving patient care. The purpose of this workshop is to discuss tips for preparing research for poster presentations, oral presentations, and writing manuscripts for publication. We will provide resources and suggestions on how to increase effectiveness and reach a broader audience.

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There and Back Again – The Return to Clinic From Industry

Friday September 13, 2:00 – 3:15 p.m.

 

Cynthia Handford, MSc CGC CCGC, Genetic Counsellor, Seattle Cancer Care Alliance

Oana Morar, Genetic Counsellor, Credit Valley Hospital

Rachel Vanneste, MSc CCGC CGC, Laboratory & Clinical Genetic Counsellor, Saskatchewan Health Authority

 

Objectives:

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

  • Summarize the various practice-based competencies that are more often used in non-clinical genetic counselling roles.
  • Examine the pros and cons of leaving and returning to work in clinical settings.
  • Identify ways in which skills obtained in non-clinical genetic counselling roles are transferable back to patient care.

In recent years, there has been an increase in Canadian genetic counsellors who have left clinic jobs and patient-facing roles to enter non-clinical, industry jobs. Some of these GCs have returned back to clinic and are able to offer a perspective of what that looks like, how their time in non-clinical roles/industry has changed their perspective and practice in clinic and to demonstrate how GC skills can be transferred in new ways.

Aside from the learning objectives listed below, this workshop is to highlight to GCs that once you leave clinic for another job, it doesn’t mean you won’t potentially go back! It will help to demonstrate other ways of considering a career trajectory and that there may be more flexibility in our long term careers than we had previously imagined.

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Reducing the Risk: One Carrier Test at a Time

Friday September 13, 2:00 – 3:15 p.m.

 

Angela Bedard, MS, Genetic Counsellor, BC Cancer

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

 

Objectives:

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

  • Summarize current laws, policies and ethical considerations related to carrier testing and duty to warn in Canada.
  • Identify ways to incorporate health literacy best practices in to information sheets/letters provided to families.
  • Examine ethically challenging cases related to cascade carrier testing and family communication.

Reported carrier testing rates vary widely with many studies showing lower uptake than clinicians would expect. The majority of hereditary cancer clinics depend on probands to disseminate information about testing availability to their relatives. This approach has been challenged in the literature with calls for clinics to become more proactive in identifying those at risk.

Using existing patient information materials and case studies, this workshop will examine current carrier testing practices, supporting communication within families, and options for directly contacting relatives who are at risk for hereditary cancer. Content may also be of interest to clinicians practicing in non-cancer clinics.

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Going the Extra Mile: How to Reanalyze Clinical Exome Sequencing Data, a Hands-On Workshop for Genetic Counsellors – Part 2: From Phenotype-Derived Gene Panels to Variants of Interest

Friday September 13, 3:45 – 5:00 p.m.

 

Taila Hartley, MSc (Biochemistry), MSc (Genetic Counselling), Research Genetic Counsellor, Operations Director, Care4Rare Canada

Matthew Osmond, MSc, Research Coordinator, Children’s Hospital of Eastern Ontario Research Institute

 

Objectives:

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

  • Identify how population frequencies, in-silico predictions, and inheritance patterns can be used to filter exome sequencing data.
  • Apply phenotype-derived gene panels as filters for exome sequencing analysis.
  • Illustrate how to use this method to interpret variants of interest identified through exome sequencing.

*BRING YOUR LAPTOP* This hands-on workshop will teach GCs to review exome data using phenotype-derived gene panels (developed in Part 1). Participants will be provided with an artificial exome dataset (an excel file produced by Care4Rare) and a brief introductory presentation. GCs will then analyze the data in real time; learning how to apply phenotype-derived gene panels and critically review the ensuing variants (which variants might be ruled out and which should be considered further). A final group discussion will review lessons learned and appropriate next steps. Participation in Part 1 is not necessary to join this Workshop.

Part 1: From Clinical Observations to Usable Phenotype is scheduled on Thursday at 4:15 – 5:30 p.m.

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“Getting Hands-On in Industry”: Equipping Genetic Counselling Students for Industry Roles in an Evolving Canadian Workforce

Friday September 13, 3:45 – 5:00 p.m.

 

Jessica Hartley, MS CGC, Program Director, MSc in Genetic Counselling, University of Manitoba

Tracey Oh, MS, Co-Director Master of Genetic Counselling Program, Clinical Training, University of British Columbia

Rachel Vanneste, MSc CCGC CGC, Laboratory & Clinical Genetic Counsellor, Saskatchewan Health Authority

 

Objectives:

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

  • Examine the landscape of Canadian genetic counsellors in industry roles and how students are exposed to these individuals in their programs.
  • Summarize how industry genetic counsellors use the practice based competencies.
  • Evaluate how industry genetic counsellors could interact with genetic counselling students beyond formal teaching, either face to face or remotely.
  • Construct a Canadian framework for industry rotations acceptable to the needs of Canadian Universities and genetic counsellors at public/private sites.

The workforce of Canadian genetic counsellors in industry is increasing quickly. These genetic counsellors are breaking ground, expanding the roles, responsibilities and opportunities for the profession in Canada. With this growth brings an educational need to prepare students for this expanding area of practice. This workshop-style session engages both genetic counselling program leadership and industry genetic counsellors to build a Canadian framework for industry rotations for students. The target audience for this session is genetic counsellors in industry roles and those in program leadership/educational roles.

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Abstract Session

Saturday September 14, 8:40 – 9:40 a.m.

 

Click here to view the oral presentation abstracts

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The Growing Role of Medical Genetics in the Care of Patients with Primary Immunodeficiency

Saturday September 14, 9:40 – 10:10 a.m.

 

Géraldine Gosse, MSc CCGC, Genetic Counsellor, Montreal Clinical Research Institute

 

Objectives:

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

  • Recognize the warning signs of a potential primary immunodeficiency.
  • Identify the main indications for genetic testing for patients with primary immunodeficiency.
  • Adapt the illustrated model of collaboration between the immunologist and the genetic counsellor to other clinical contexts.

Primary immunodeficiency (PID) is a very heterogenous group of diseases characterized by an inborn absence or functional defect of some or all elements of the immune system. The updated expert PID classification of 2017 reported 354 disorders associated with 344 gene defects and their number increases rapidly every year. Genetic testing is an important diagnosis and prognosis tool in the context of PID, but genetic teams are rarely involved in the process. In this session, we will present our model of collaboration between an immunologist and a genetic counsellor in an adult immunodeficiency clinic and provide some examples of hereditary PIDs that we encountered. We aim to increase the awareness of medical genetic experts on the genetic aspects of care for patients with PID.

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Research of Prenatal Epigenetic Changes Through Longitudinal Studies

Saturday September 14, 10:30 – 11:15 a.m.

 

Dr. Meaghan Jones, PhD, Assistant Professor, University of Manitoba

 

Objectives:

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

  • Define epigenetics and DNA methylation.
  • List prenatal environments which have been associated with epigenetic changes.
  • Describe challenges of performing DNA methylation studies in human populations.

Dr. Jones will discuss environmental epigenetics in the context of prenatal exposures and long term health.

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Review of the Ehlers-Danlos Syndromes, Including Addressing the Elephant in the Room

Saturday September 14, 11:15 – 12:00 p.m.

 

Dr.Alan Rope, MD, Clinical Geneticist, Genome Medical

 

Objectives:

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

  • Apply appropriate genetic testing recommendations for individuals presenting with signs and symptoms of the Ehlers-Danlos syndromes.
  • Design a clinical action plan for each of the Ehlers-Danlos syndromes that are reviewed in the presentation.
  • Examine the specific challenges associated with the management of individuals presenting with features of hypermobility EDS.

This presentation will include a systematic review of the various forms of Ehlers-Danlos syndromes (EDS). Evidence-based guidelines will be discussed, care gaps will be exposed and the specific challenges associated with EDS type III, hypermobility EDS (hEDS) will be addressed with the goal of providing clinicians with information that will optimize the care of these patients.

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Please note: Speakers were selected to present based on their area of expertise; however, the opinions of the speakers are not necessarily reflective of the opinions of the CAGC.