Scientific Program

WEDNESDAY NOVEMBER 2 – SHORT COURSE

 

THURSDAY NOVEMBER 3

 

FRIDAY NOVEMBER 4

 

SATURDAY NOVEMBER 5

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Some Parent and Provider Perspectives on WGS in Children
Wednesday November 2, 8:40 a.m. – 9:30 a.m.

 

Michael Szego, PhD, MHSc, University of Toronto and St. Joseph’s Health Centre

Objectives:

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

  • Discuss the return of genome sequencing results in the pediatric context.
  • Describe some parent perspectives on WGS.
  • Describe healthcare provider perspectives of WGS in children and their reflections on the notion of best interests.

In this presentation, I will describe the controversy surrounding what genomic results ought to be returned in the pediatric context. I will then discuss preliminary results from 2 ongoing qualitative studies. In the first study, we interviewed parents that had enrolled their child in a WGS study and asked them to reflect on the consent process and the return of result process. In the second study, we interviewed healthcare providers and asked them to reflect on the notion of best interests and WGS in pediatric care.

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Conflicts of Interest in Genetic Counselling: Challenges and Opportunities
Wednesday November 2, 9:30 a.m. – 10:10 a.m.

 

Bryn Williams-Jones, PhD, Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal

Objectives:

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

  • Using concrete examples, define conflict of interest in health care settings.
  • Examine what constitutes problematic conflicts of interest in genetic counselling.
  • Identify appropriate management strategies for professionals (genetic counsellors and others).

Alongside direct commercial activities, companies and industry associations in the health sector – especially the biopharmaceutical industry – finance different organizations (e.g., non-profits), as well as university research projects and educational initiatives (e.g., conferences). Not limited to the challenges of working across boundaries between public and private professional practice, as is the case in genetic counselling with the emergence of direct-to-consumer genetic service providers, this situation has led to debate within the international scientific community, and among health professionals, about the benefits of different sorts of partnerships with industry and the risks associated with apparent or real conflicts of interest. Many now argue for limiting cooperation between health professionals and industry to preserve independence and to avoid actual or apparent conflicts of interest that can threaten objectivity, raise questions about the delivery of appropriate care and services, and so undermine patient and public trust in professionals and their institutions. Others point out that it is inevitable, and even beneficial, to develop initiatives in partnership with the private sector since many health services are no longer delivered exclusively (or at all) by the public sector, and so the levers for change in patient health have shifted to private practice settings or industry associations. So what role can or should genetic counsellors and their associations have in building partnerships with the private sector? And what can or should these different actors do to reduce the incidence or severity of conflicts of interest (whether personal/professional, financial or institutional), and so support ethical and mutually beneficial partnerships that advance the goals of public health?

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Genetic Counselors and Civil Liability: the Quebec Perspective
Wednesday November 2, 10:30 a.m. – 11:15 a.m.

 

Ma’n H. Zawati, LL.B., LL.M., Executive Director, Centre of Genomics and Policy, McGill University

Objectives:

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

  • Describe Quebec’s civil liability regime.
  • Explain genetic counselor’s (GC) legal status in Quebec and the rest of Canada.
  • Identify emerging issues that could engage the GC’s civil liability (e.g. return of results, warning third parties, encroachment with other professions, etc.).

This presentation aims to provide the audience with a preliminary look at the civil liability of genetic counselors (GC) from a Quebec perspective. Indeed, it aims at familiarizing the attendees with the GC’s legal status, while discussing the emerging challenges they face from a liability perspective (e.g. return of results, DTC genetic tests, professional encroachment, warning at-risk relatives of patients, etc.)

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The Right to Science
Wednesday November 2, 10:30 a.m. – 12:00 p.m.

 

Bartha Maria Knoppers, McGill University

Objectives:

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

  • Summarize an overview of current approaches to data sharing and access.
  • Identify emerging issues in data intensive science.
  • Describe the possible use of the human “right to science” to facilitate data sharing and access.

Patient empowerment, citizen science and the right of access to one’s “genome” are becoming popular claims in data intensive science. Underscoring and perhaps bolstering such claims is the hitherto neglected “right to science”. This human right first found in the Universal Declaration of Human Rights of 1948 has recently found new life and a “raison d’être” in the context of data sharing and access in genomics and genetic research. What is the meaning of this right and what are the implications?

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Genetics and Insurance in Canada: Will Bill S-201 to Prohibit and Prevent Genetic Discrimination resolve the controversy?
Wednesday November 2, 2:00 p.m. – 2:45 p.m.

 

Yann Joly, Ph.D. (DCL) Ad.E., Associate Professor, McGill University

Objectives:

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

  • Explain the core legal rules applicable to genetics and insurance in Canada.
  • Summarize up-to-date information on Bill S-201 to Prohibit and Prevent Genetic Discrimination currently under review by the Canadian House of Commons.
  • Examine a broader ethical and social perspective on the issue of genetics and insurance.

Canada is one of the few western countries that has yet to legislate on the contentious topic of access to genetic information by insurers. This situation could be remedied in the near future by the adoption of proposed Bill S-201 to Prohibit and Prevent Genetic Discrimination. The proposed communication will discuss the current legal framework applicable to genetic and insurance in Canada and how it would be affected by the potential adoption of S-201. The impact on the larger ethical and social issues raised by the use of genetic information by the insurance industry will also be contemplated.

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Bill S-201: An Update and Implications for Genetic Counsellors
Wednesday November 2, 2:45 p.m. – 3:30 p.m.

 

Angela Bedard, MS, CGC, Genetic Counsellor, BC Cancer Agency, Abbotsford BC Yann Joly, Associate Professor, Centre for Genomics & Policy, McGill University, Montreal QC

Objectives:

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

  • Explain the history of Bill S-201 and discuss the current status of the bill.
  • List some of the challenges ahead for Bill S-201.
  • Discuss the implications of Bill S-201 for genetic counselors and their patients.

Legislation to prohibit genetic discrimination has been long awaited by the genetics community. The introduction of Bill S-201, An Act to prohibit and prevent genetic discrimination, has been an important step in this process. This presentation will review the history of the bill and give an update on its present status. Supporters and critics of the bill have cited challenges that may surface if the bill becomes federal law, which we will discuss. Bill S-201 has implications for genetic counselors, and may significantly impact the patients and families for whom we provide care.

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Panel Discussion
Wednesday November 2, 4:00 p.m. – 5:15 p.m.

 

Angela Bedard, MS, CGC, Genetic Counsellor, BC Cancer Agency

Yann Joly, Associate Professor, Centre for Genomics & Policy, McGill University

Bartha Maria Knoppers, Ph.D., Ad.E., O.C., Q.C., FCAHS, Director, Centre of Genomics & Policy, McGill University

Michael Szego, PhD, MHSc, Clinical Ethicist, Assistant Professor, Department of Family & Community Medicine, University of Toronto

Bryn Williams-Jones, PhD, Bioethics Program, Department of Social and Preventative Medicine, School of Public Health, Université de Montréal

Ma’n H. Zawati, L.L.M., Executive Director, Centre for Genomics & Policy, McGill University

Objectives:

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

  • Identify new areas of research in genetics ethics.
  • Describe changes in bioethics that are relevant to genetic counsellors in the genomic era.
  • Describe areas of disagreement highlighted during presentations presented in the session earlier in the day.

Conference attendees will be asked questions during the five presentations on Wednesday Nov. 2nd short course session. These questions will be put to the experts at the 4-5:15 pm panel discussion. The panel will identify new areas of research in genetic ethics, examining changes in bioethics that are relevant to genetic counsellors in the genomic era. The panel will also highlight and discuss areas of disagreement highlighted by the presentations throughout the day and discuss their relevance for genetic counsellors.

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My Fragile X Story: Parent, Advocate, M.D. and Researcher
Thursday November 3, 8:40 a.m. – 9:30 a.m.

 

Carlo Paribello, Fragile X Research Foundation of Canada

Objectives:

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

  • Formulate a basic understanding of the molecular aspects of fragile X syndrome.
  • Describe the clinical presentation of patients with fragile X syndrome.
  • Construct a view of this disorder from a parent’s perspective.
  • Describe potential future treatments, and the role of the Fragile X Research Foundation of Canada.

Fragile X is the leading inherited cause of cognitive impairment, and the most common known single-gene cause of autism. As a family physician and father of two sons with fragile X syndrome, I will provide a chronological description of the progress made by researchers in understanding this disorder, and explain how a group of parents and volunteer professionals established The Fragile X Research Foundation of Canada (FXRFC). The FXRFC is a non-profit organization which is dedicated to funding biomedical research for improved treatment and, ultimately, a cure for fragile X.

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What have we learned from genomic research on autism spectrum disorder?
Thursday November 3, 9:30 a.m. – 10:10 a.m.

 

Ny Hoang, Hospital for Sick Children

Objectives:

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

  • Summarize an overview of the genetics and complexity of ASD.
  • Formulate research results from genomic analysis in ASD.
  • Summarize available clinical testing for ASD.

Research in autism spectrum disorder (ASD) has generated an enormous amount of data over the years. It is becoming increasingly difficult to keep abreast of the latest genetic discoveries and make sense of how it impacts genetic counselling for ASD. This talk will provide an overview of what is currently known about the genetic contributions to ASD, summarize research findings from genomic analysis, and highlight the complexity in translating this information into clinical care.

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The CRISPR System and its Use in the Treatment of Monogenetic Disease
Thursday November 3, 2:00 p.m. – 2:45 p.m.

 

Dominique Ouellet, Ph.D., CHU de Québec/Laval University

Objectives:

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

  • Describe how to use the CRISPR system as a molecular tool for gene therapy.
  • Describe how to deliver the CRISPR components to the target gene.

In the past few years, the CRISPR system has already proved its efficiency as a tool to modulate gene expression in mammalian cells. Modified Cas9 proteins can cut or nick DNA with high specificity when used with appropriate guide RNA (gRNA) expressed from polymerase III promoters. It has been shown that the CRISPR system can be use to edit one single nucleotide or remove thousand of DNA kilobases. In order to do so, CRISPR components are delivered using different techniques in regard of the cells to be corrected. Some limitations to the CRISPR technology will be discussed, like off-target effects or packaging capacity into viral vectors.

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Novel therapies for cystic fibrosis patient: Are we at the end of a long trip?
Thursday November 3, 2:45 p.m. – 3:30 p.m.

 

Yves Berthiaume, Institut de recherches cliniques de Montréal

Objectives:

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

  • Discuss the relationship or lack of relationship between the phenotype and genotype in cystic fibrosis.
  • Outline the historical development of therapies of the basic defect.
  • Discuss the important role of supportive therapies.

In this talk we will first review the basic concept of cystic fibrosis pathophysiology before discussing all the therapies that have been developed to correct the basic defect of the disease. We will also discuss a number of important therapies that help control the evolution of the disease.

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Beyond the five stages: supporting your patients in their grief
Thursday November 3, 4:00 p.m. – 5:15 p.m.

 

Heather Douglas, MSc, MS, CGC, CCGC, Genetic Counsellor, Rouge Valley Health System

Objectives:

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

  • Outline various sources of grief that impact your prenatal, pediatric, cancer, adult, and cardio patients.
  • Describe concrete ways to use grief counselling in your everyday practice.
  • Discuss grief theory beyond Kubler-Ross’ five stages of grief.
  • Discuss normal and abnormal grief reactions.

This workshop will encourage genetic counsellors to build on their psychosocial skills. The session will help attendees explore the modern world of grief counselling and how it applies to them as genetic counsellors. Through a mix of didactic learning, individual work and group interaction, attendees will gain concrete skills that will help them respond to their patients’ grief. They will learn about specific modern grief theory such as meaning-making, as well as features of normal and abnormal grief reactions. This workshop is intended for genetic counsellors working in all subspecialties.

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Direct to Professional Testing: Implications for trainees, GCs and patients
Thursday November 3, 4:00 p.m. – 5:15 p.m.

 

Jaime Jessen, MSc, CCGC, CGC, Genetic Counsellor, Impact Genetics

William Pirjamali, M.Sc., Genetic Counsellor, TBRHSC Genetics Program

Kimberley Seath, University of British Columbia

Rachel Vanneste, PreventionGenetics

Objectives:

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

  • Evaluate the implications of direct-to-consumer testing being offered to genetic counselling trainees.
  • Explore the personal and professional ramifications of undergoing direct-to-consumer genetic testing as a practicing genetic counselor.
  • Examine the implications of offering private pay genetic testing to patients within a public healthcare system.
  • Determine what DTC testing resources are currently lacking.

This workshop is intended for any genetic counsellor interested in discussing the various ways in which direct-to-consumer (DTC) and private-pay genetic testing can infiltrate our training, practices and lives. As DTC testing becomes more readily available, mainstream and affordable, how does this change the way that we consider genetic testing for our patients and, potentially, ourselves? Four genetic counsellors will speak to their experiences with DTC and private-pay genetic testing from their unique perspectives of being offered testing as a genetic counselling trainee, to purchasing DTC genetic testing, to counselling patients about private-pay testing and chairing the CAGC DTC taskforce.

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LGBTQ Issues in the context of Genetic Counselling
Thursday November 3, 4:00 p.m. – 5:15 p.m.

 

Carleigh Robertson, Health Sciences North

Ronni Teitelbaum, Mount Sinai Hospital

Objectives:

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

  • Construct an overview and LGBTQ Definitions.
  • Discuss barriers that LGBTQ individuals face regarding access to healthcare.
  • Formulate tips for providing equitable healthcare to LGBTQ clients.
  • Identify tips for creating a welcoming workspace for staff and patients.
  • Discuss issues specific to GC’s, including pedigree drawing, surrogacy, and cancer screening.

In this workshop, Ronni and Carleigh will educate the CAGC membership about the LGBTQ community in the context of genetic counselling. We will review what it means to be part of the LGBTQ community. We will explain common barriers that LGBTQ people face when accessing healthcare. We will discuss how to provide inclusive and equitable genetic counselling, and how to create an LGBTQ-positive workspace for staff and patients.

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Biallelic Mismatch Repair Deficiency Syndrome
Friday November 4, 10:30 a.m. – 11:15 a.m.

 

Melyssa Aronson, Mount Sinai Hospital

Objectives:

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

  • Describe the cancer risk and associated features of BMMRD.
  • Discuss the complexity of diagnosing of BMMRD.
  • Discuss the surveillance and management of BMMRD families.

Biallelic Mismatch Repair Deficiency Syndrome or BMMRD is an autosomal recessive cancer susceptibility condition that greatly increases the risk of primarily brain, hematological and gastrointestinal cancers in children and young adults. BMMRD is caused by mutations in the mismatch repair genes, which is associated with Lynch syndrome in individuals with heterozygous mutations. NF1 features, such as café-au-lait macules, have also been described as part of this condition. The wide spectrum of cancers observed in these families and the rarity of the condition makes diagnosis difficult. This presentation will review the main features of BMMRD, systemic approach for diagnosis and surveillance guidelines in families that are impacted.

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DICER1: mutations and phenotypes
Friday November 4, 11:15 a.m. – 12:00 p.m.

 

William Foulkes, MBBS, FRCPC, PhD, Professor, McGill University, MUHC

Objectives:

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

  • Describe the key features of the DICER1 syndrome.
  • Recognize that somatic and germline mutations in DICER1 often affect different parts of the gene.
  • Differentiate DICER1 syndrome from related syndromes.

DICER1 is an endoribonuclease that plays an essential role in modulating the expression of target genes by the production of mature microRNAs, which are small, single stranded RNA molecules that bind to mRNA. DICER1-related diseases are collectively called the DICER1 syndrome and germline mutations have been discovered in individuals with rare childhood cancers such as pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor, embryonal rhabdomyosarcoma and other rare tumors. In this presentation, I will discuss the phenotypic landscape of DICER1 mutations, and will discuss how the timing and distribution of DICER1 mutations can affect the severity of the observed conditions.

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Cancer: Demystifying Pancreas Cancer: Genetics, Management and Screening
Friday November 4, 2:00 p.m. – 3:15 p.m.

 

Claire Bascuñana, Jewish General Hospital

Adeline Cuggia, McGill University Health Center

Objectives:

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

  • Differentiate the subtypes of pancreas cancer.
  • Describe how genetic and lifestyle factors may influence pancreas cancer risk.
  • Identify which personal or familial factors may be associated with a genetic predisposition for pancreas cancer and a higher risk of pancreas cancer.
  • Criticize clinical genetic testing options and results for individuals and families with pancreas cancer and discuss their implications.
  • Discuss therapeutic options for pancreas cancer and describe how genetic factors may help tailor patient treatment.
  • Discuss current pancreas cancer screening recommendations for individuals at high risk of pancreatic cancer and recognize their limits.
  • Analyze sporadic and familial research and clinical pancreas cancer cases.

Tired of the uncertainty and dread when you see “pancreas cancer” on a referral? Want to refresh up your pancreas cancer knowledge? Then this workshop is for you! From the basics of pancreas cancer to risk factors, genetics, treatments and screening, we will discuss the key points for your practice or your intellectual curiosity. Whether you are an expert in cancer genetics or a newcomer to the field, one thing is certain – after this workshop, you will never fret about prepping for a pancreas cancer case again! Bring your own sporadic and familial pancreas cancer cases for an interactive discussion.

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Everything you ever wanted to know about expanded carrier screen but were too afraid to ask!
Friday November 4, 2:00 p.m. – 3:15 p.m.

 

Nathalie Bolduc, MSc, CCGC, CGC, Senior Territory Manager & Genetic Counsellor, LifeLabs Genetics

Objectives:

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

  • Define basic elements of expanded carrier screen (ECS).
  • Identify advantages and possible drawbacks associated with the use of ECS.
  • Discuss the value and limitations of the various ECS test offers.

In recent years, the introduction of new sequencing technologies have led to the development and offer of expanded carrier screening panels (ECS). These panels can include a complete assessment of anywhere from 50 to several hundred genes simultaneously. However, there is currently no guidelines on which diseases should be included nor which screening method should be used (frequent mutations vs NGS). Some of these have to be ordered by a healthcare provider and include genetic counselling while others are direct-to-consumer products. In an attempt to provide a better understanding of advantages and limitations of the current ECS offers, this workshop will use actual results from 5 different ECS panels performed on the same individual.

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Industry/Laboratory Genetics: Reframing What We Already Know: Sales and Marketing 101 for Genetic Counsellors
Friday November 4, 2:00 p.m. – 3:15 p.m.

 

Deepti Babu, Ambry Genetics
Andrea Secord, GeneDx
Rachel Vanneste, PreventionGenetics

Objectives:

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

  • Discuss laboratory-based genetic counselling roles involving sales and marketing.
  • Describe common business terminology relevant to genetic counsellors.
  • Apply genetic counsellors’ core skills to a sales and/or marketing project or role.

This workshop is intended for any genetic counsellor interested in gaining a better understanding and confidence in the arenas of sales, marketing and some of the business aspects of an industry-based genetic counselling role. Three laboratory genetic counsellor speakers will highlight core skills that genetic counsellors possess that translate well to these types of industry roles, and will offer practical tips for genetic counsellors to keep in mind when negotiating a job offer in this industry. A small group activity will also occur, during which group leaders will help discuss sample industry job postings with participants.

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Adult: Chronic Non-Cancer Pain: A Primer for Genetic Counselors
Friday November 4, 3:45 p.m. – 5:00 p.m.

 

Leah Pink, MN, NP-Adult, Nurse Practitioner, Mount Sinai Hospital

Objectives:

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

  • Discuss chronic pain.
  • Discuss chronic non-cancer pain management.
  • Describe genetic conditions with a chronic pain component.

Chronic non-cancer pain poses a major challenge to healthcare providers and patients. Chronic pain impacts quality of life of patients and their families and can lead to significant financial burdens. As health care professionals we need to better recognize, understand and acknowledge the implications of chronic pain. This presentation will introduce the topic of chronic non-cancer pain to Genetic Counselors working with individuals and families at risk for genetic conditions that involve chronic pain, and will discuss strategies for management. Examples of genetic conditions that can present with a major chronic pain component will be highlighted.

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Getting to the heart of the matter: Issues and challenges in cardiogenetics
Friday November 4, 3:45 p.m. – 5:00 p.m.

 

Johannie Gagnon, Montreal Heart Institute
Laura Robb, Montreal Heart Institute

Objectives:

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

  • Identify key issues in genetic counselling for cardiogenetic conditions.
  • Formulate approaches to the complexities involved in managing these families.
  • Appraise different modes of service delivery in specialty clinics.

The specialty field of cardiogenetics is evolving as swiftly as the attendant technologies related to such heart conditions. Because many of these conditions are considerably frequent and therefore surface in pedigree taking, all genetic counsellors may benefit from understanding the approach to such cases. By means of small group case discussion of various hereditary cardiac conditions, such as cardiomyopathies, genetic arrhythmias and aortopathies, key counselling issues in this field will be identified. In sharing approaches to these cases with the entire group, specific challenges, relating to genetic counselling, will be elucidated. A review of different modes of service delivery in specialty genetic services, such as cardiogenetics, will nourish discussions regarding the offer of such services.

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Get out there! How to efficiently write up your research
Friday November 4, 3:45 p.m. – 5:00 p.m.

 

Taila Hartley, BSc, MSc, MSc, Research Genetic Counsellor, CARE for RARE, CHEO Research Institute

Objectives:

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

  • Discuss the options for presenting research.
  • Distinguish key messages in research and help select the appropriate peer-reviewed journal so that it ‘never’ gets rejected.
  • Discuss strategies for efficiently writing a manuscript.

This presentation is geared for any and all Genetic Counsellors who have an interest in writing an article for a peer-reviewed journal; whether it’s an interesting case you’ve seen, a small chart review, or a large-scale research project. We all struggle to find the time to write up our research, but it’s worth it to get it out there! This practice-specific workshop will briefly discuss the options for presenting your research. We’ll talk about how to identify your key messages and find your “niche”, which ultimately will help you identify the appropriate peer-reviewed journal. Finally, we’ll discuss strategies for writing up your research in an efficient manner. Taila Hartley will be leading this workshop; she’s a Research Genetic Counsellor for a large-scale Canadian project called Care4Rare that publishes approximately 50 papers a year.

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Clinical Trials for Neurogenetic Conditions: How Genetic Counsellors Can Get Involved
Saturday November 5, 8:40 a.m. – 9:30 p.m.

 

Clare Gibbons, MS, Genetic Counsellor, North York General Hospital

Objectives:

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

  • Describe the different phases of clinical trials as well as observational studies/registries.
  • Discuss some current Huntington disease and early onset Alzheimer disease clinical trials.
  • Discuss how genetic counsellor can contribute and get involved in clinical trials.

It is an exciting time in the pursuit of cures for neurogenetic conditions with a number of clinical trials exploring innovated disease treating strategies. Genetic counsellors can contribute to clinical trials in a number of ways from patient education to being involved in study activities. This presentation will provide background information about the clinical trial process and some clinical trials being conducted on Huntington disease and early onset Alzheimer disease. The presentation will provide information on how genetic counsellor can stay up to date on clinical trials, get their patients engaged, and ways they can be part of conducting a clinical trial.

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Autosomal Dominant Alzheimer Disease, its Pathophysiology, Clinical Presentations and Clinical Trials
Saturday November 5, 9:30 a.m. – 10:10 a.m.

 

Pedro Rosa-Neto, MD, PhD, McGill University

Objectives:

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

  • Define the preclinical, mild cognitive impairment, and dementia phases of Alzheimer’s disease.
  • Describe the role of biomarkers on the diagnosis of dementias.
  • Discuss typical and atypical phenotypes in autosomal dominant Alzheimer’s disease.

This presentation will summarize the advances on the diagnosis of Alzheimer’s disease.
We will introduce the concept of biomarkers for Alzheimer’s disease pathology and highlight phenotypes associated with disease progression.

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Genetics of ALS and its Clinical Application
Saturday November 5, 10:30 a.m. – 11:15 a.m.

 

Nancy Anoja, MSc, CCGC, Genetic Counsellor, Montreal Neurological Hospital

Objectives:

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

  • Describe the contribution of genetics to amyotrophic lateral sclerosis (ALS), in both familial and sporadic ALS.
  • Describe why all patients with ALS would benefit from a genetic counselling consultation.
  • Identify some genetic counselling issues specific for ALS disease.

With the rapid evolution in genetics, ALS is yet another sporadic disease in which its hereditary contribution has emerged. The goal of this presentation is to review which genes have been identified in both the familial and sporadic forms of ALS, look at its implications on the patient’s clinical and familial perspective and what the future holds for clinical trials. And finally, lay out what is currently being done in a specialized ALS multidisciplinary clinic and which of these components could be applied in a general genetic counselling clinic.

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Neurogenetics of Multiple Sclerosis: From “Bench” to “Bedside”
Saturday November 5, 11:15 a.m. – 12:00 p.m.

 

A. Dessa Sadovnick, Ph.D., Professor, Medical Genetics and Neurology, University of British Columbia

Objectives:

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

  • Describe the relative roles of genes and environment in multiple sclerosis susceptibility and clinical course.
  • Describe the current state of knowledge for genetic screening and prenatal testing for multiple sclerosis.
  • Identify the most up-to-date information necessary for reproductive and genetic counselling in multiple sclerosis.
  • Identify the virtual MS Center for Excellence in Reproduction and Child Health (“MS-CERCH”).

Multiple sclerosis (MS) is the most common cause of neurological disability (other than trauma) in young adults. Important factors in the pathophysiology of MS include genes, environment and interactions thereof. The excess of MS cases among biological relatives has clearly been shown to result from genetic sharing rather than shared family environment. Multicase, multi-generational families have long been identified but only recently has a potential pathogenic mutation been identified in a small number of families. The talk will show how basic neurogenetic and epidemiological studies can move from “bench” (research labs and analyses) to “bedside” (genetic and reproductive counselling).

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