Sessions Descriptions

Sessions

Intergenerational Communication - Bridging the Gap in Healthcare Education - Dr. Jennifer MacKenzie

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

  • Identify personal perspectives on teaching and learning based on the characteristic values of different generations.
  • Distinguish the gap in expectations typical for different generations.
  • Analyse how differences in communication can lead to misunderstanding and tension.
  • Reflect on how to adjust teaching style, feedback, mentoring, and learning, to align with current learners
  • Assess how CBME aligns with values of the millennial generation.

Description:

In North America, health care providers continue to work past traditional retirement ages, while the younger generation, including Millennials and Generation Z, account for nearly all residents, resulting in multiple generations in medical schools and clinical practice. Generational differences contribute to expectations, educational philosophy, and learning preferences. Millennials, notwithstanding diverse backgrounds and personalities, are typically characterized as highly motivated to achieve, technologically advanced, less self-reliant needing more support and structure, optimistic and confident, mindful of their own wellness, and committed improve society. These traits contrast with those of other generations increasing the risk of misunderstanding, and conflict. Therefore, an understanding of the diversity in values between generations by educators and learners has the potential to improve educational outcomes as both have the potential to learn from each other. Considerations when developing educational sessions include the use of self-directed learning, digital resources, experiential learning, and attention to wellness in the context of explicit relevance, ongoing support, and clear expectations. Competency based medical education (CBME), including milestones and entrustable professional activities, focuses on transparency, personalized learning, and frequent formative assessment, which aligns with the typical learning preferences of Millennials. CBME also provides a framework for remediation due to frequent assessments and feedback.

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Human pathology revisited through clinical genomics - Fowzan Sami Alkuraya

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

  • Describe how clinical genomics can reveal novel pathological mechanisms of known human diseases.
  • Associate how the discovery of novel disease genes and syndromes will provide novel insights into the structure and function of the human body.
  • Restate how clinical genomics can define the “druggable” genome to accelerate the development of novel therapeutics for human diseases. Describe the social and psychological experiences of people of all ages and ethno-cultural heritages living with genetic, physical, behavioral and cognitive conditions.

Description:

Understanding mechanisms of diseases is at the core of the discipline of pathology. Although studying diseases at the molecular level has been carried out for decades, the ability to link diseases to their underlying molecular etiology in an unbiased fashion represents a very recent trend that forms the foundation of clinical genomics. Such an unbiased approach has lived up to its promise of revealing novel pathologies that defy predictions based on prior knowledge, thus expanding the horizons of human pathology at an unprecedented pace. This revolution in our understanding of the molecular underpinning of human physiology and pathology through clinical genomics also promises to revolutionize our approach to therapeutics with the druggable genome being the latest trend in target discovery and validation. Importantly, the implications of such developments are far from limited to Mendelian diseases. Indeed, the concept of druggable genome is primarily conceived for the treatment of common disorders.

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Tumor-First Testing Workshop: Somatic and Germline Cancers - Tracy Stockley

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

Recently new cancer drugs have been approved in Canada that are active in cancer patients with either somatic (acquired) or germline (inherited) BRCA variants. One effective approach to capturing all BRCA-positive patients who may benefit from such treatment is to test the tumor tissue first, as this will identify both somatic and germline BRCA mutations. However this new approach also provides challenges, such as the best methods for tumor testing, how to investigate and report the significance of variants identified in tumor tissue, and how to include clinical genetics in the confirmation of germline variants and subsequent management of patients with inherited variants. This workshop will use interactive case examples to discuss the current issues in tumor-first testing for somatic and germline cancers.

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Coding Variants Without Coding: The Clinical Geneticist and the .vcf file - William Gibson

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

As the number of patients who remain unsolved after NGS panels and exomes increases, clinical geneticists and diagnostic laboratories face a challenge in managing data generated on their patients by external service providers. In theory, best practice would be to request, store and reanalyze variant files when novel diagnoses appear in the literature and/or candidates emerge via GeneMatcher. However, resources to do this in a systematic way are not ubiquitous. This workshop will address these challenges and will provide worked examples of how to analyze .vcf files using tools available on the web. Facility with Linux and command-line code not required.

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Mitochondrial Diseases: Genetics, Diagnostics and Ethics.
Chair: Mark Tarnopolsky

Mark Tarnopolsky (40 mintues):  Mitochondrial cytopathies—overview and treatment options. 

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

1. Describe mitochondrial biology and pathophysiology.
2. Develop a clinical approach to the diagnosis of mitochondrial disease.
3. Choose treatment options for patients.

Lauren MacNeil (20 Minutes):  Biochemical enzyme testing for mitochondrial diseases in the era of molecular testing.

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

  1. Relate ro currently available biochemical laboratory tests to mitochondrial function
  2. Identify how molecular genetic analysis has changed the ordering of biochemical testing
  3. Describe limitations to the expansion of biochemical testing for mitochondrial disease

Description:

This presentation will review the current biochemical testing options for disorders affecting mitochondrial pyruvate metabolism and oxidative phosphorylation available at The Hospital for Sick Children. For decades tissue biopsy enzyme testing has been considered the “Gold standard” for diagnosis of mitochondrial disease. Multiple inheritance patterns, multiple sources of DNA, tissue heteroplasmy, large number of mitochondrial proteins, cost, etc. originally made genetic diagnosis challenging; however, advancements in molecular technologies, reduction of cost and a less invasive procedure have resulted in a shift in early clinical testing strategies. Biochemical testing continues to be an important component of an accurate diagnosis as it confirms altered functional capacity associated with known pathogenic variants as well as assessing impact of variants of uncertain significance. This session will be of value to genetic counsellors and clinical geneticists involved in cases of suspected mitochondrial disease.


Stacey Hume (20 Minutes): The science behind diagnosing and preventing mitochondrial disorders.

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

1. Contrast the molecular analysis of a gene encoded by the nucleus vs. the mitochondria.
2. Classify mitochondrial genome variants.
3. Describe the mitochondrial replacement techniques available and review the technical challenges that have been reported

Forough Noohi (20 mintues): Ethical and Legal Implications of Mitochondrial Replacement Therapy (MRT).

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

  1. Analyze the most important controversies surrounding Mitochondrial Replacement Therapy (MRT) (in both research and clinical context)
  2. Describe the most cited challenges in the literature for clinical translation of MRT
  3. Contrast MRT’s ethical, policy, and legal frameworks of Canada vs. the UK and the US  

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Competence by Design: Philosophy, Principles and Practice - Jonathan Sherbino

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

  1. Define competency-based education
  2. List key arguments for a transition to CBME
  3. Describe supporting principles and philosophies of CBME

Description:

The transition to competency-based medical education is the most dramatic change in residency education in more than a century. The term CBME seems to be everywhere in medical education. But do we have a shared understand of what it means? Do we understand the rationale for this significant and resource intensive transition? This interactive large group session provides a rationale for this change with an emphasis on the key principles and practices that inform CBME.

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Giving Feedback - Denyse Richardson

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How to Apply CBC to Dysmorphology and Genetic Counselling - Linlea Armstrong

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CBD in Laboratory Education - Sherryl Taylor

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Forensic Genetics using Kinship Analysis and Ancestry Searching: The Intersection of Science, Law, and Policy - Frederick R. Bieber

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

  1. Explain the concepts of kinship analysis and the role of STR and SNP analysis for reconstruction of kindreds,
  2. Summarize the successes of DNA-based kinship testing in identification of missing persons and in resolving serious crimes, and
  3. Describe the policy choices and privacy debates surrounding collection and storage of DNA profiles from convicted offenders and the general public.

Description:
This presentation will focus on the technical, procedural, and policy aspects of genetic kinship analysis for human identification using STR and SNP profiling for investigation of serious crimes, identification of missing persons, human trafficking and reunification of recovered remains after war, genocide, and natural disasters. Advances in SNP profiling and ancestry searching offer new opportunities for success in each of these areas and also raise legal and policy questions surrounding implementation of law enforcement uses of data mining and genealogy to investigate serious crimes.

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DNA Testing in Support of Criminal and Other Investigations at Ontario's Centre of Forensic Sciences - Jack Laird

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

  1. Discuss how DNA testing is employed in support of investigations and judicial proceedings across Ontario,
  2. Identify the core and emerging technologies that underpin forensic DNA analysis today and into the future, including phenotypic testing, and
  3. Compare and contrast permissible forensic uses of Canada’s National DNA Data Bank relative to those in other jurisdictions, and explain how DNA profiles generated at the Centre of Forensic Sciences may be searched against this Data Bank.

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Panel Discussion -

Frederick R. Bieber
Patricia Kosseim
Jack Laird
At the end of the session, the participants will be able to:

  1. List a minimum of 3 emerging uses of DNA and/or databases of genetic information in forensic identification procedures.
  2. Describe the different types of "hits" that a forensic sample can generate when queried against a DNA database (e.g. Crime Scene to Crime Scene, Crime Scene to Offender, Volunteer Sample to Relative),with the privacy implications of each.
  3. Describe current controversies regarding the appropriate boundaries between an individual's privacy-based right to protection against unreasonable search or seizure, and recognition that the state’s interest in enforcing its laws will sometimes require some level of intrusion into the private sphere.

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Immunogenetics / Cancer David Chitayat

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The genetic landscape of severe combined immune deficiency in the era of newborn screening and high throughput genomic analysis - Dr. Luigi D. Notarangelo

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Immunogenetics of B-cell related diseases - Dr. Eyal Grunebaum

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Immunogenetics / Cancer Tuberculosis : a genetic disorder - Dr. Stephanie Boisson-Dupuis

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

  • Describe what causes MSMD and tuberculosis
  • Describe the important cellular factors during mycobacterial infections
  • List one genetic cause of MSMD and tuberculosis
  • Explain the benefits of genetic studies
  • Recognize cases of familial mycobacterial disease

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Tumor-First Testing Workshop: Somatic and Germline Cancers - Tracy Stockley

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Forensics Symposium
Forensic DNA Analysis and Data Curation in North America - Chair: William Gibson

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

  • List a minimum of 3 emerging uses of DNA and/or databases of genetic information in forensic identification procedures.
  • Associate how the discovery of novel disease genes and syndromes will provide novel insights into the structure and function of the human body.
  • Describe current controversies regarding the appropriate boundaries between an individual's privacy-based right to protection against unreasonable search or seizure, and recognition that the state’s interest in enforcing its laws will sometimes require some level of intrusion into the private sphere.

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Legal, Ethical and Social Implications of Expanding Canada’s National DNA Databank - Patricia Kosseim

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

  • Explain the legal history and evolution of Canada’s National DNA Databank.
  • Describe the underlying policy tension between the individual’s right to privacy and the public interest in ensuring public safety.
  • Discuss the broader legal, ethical and social implications of some of the emerging technologies and future directions being contemplated.

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Molecular/Cytogenetics Breakout - Dennis Bulman

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

  • Identify potential technical and interpretive issues in the molecular/cyto labs
  • Assess technical issues which are presented to some of our colleagues
  • Collaboration with fellow laboratorians to inform and educate ourselves and our peers
  • To identify and discuss issues which may be unique to our respective field

Description:
The Molecular/Cytogenetics Breakout Session is an opportunity to present unique cases, findings, unusual results in the context of the molecular or cytogenetics laboratories. Short 5-10 minutes presentations are delivered by members of our community, which they identify as important and informative. The purpose is to educate and inform. Presentations are encouraged from lab staff and their trainees and participation is open to all.

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