Speaker: Erin Riggs

• Describe the mission, structure, and key components of the Clinical Genome Resource (ClinGen) initiative.
• Explain how ClinGen supports evidence-based variants and gene curation for rare disease diagnosis.
• Navigate major ClinGen resources and working group outputs relevant to clinical practice and research.

Speaker: Erin Riggs

• Explain the purpose and structure of ClinVar as a publicly available archive of variant interpretations.
• Identify the types of data submitted to ClinVar and how they are organized and displayed.
• Demonstrate how to search, interpret, and utilize ClinVar entries for clinical variant assessment.

Speaker: Erin Riggs

• Describe the ClinGen gene curation framework and its application to evaluating gene-disease validity.
• Identify key resources and databases that support gene curation efforts, including GenCC and expert panels.
• Apply gene curation criteria to assess gene-disease associations in the context of rare disease diagnostics.

Speaker: Erin Riggs

• Summarize the standard operating procedures (SOPs) used in ClinGen gene curation.
• Interpret real-world examples of gene-disease curation and how evidence is evaluated and scored.
• Apply the SOP framework to assess gene-disease validity through guided case-based discussions.

Speaker: Erin Riggs

• Collaborate effectively in a group setting to perform gene-disease validity curation using established ClinGen frameworks.
• Evaluate different types of evidence (genetic, experimental, case-level) through real-world gene curation examples.
• Justify classification decisions based on consensus discussions and ClinGen scoring guidelines.

Speaker: Erin Riggs

• Describe the purpose and structure of the Gene Curation Coalition (GenCC) and its role in harmonizing gene-disease validity assertions.
• Identify key contributors, data standards, and tools provided by GenCC to support gene curation.
• Utilize the GenCC database to explore and compare gene-disease validity classifications across different organizations.

Speaker: Erin Riggs

• Explain the structure, purpose, and population coverage of the Genome Aggregation Database (gnomAD).
• Interpret variant frequency data within gnomAD to assess potential pathogenicity in rare disease contexts.
• Demonstrate how to navigate and extract relevant information from gnomAD using variant- and gene-level queries.

Speaker: Erin Riggs

• Describe the principles and workflow of variant curation based on ACMG/AMP guidelines.
• Apply standardized criteria to assess variant pathogenicity using clinical and population data.
• Interpret curated variant evidence in the context of rare disease diagnosis and clinical decision-making.

Speaker: Erin Riggs

• Explain how ClinGen develops gene- and disease-specific specifications of the ACMG/AMP variant interpretation guidelines.
• Differentiate between general ACMG criteria and expert panel–specified modifications used in variant assessment.
• Apply ClinGen expert specifications to evaluate variants more accurately within specific gene-disease contexts.

Speaker: Erin Riggs

• Describe the ClinGen/ACMG framework for classifying copy number variants (CNVs) in clinical genomics.
• Evaluate CNVs using evidence categories such as gene content, dosage sensitivity, and population frequency.
• Apply classification guidelines to real-world CNV examples for diagnostic interpretation in rare disease cases.

Speaker: Erin Riggs

• Outline the end-to-end workflow of whole genome sequencing (WGS), from raw data generation to variant interpretation.
• Identify key tools and pipelines used in alignment, variant calling, annotation, and filtering in WGS analysis.
• Evaluate WGS data in the context of rare disease diagnosis, including detection of SNVs, CNVs, and structural variants.

Speaker: Erin Riggs

• Collaborate in a team setting to curate genetic variants using ACMG/AMP criteria and ClinGen expert guidance.
• Apply evidence-based classification frameworks to real case examples through group discussion and consensus-building.
• Demonstrate practical skills in navigating curation tools and databases (e.g., ClinVar, gnomAD, ClinGen) to support variant interpretation.

Speaker: Erin Riggs

• Analyze clinical case studies involving rare disease patients using structured genomic interpretation frameworks.
• Integrate genomic data, family history, and phenotypic details to support accurate variant classification.
• Formulate evidence-based conclusions and recommendations for diagnosis or further testing through case-based discussion.

Speaker: Erin Riggs

• Describe the role of GenomeConnect and similar patient registries in bridging genomic research and clinical care.
• Explain how patient-contributed data can support variant interpretation, data sharing, and reclassification efforts.
• Evaluate the impact of patient registries on longitudinal data collection, patient engagement, and evidence generation in rare diseases.

Speaker: Margaret Harr

• Articulate the goals, structure, and expected outcomes of the Genomic Quality Assurance Masterclass within the context of improving diagnostic excellence in genomics.
• Highlight the clinical and scientific importance of quality assurance, accreditation, and competency assessment in both germline and somatic genomic testing services.
• Describe how this masterclass addresses current gaps in practice, aligns with international standards, and supports national efforts in improving genomic service delivery.
• Define the scope and responsibilities of genetic counselors in the process of variant interpretation and communicating genomic results to patients and healthcare teams.
• Apply ACMG/AMP guidelines and clinical context to support classification and interpretation of variants of uncertain significance (VUS), pathogenic, and benign findings.
• Evaluate case-based examples where genetic counselor input directly influences variant reclassification, informed consent, and return-of-results discussions.

Speaker: Margaret Harr

• Describe the potential applications of open-access artificial intelligence tools in genomic diagnostics and their influence on clinical workflows and patient engagement.
• Evaluate the ethical, practical, and data governance considerations surrounding AI-driven tools in patient-facing genomic services, including informed consent and result communication.
• Assess how AI-enabled decision support systems can improve the patient experience by enhancing the accuracy, timeliness, and personalization of genomic test interpretation.

Speaker: Margaret Harr

• Define the structure and purpose of multidisciplinary care clinics (MDCCs) in the context of genomic medicine, particularly for patients with rare or complex genetic conditions.
• Describe the roles of various professional clinical geneticists, genetic counselors, laboratory scientists, and specialists—in coordinating care and delivering integrated genomic services.
• Evaluate the benefits and challenges of implementing MDCCs, including improved diagnostic accuracy, streamlined patient pathways, and enhanced communication between stakeholders.

Speaker: Margaret Harr

• Recognize the value of interdisciplinary teamwork in delivering high-quality genomic testing services, from sample processing to clinical interpretation and patient communication.
• Describe the roles and responsibilities of key team members—such as genetic counselors, lab scientists, quality managers, and clinicians—in maintaining quality standards and achieving accreditation.
• Apply strategies for effective communication, shared accountability, and continuous feedback within genomic teams to support a culture of quality and safety.

Speaker: Margaret Harr

• Outline the key components required to establish a successful multidisciplinary clinic (MDC) for genomic and rare disease care, including staffing, infrastructure, and referral pathways.
• Identify the logistical, regulatory, and operational challenges in launching an MDC, and explore solutions for integrating genomic testing and counseling into routine care.
• Develop a framework for implementing coordinated, patient-centered services across specialties, ensuring quality, efficiency, and continuity of care within the genomic clinic model.

Speaker: Margaret Harr

• Describe the structure and function of syndrome-specific multidisciplinary clinics (e.g., for Noonan syndrome, 22q11.2 deletion syndrome, or connective tissue disorders) and how they optimize genomic care delivery.
• Recognize the roles of clinical and allied health professionals in coordinating care for patients with complex, multisystem genetic syndromes.
• Evaluate the clinical, psychosocial, and operational benefits of syndrome-specific clinics in improving diagnosis, management, and long-term follow-up outcomes.

Speaker: Margaret Harr

• Summarize the core concepts, quality frameworks, and best practices presented throughout the masterclass, with emphasis on their relevance to clinical genomics and laboratory improvement.
• Identify practical tools, reference materials, and action plans that participants can use to implement quality assurance measures in their own settings.
• Commit to specific next steps for applying newly acquired knowledge and skills, including ongoing competency development, EQA participation, and quality improvement initiatives.