Session Descriptions

WEDNESDAY OCTOBER 10 – SHORT COURSE

 

 

Personalized Medicine: Our Role as Genetic Counsellors
Wednesday October 10, 8:30 a.m. – 9:00 a.m.

 

Christèle du Souich, Genetic Counsellor, Women’s Health Centre of BC

Objectives:

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

  • Describe the different definitions of Personalized or Precision Medicine.
  • Define some of the key roles Genetic Counsellors play in Precision Medicine.
  • Identify how our roles as Genetic Counsellors go beyond the popular definitions of Precision Medicine.

Personalized or Precision Medicine has been narrowly defined as a diagnostic test used to predict a drug response in an individual thus allowing specific treatment; nevertheless, many other definitions and interpretations of this term exist. As genetic counsellors, our role in the era of personalized medicine has brought forward some changes in the way we manage patients and their families. Currently the personalized medicine model has greatest applicability in the areas of cancer and cardiac genetics. In other areas, such as rare disease, this approach may not be as broadly applicable.

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A New Role for Genetics
Wednesday October 10, 9:00 a.m. – 9:40 a.m.

 

Lesley Turner, MD, FRCPC, FCCMG, Eastern Health and Memorial University

Objectives:

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

  • Examine the history of Clinical Genetics.
  • Discuss the impact of the rapid advances in technology on Clinical Genetics.
  • Hypothesize how Clinical Genetics will evolve to meet the challenges of our health care system with the aim to provide excellent patient care.

The field of Clinical Genetics has changed dramatically over the last 10 years. The ability to obtain comprehensive multi- gene panels, exome and whole genome sequencing has revolutionized Genetics. The rapid technological advances have been incredibly positive in that our diagnostic ability has tremendously improved and our molecular understanding of diseases is growing rapidly. This is leading and will continue to lead to better patient care. However, the advances have also led to many challenges. Our increased diagnostic ability comes along with:

  1. increased need for cascade screening
  2. increased number of incidental findings that require interpretation and counseling
  3. increased number of variants of unknown significance that require interpretation and counseling
  4. increased demand for testing

All of these require resources and unfortunately our growth in resources has not kept pace with the growth in technological advancements creating a significant disequilibrium. Our challenge consists of how to establish a new equilibrium.

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But What About After Exomes? New Technologies for Genetic Diagnosis
Wednesday October 10, 10:10 a.m. – 10:40 a.m.

 

Matthew Osmond, BSc, MSc, Research Coordinator at CARE for RA Children’s Hospital of Eastern Ontario

Objectives:

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

  • Summarize the current state of whole exome sequencing’s utility in rare disease diagnosis.
  • Identify new genomic technologies being used to help solve undiagnosed rare diseases.
  • List the advantages to using each of these technologies in rare disease diagnosis.

Care4Rare SOLVE is an extension of the FORGE Canada and Care4Rare Canada multisite initiatives, which aim to fully understand the molecular pathogenesis of unsolved rare diseases. With exomes now a part of routine clinical care in some provincial jurisdictions, the Care4Rare SOLVE project is moving towards defining the diagnostic utility of other technologies for rare genetic disease patients. This presentation will provide a high level review for genetic counsellors of what we predict will be the next technologies to be aware of in the Canadian clinic, including whole genome sequencing, transcriptome sequencing, deep sequencing for mosaicism, metabolomics, and epigenomics.

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Data Sharing: Improving Patient Care through Global Scientific Collaboration
Wednesday October 10, 10:40 a.m. – 11:00 a.m.

 

Brittney Johnstone, MSc, CGC, CCGC, Genetic Counsellor, The Hospital for Sick Children

Objectives:

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

  • Data Sharing: Improving Patient Care through Global Scientific Collaboration.
  • Discuss approaches to incorporating data sharing into practice.
  • Summarize the utility of structured data capture.

Patient specific data sharing is a rapidly changing topic in the field of genetics, which refers to the broad sharing of phenotypic and genomic information. Data sharing contributes to research discoveries and improved clinical care. Structured data capture assists in the collection of defined information in a standardized format, often supported by a comprehensive ontology. This facilitates data consistency, tracking, and sharing. This session will provide an overview of data capture and a discussion of the current state of patient data sharing in genetics, including ethical considerations and translation into practice.

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Overview of Genomic Matchmaking and Matchmaker Exchange
Wednesday October 10, 11:00 a.m. – 11:20 a.m.

 

Danielle Azzariti, MS, CGC, Senior Genetic Counselor, Broad Institute

Objectives:

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

  • Summarize the clinical utility of genomic matchmaking.
  • Gain practical knowledge of how to incorporate genomic matchmaking into clinical, laboratory, or research practice.
  • Compare existing matchmaking databases connected through Matchmaker Exchange.

This presentation will address the challenge of exome and genome sequencing wherein most patients lack a clear diagnosis after analysis. Finding an additional patient with a deleterious variant in the same gene and overlapping phenotype may provide evidence to causally implicate the gene, enabling diagnosis. Multiple consortia have established services to facilitate such matching. To unify efforts, an international collaboration called Matchmaker Exchange launched a platform to facilitate the identification of cases with similar phenotypes and genotypes and harness data across these datasets. This presentation will provide an overview of genomic matchmaking, introduce Matchmaker Exchange and highlight use cases.

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Strategies for Rare Disease Diagnosis and Discovery – The Undiagnosed Diseases Network Experience
Wednesday October 10, 11:20 a.m. – 11:40 p.m.

 

Kimberley LeBlanc, MS, Associate Director of Research Operations, Undiagnosed Diseases Network Coordinating Center, Harvard Medical School

Objectives:

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

  • Describe the benefits and challenges of incorporating basic research into the diagnostic process.
  • Identify tools used in the evaluation of participants in the Undiagnosed Diseases Network.
  • Recognize how data sharing efforts can be leveraged to improve rare disease diagnosis.

The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established in 2008 to provide answers for patients and families affected by undiagnosed conditions. Based on the success of the NIH UDP, the NIH Common Fund elected to support the extension of the program into a network of medical research centers, the Undiagnosed Diseases Network, in 2013. By encouraging partnerships between clinicians and basic scientists, the network is setting the stage for novel discoveries in the field of rare disease. This session will focus on the importance of basic research and data sharing in generating new knowledge of these conditions.

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Pharmacogenetics in the Clinic: Ready for Primetime?
Wednesday October 10, 1:30 p.m. – 2:15 p.m.

 

Andrea Paterson, BSc (Gen), BSc (Pharm), RPh, Clinical Pharmacist, Team Lead in Pharmacogenetic, Algorithm Development, GenXys Health Care

Objectives:

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

  • Summarize the history and evolution of pharmacogenetics.
  • Identify guidelines and resources that can aid in assessing the clinical utility of pharmacogenetic test results.
  • Examine the current landscape of pharmacogenetics implementation in Canada.

Pharmacogenetics is an emerging field in personalized medicine that has the potential to greatly improve drug effectiveness and safety. The potential of pharmacogenetics to reduce adverse drug reactions and provide significant cost savings to the Canadian healthcare system has not been fully realized due to a lack of patient and clinician knowledge, a lack of high quality evidence, testing costs and availability, and regulatory concerns. The aim of this session is to assess how pharmacogenetics can impact a genetic counsellor’s practice and to address potential barriers to pharmacogenetic implementation and solutions to overcome them.

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Proactive Genetic Screening in a Primary Care Setting
Wednesday October 10, 2:15 p.m. – 3:00 p.m.

 

Allison Hazell, Clinical Director Genetics, Medcan

Objectives:

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

  • Summarize the prevalence of pathogenic and likely pathogenic mutations in an unselected (“healthy”) population.
  • Provide recommendations for genetic counsellors based on our experience with this screening program.
  • Evaluate challenges, implications and provide recommendations for genetic counsellors based on our experience with this screening program.

In this presentation, we describe an elective genetic screening program in a high volume clinical setting. We will review the results of and discuss the potential challenges, implications, and recommendations for the future of genomic screening in the “healthy” population. This lecture is relevant to individuals who are interested in the integration of genetics into mainstream medicine and/or proactive and preventive genetic screening programs.

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A Brave New World? Ethical Considerations for the Future of Genetic Counselling
Wednesday October 10, 3:30 p.m. – 4:15 p.m.

 

Alice Virani, MA (Oxon, MS, MPH, Director, Ethics Service, Provincial Health Service Authority of BC. University of British Columbia

Objectives:

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

  • Examine ethical issues in genetic counseling practice from a historical, current and future looking perspective.
  • Identify genetic counselors’ perspectives on key ethical issues for future practice through an interactive audience participation poll.
  • Critique ethical principles, tools and frameworks that may be applied to help resolve ethical issues in genetic counseling practice.

This interactive presentation will explore the evolution of ethical issues in genetic counseling practice in the past, at the current time, and into the future including pharmacogenomics, proactive screening, data sharing and personalized medicine. Through examining ethical issues in GC practice through a professional, clinical and public health lens, participants will understand how ethical tools, principles and frameworks may be applied to address such issues in different contexts. Participants will come away with practical knowledge as to how to predict ethical issues before they arise as well as how to develop guidelines and frameworks to resolve them in a proactive manner.

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Panel Discussion
Wednesday October 10, 4:15 p.m. – 5:15 p.m.

 

Moderator: Christèle du Souich, Genetic Counsellor, Women’s Health Centre of BC

Panelists:

Danielle Azzariti, MS, CGC, Senior Genetic Counselor, Broad Institute

Allison Hazell, Clinical Director Genetics, Medcan

Brittney Johnstone, MSc, CGC, CCGC, Genetic Counsellor, The Hospital for Sick Children

Kimberley LeBlanc, MS, Associate Director of Research Operations, Undiagnosed Diseases

Matthew Osmond, BSc, MSc, Research Coordinator at CARE for RA Children’s Hospital of Eastern Ontario

Andrea Paterson, BSc (Gen), BSc (Pharm), RPh, Clinical Pharmacist, Team Lead in Pharmacogenetic, Algorithm Development, GenXys Health Care

Lesley Turner, MD, FRCPC, FCCMG, Eastern Health and Memorial University

Alice Virani, MA (Oxon, MS, MPH, Director, Ethics Service, Provincial Health Service Authority of BC. University of British Columbia

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 landscape is changing.

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Social Media and Digital Professionalism
Thursday October 11, 8:50 a.m. – 9:20 a.m.

 

Gerard Farrell, MD, Director, eHealth Research Unit, Faculty of Medicine, Memorial University of Newfoundland

Objectives:

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

  • Articulate the opportunities and perils of social media.
  • Knowledgeably decide on their level of engagement with social media.
  • Mitigate the risks while using social media.

Social media pervades western society. It is difficult not to have some presence on social media. Examples of misadventure are frequent and daunting. As professionals, we are held to different standards the require us to be more mindful of our exposure online. This presentation is designed to offer some guidance as to the pitfalls and how to avoid them.

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To Friend or Not to Friend? The Ethics of Social Media in Genetic Counseling
Thursday October 11, 9:20 a.m. – 10:00 a.m.

 

Alice Virani, MA (Oxon), MS, MPH, Director, Ethics Service, Provincial Health Services Authority of BC, University of British Columbia

Objectives:

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

  • Summarize ethical issues present in social media including: crowd funding, ‘friending’, and Googling your patients.
  • Through case based scenarios and audience polling, evaluate different options for resolving such dilemmas.
  • Apply ethical principles and frameworks to identify ethically defensible courses of action for a variety of scenarios involving genetic counseling and social media.

Through this fun and interactive session participants will be asked to consider a variety of ethical dilemmas which may arise when genetic counselors use social media and other web based platforms. Case discussion will allow participants to understand the ethical issues that arise when asked to ‘friend’ a patient through forums such as Facebook or Linkedin; whether or not it is ever acceptable to ‘Google’ a patient; and how to respond to request to support or advocate for crowdsourcing.

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Exploring Canadian Genetic Counsellors Compensation Strategies for Collectively Advancing our Professional Compensation Profile
Wednesday October 10, 2:30 p.m. – 3:30 p.m.

 

Allison Hazell, Clinical Director Genetics, Medcan

Christopher Trevors, BScH, MS, CGC, National Director, Genetic Health Solutions, Dynacare

Objectives:

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

  • Define the current compensation structures for genetic counsellors.
  • Compare and contrast negotiation timing and techniques to ensure fair compensation is obtained.
  • Evaluate current obstacles that exist for genetic counsellors in the workforce.
  • Brainstorm strategies to overcome these obstacles.

Genetic counsellor “stock” is rising. Demand for our services is outpacing supply, and the variety of work opportunities continues to increase. While we excel at advocating for our patients, we rarely take the time to focus on effectively advocating for ourselves. Although it can be uncomfortable, it is imperative that we have an honest conversation about what we are worth, review current challenges that exist for genetic counsellors in the workforce, and brainstorm strategies to overcome these obstacles. By learning to better advocate for ourselves as individuals, we will be better prepared to collectively lift-up the professional compensation profile.

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Sequence Variant Interpretation, Managing the “U” in VUS
Thursday October 11, 3:30 p.m. – 4:30 p.m.

 

Melanie Care, MSc, CCGC, Genetic Counsellor, University Health Network Toronto General Hospital

Justin Lorentz, MSc, CGC, Genetic Counsellor, Male Oncology Research and Education (MORE) Lead, Sunnybrook Odette Cancer Centre

Jeanna McCuaig, MSc, CGC, CCGC, Genetic Counsellor, University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre

Oana Morar, MSc, CGC, CCGC, Genetic Counsellor, University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre

Objectives:

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

  • Apply current guidelines used in sequence variant interpretation.
  • Examine available tools that may be of use to genetic counsellors in sequence variant interpretation.
  • Identify the challenges associated with the application of current guidelines in the context of current and historical results.
  • Utilize available resources for variant analysis in clinical practice.

The aim of this workshop will be to provide a theoretical framework for variant interpretation using relevant case examples from hereditary cancer clinics. This will involve a review of current variant classification guidelines (2015 ACMG guidelines) and an introduction to important publicly accessible tools and databases used in variant interpretation. It will also provide participants with the opportunity to use these tools to interpret variants taken from real-life clinical scenarios, critically evaluate lab reports, and to engage in a dialogue about how laboratories and clinicians can use their unique skills and knowledge to work together to provide the most appropriate variant interpretations.

The target audience is genetic counselors and other genetics professionals involved in clinical genetics care.

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Quality Improvement in Clinical Genetics: An Problem-Solving Approach to Addressing Lengthy Wait Times
Thursday October 11, 5:00 p.m. – 6:00 p.m.

 

Christina Honeywell, MSc, CCGC, Professional Practice Leader and Coordinator, CHEO

Objectives:

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

  • Describe the five steps to the DMAIC methodology for improvement.
  • Classify wait-list reduction strategies by their impact on demand, capacity, process or outcomes.

Many Genetics clinics struggle with lengthy wait times. As key players in clinical genetics services, Genetic Counsellors (GC’s) capacity to care for patients is a critical part of the process. Participation of GCs in the design of solutions to wait list problems will ensure that professional practice is maintained while access is improved.

This workshop will describe a framework for understanding wait times and a problem-solving approach that can help GCs to identify the root-cause of access issues in their own centres of practice. The target audience for this workshop is GCs in centres facing lengthy wait times; however, the approach is generalizable to any quality improvement initiative.

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Using Registry Data to Inform Policy: the Ontario Experience
Friday October 12, 10:30 a.m. – 11:00 a.m.

 

Shelley Dougan, MPA, MSC, CGC, Manager, Prenatal Screening and Complex Perinatal, BORN Ontario

Objectives:

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

  • Describe the purpose and function of a prescribed registry.
  • Compare registry data.
  • Illustrate how registry data can be used to inform and support quality assurance activities
    .

The Better Outcomes Registry and Network (BORN Ontario), is the province’s prescribed maternal, newborn and child registry. Created in 2009, the Registry now holds data on over 2 million individuals, including over 1.2 million babies and children. This presentation will describe the implementation and growth of the BORN Registry, how the data collected by the registry is protected, used, and shared, BORN’s role in informing the development of health policy in the maternal and child landscape in Ontario, with a focus on its responsibility for managing the province’s new Prenatal Screening Program.

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Parenting a Child with Down Syndrome: Ethical Implications for Prenatal Testing
Friday October 12, 11:00 a.m. – 11:30 p.m.

 

Christopher Kaposy, PhD, Associate Professor of Bioethics, Memorial University, Division of Community Health and Humanities, Faculty of Medicine, Health Sciences Centre

Objectives:

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

  • Enumerate evidence showing that families that include children with Down syndrome typically function well.
  • Apply the evidence about family well-being to the ethical debate about prenatal testing and selective abortion for Down syndrome.
  • Examine the arguments about the ethics of prenatal testing for Down syndrome in light of the evidence about parenting a child with Down syndrome.

In this presentation, I will summarize some of the research evidence about what it is like to parent a child with Down syndrome. There
has been abundant research into the well-being of people with this condition, and into the functioning of their families. People with Down syndrome tend to enjoy their lives, and their families tend to function as well as families that include only nondisabled children. Nonetheless, when Down syndrome is diagnosed prenatally, a majority of prospective parents choose to terminate their pregnancies. I will use the research evidence about positive family experiences when parenting a child with Down syndrome to suggest that more prospective parents should choose to bring children with Down syndrome into their families. My target audience includes genetic counsellors who are involved with counselling these prospective parents.

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Prenatal/Reproductive: Genetic Counselling in the Fertility Clinic: The Mount Sinai Experience
Friday October 12, 2:00 p.m. – 3:15 p.m.

 

Marie Injeyan, BAH, MSc, CGC, CCGC, Genetic Counsellor, Mount Sinai Hospital

Diane Myles Reid, MSc, CGC, Genetic Counsellor, Prenatal Diagnosis & Medical Genetics Program, Frances Bloomberg Centre for Women’s and Infant’s Health, Mount Sinai Hospital

Objectives:

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

  • Define the role of genetic counsellor in the Assisted Reproductive Technologies/Fertility setting.
  • Examine the use of next generation sequencing in pre-implantation genetic testing for aneuploidy.
  • Evaluate the significance of new testing technologies including NIPT and expanded carrier screening panels in the fertility setting.

Genetic counselling is integral to the decision-making process for individuals/couples considering pre-implantation genetic testing for
aneuploidy (PGT-A) and/or monogenic disorders (PGT-M) in conjunction with in-vitro fertilization (IVF). Next Generation Sequencing (NGS) has become widely employed as the preferred testing modality for PGT-A. We examine the limitations of NGS including the detection of chromosomal mosaicism in the embryo and its associated ethical and pragmatic considerations. Additionally, we will consider the impact of newer technologies such as non-invasive prenatal testing (NIPT) and expanded carrier screening panels in the fertility setting. Drawing on our clinical experiences at Mount Sinai Fertility and sharing specific case examples, we will explore the evolving and expanding role of the genetic counsellor in the ART/Fertility Clinic.

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Cardiogenetics: A Cardiac Genetic Clinic/Research Model: Lessons Learned from the Past Two Decades
Friday October 12, 2:00 p.m. – 3:15 p.m.

 

Fiona Curtis, CCGC, GCGC, BSc, MSc, MSc, Genetic Counsellor-Eastern Health, Provincial Medical Genetics Program

Kathy Hodgkinson, Associate Professor, Memorial University, Craig Dobbin Centre for Genetic Research, Faculty of Medicine Memorial University

Objectives:

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

  • Identify the relationship between research and clinical care for inherited heart conditions with a high risk of sudden cardiac death (SCD).
  • Share our current understanding and management policy for Arrhythmogenic Right Ventricular Cardiomyopathy( ARVC) due to the p. S358L mutation in TMEM43, and describe the work that has informed these changes.
  • Review how our research design and clinical care model is being used to inform work with other genetic diseases.

We share 20 years of experience of a multidisciplinary team in cardiac genetics working with families at high risk for sudden cardiac death. Attendees will learn of the scope of the problem and the evolving clinical research that was necessary to care for families with SCD as a potential (and immediate) clinical outcome. The primary investigator, a genetic counsellor, and her colleague will highlight the design strategy that was necessary to produce the results which now inform policy and procedure using the team experience with the p.S358L mutation in TMEM43 causing ARVC. We will share the challenges (clinical and ethical) that have arisen while caring for individuals living with this condition. We will review our current approach to treatment, and the updated screening recommendations for management of at risk family members. We will engage the participants in discussion surrounding the need for robust research strategies when attempting to understand the complexities of genetic disorders.

Target Audience: Genetic Counsellors and any health care worker involved in clinical genetics.

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Cancer: Prostate Cancer and What GCs Need to Know
Friday October 12, 2:00 p.m. – 3:15 p.m.

 

Justin Lorentz, MSc, CGC, Genetic Counsellor, Male Oncology Research and Education (MORE) Lead, Sunnybrook Odette Cancer Centre

Objectives:

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

  • Apply key components of prostate cancer pathology and treatment to pedigree acquisition and interpretation for hereditary prostate cancer.
  • Identify families that meet our current (and changing) understanding hereditary prostate cancer.
  • Evaluate prostate cancer risk in unaffected men with a family history of prostate cancer using evidence-based empirical data.

The aim of this workshop is to explore the fundamentals of prostate cancer in the individual, hereditary prostate cancer in families, and prostate cancer risk assessment for unaffected patients with a family history of prostate cancer. This will include a practical overview of prostate cancer, how it is screened, and how it is treated with the intention of providing tools for genetic counsellors to ask targeted questions when taking a family and/or personal history. This workshop will also explore the current landscape of genetic testing for hereditary prostate cancer (2017 Prostate Cancer Consensus Conference) as well as provide evidence-based empirical risks for prostate cancer in unaffected men with a family history of prostate cancer.

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General: Private Pay Testing: Patients Taking Matters into Their Own Pockets
Friday October 12, 3:45 p.m. – 5:00 p.m.

 

Jessica Baker, BSc (Hons), MSc, CGC, Certificed Genetic Counsellor, Pacific Centre for Reproductive Medicine

Nicole Gojska, MSc, MSc, CGC, CCGC, Genetic Counsellor, Women’s College Hospital

Objectives:

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

  • Examine the implications of private pay and direct to consumer genetic testing.
  • Identify current strategies for discussing and offering private pay testing to patients within a public healthcare system.
  • Using concrete examples, examine how private pay testing is infiltrating and changing genetic testing for patients in Canada.

This workshop is intended for any genetic counsellors interested in discussing the numerous ways in which private pay genetic testing is affecting our practices. Is direct to consumer and private pay genetic testing still the elephant in the room? As these option become more readily available and affordable, how is it affecting or changing the way genetic testing is integrated into clinical care within a public healthcare system. Two genetic counsellors will speak to their unique perspectives and share patient cases. Additionally, we will summarize the experiences from ‘The Screen Project’ (www.thescreenproject.ca), a population-based, private pay research study offering BRCA1 and BRCA2 genetic testing across Canada.

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Ethics: Moving Beyond Principlism: How do We Use an Ethical Approach to Genetic Counselling?
Friday October 12, 3:45 p.m. – 5:00 p.m.

 

Sari Zelenietz, MSc, MA, CCGC, Newborn Screening Ontario

Objectives:

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

  • State the limitations and critiques of Beauchamp and Childress’s principles of bioethics.
  • Summarize the major ethical theories and their contributions to medical ethics.
  • Apply different ethical frameworks to morally complex cases.

In 1985 Beauchamp and Childress published the “Principles of Biomedical Ethics.” Using autonomy, beneficence, non-maleficence, and justice quickly became the standard framework used to analyze ethical problems in medical decision making. Philosophical critiques note that because these principles are not derived from a unified moral theory, they serve no justificatory function, lack a relationship to each other, often conflict, and in practice are applied unevenly. This session will review the major philosophical theories with an emphasis on the Ethic of Care and discuss how using different moral theories helps guide thinking about morally complex problems.

Target audience: Genetic counselors and those involved in medical decision making.

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Newborn Screening: The Evolution of Newborn Screening and It’s Impact on Genetic Counselling
Friday October 12, 11:45 a.m. – 12:30 p.m.

 

Sara Fernandez, MSc, CCGC, Genetic Counsellor, Newborn Screening Ontario

Objectives:

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

  • List criteria used to guide the evolution of newborn screening.
  • Illustrate how this criteria is used to determine if a condition should be added to or removed from a newborn screening panel.
  • Evaluate the impact newborn screening may have on genetic counselling services.
  • Identify conditions currently screened for through newborn screening in Canada.

The primary goal of newborn screening is the early identification of affected infants so that early intervention can be initiated to reduce or prevent serious health problems. In Canada, newborn screening falls under the mandate of the provincial government and therefore the conditions that a newborn is screened for will depend on the province in which they’re born. This workshop will examine the process of adding/removing diseases to newborn screening panels. We will also explore how advancements in newborn screening may influence the practice of genetic counselling as the methods used to identify diseases through newborn screening evolve and new treatments become available.

Target audience: genetic counsellors, geneticists, pediatricians, family physicians, laboratory staff, nurses and health care providers involved in the care of infants and families affected by conditions screened for through newborn screening.

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Overview of Treatment in Genetic Disease: Stories from the Treatment of Lysosomal Storage Diseases
Saturday October 13, 8:30 a.m. – 9:20 a.m.

 

Stacy Hewson, MSc, CCGC, CGC, Genetic Counsellor, The Hospital for Sick Children

Objectives:

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

  • Summarize current therapeutic approaches to treat lysosomal storage diseases.
  • Examine the role of the health care professional in identifying, evaluating and advocating for therapy.
  • Identify ethical issues related to treatment.

Treatment options for rare genetic conditions are rapidly being discovered. The largest group of treated conditions exists within the field of lysosomal storage disease and provide a framework for treatment options and challenges within other areas of genetics. After a review of lysosomal storage conditions, a summary of the current therapeutic approaches including bone marrow transplant, enzyme replacement , substrate reduction, chaperone therapy, and gene therapy will be presented with examples. In this new era of treatment, genetic counsellors also need to explore our responsibilities in identifying, evaluating and advocating for expensive therapies as well as facing the ethical issues that may arise particularly related to access to treatment. This talk will target genetic counsellors working in clinical practice.

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Clinical and Molecular Complexity of Hereditary Eye Diseases: How This Affects the Potential for Treatment
Saturday October 13, 9:20 a.m. – 10:00 a.m.

 

Jane Green, OC, ONL, BSc, MSc, PhD, Honorary Research Professor, Discipline of Genetics, Surgery (Ophthalmology), Oncology, Memorial University of Newfoundland, Medical Genetics, Craig L. Dobbin Genetics Research Centre

Objectives:

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

  • Compare the clinical features of the major hereditary eye diseases.
  • State why so many different molecular defects can cause the same or similar disease.
  • Summarize the difficulties in developing a treatment for each person with a hereditary eye disease.

Hereditary eye diseases are a common cause of severe vision loss, and because of their frequent early onset, can have a significant impact on education, employment and life style. Clinical studies to define the progression of disease, can help with planning and rehabilitation for those affected. Because of the severity of vision loss, patients have also requested treatment. Molecular genetic studies show a surprising diversity of genes and mutations even for the more common diagnoses of Retinitis Pigmentosa or ‘Hereditary macular dystrophy’. This diversity complicates the development of therapies, because each defective gene must be treated differently.

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Prevent Ovarian Cancer Program: An Alternative Service Delivery Model for Hereditary Cancer
Saturday October 13, 10:30 a.m. – 11:15 a.m.

 

Jeanna McCuaig, MSc, CGC, CCGC, Genetic Counsellor, University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre

Objectives:

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

  • Identify existing gaps in genetic testing for ovarian cancer.
  • Evaluate the benefits and limitations of a modified genetic counselling method to increase patient access to genetic testing.

The Prevent Ovarian Cancer Program (POCP) is an Ontario-wide initiative aiming to increase access to genetic testing for hereditary ovarian cancer among women who may be at high-risk. This presentation will highlight the development and implementation of the POCP, describe an alternative model of genetic counselling used, and provide the results of a non-inferiority analysis completed to compare this model with traditional genetic counselling models. Expansions of the POCP, including direct recruitment and tumour-first genetic testing, will also be discussed.

Target audience: clinicians specializing in cancer genetics and individuals interested in alternative models of genetic service delivery.

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Where Are We Going as a Profession – A Status Update of Professional Regulation in Canada
Saturday October 13, 11:15 a.m. – 12:00 p.m.

 

Nathalie Bolduc, MSc, CCGC, CGC, Director of Clinical Genetics, Genetic Counsellor, BiogeniQ / Biron Health Group

Susan Creighton, Genetic Counsellor, UBC Clincial Associate Professor, BC Cancer Hereditary Cancer Program

Objectives:

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

  • Define regulation for genetic counsellors in Canada.
  • Identify how new opportunities and challenges faced by genetic counsellors today may further drive the need for regulation.
  • Summarize the various efforts done across the country to explore and achieve regulation
    .

Our profession is changing rapidly as new opportunities and challenges present themselves. Professional regulation is becoming increasingly important to ensure protection of the public and to support more autonomy for genetic counsellors and promote increased access to genetic counselling services. We will present a summary of the various efforts towards obtaining professional regulation that took place across the country in recent years. This session will be an occasion to discuss options, exchange ideas and concerns about professional regulation.

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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.