Prof Sandi Deans

• Describe the foundational principles of genomic quality assurance and its role in ensuring patient safety and diagnostic accuracy across clinical and research settings.
• Recognize the global and institutional drivers for implementing quality frameworks, including accreditation standards (e.g., ISO 15189) and the impact of quality metrics on clinical decision-making.
• Outline the structure, scientific scope, and intended outcomes of the masterclass, including how each session addresses identified learner gaps in genomic testing and quality improvement.

Speaker: Prof Sandi Deans

• Explain the mission, structure, and scope of GenQA as a provider of external quality assessment (EQA) in genomic medicine.
• Identify the types of EQA schemes offered by GenQA and how they support quality improvement in germline, somatic, and reproductive genomics.
• Understand the role of GenQA participation in laboratory benchmarking, performance assessment, and meeting international accreditation standards (e.g., ISO 15189, CAP).

Speaker: Bettina Quellhorst

• Differentiate between key accreditation frameworks (e.g., ISO 15189, CAP) and describe their role in ensuring compliance, competency, and continual improvement in genomic laboratories.
• Evaluate real-world case studies that highlight the consequences of inadequate quality management and the benefits of implementing robust Quality Management Systems (QMS).
• Apply lessons learned from external audits, incident reports, and corrective action plans to improve internal quality practices and prepare for successful accreditation.

Speaker: Bettina Quellhorst

• Differentiate between key accreditation frameworks (e.g., ISO 15189, CAP) and describe their role in ensuring compliance, competency, and continual improvement in genomic laboratories.
• Evaluate real-world case studies that highlight the consequences of inadequate quality management and the benefits of implementing robust Quality Management Systems (QMS).
• Apply lessons learned from external audits, incident reports, and corrective action plans to improve internal quality practices and prepare for successful accreditation.

Speaker: Prof Sandi Deans

• Define individual competency assessment in the context of genomic diagnostics and explain its role in ensuring staff proficiency and patient safety.
• Identify key components of a competency assessment framework, including initial training, ongoing evaluation, documentation, and remediation.
• Interpret examples of competency gaps from real laboratory settings and outline strategies for implementing effective, role-specific assessments aligned with accreditation requirements.

Speaker: Prof Sandi Deans

• Summarize the objectives, design, and outcomes of the 100,000 Genomes Project and its impact on integrating genomics into mainstream healthcare.
• Identify key lessons learned in quality assurance, data interpretation, and reporting from large-scale genomic implementation across clinical services.
• Apply insights from the project to inform best practices in establishing national genomic programs, with a focus on sample handling, variant classification, and multidisciplinary reporting.

Speaker: Prof Sandi Deans

• Describe the structure and strategic objectives of the NHS Genomic Medicine Service (GMS) in England, including its integration into routine healthcare.
• Explain how standardized testing pathways, quality assurance frameworks, and national genomic laboratory networks contribute to consistent and equitable patient care.
• Evaluate how lessons from the GMS model can inform the development and scaling of genomic services in other healthcare systems, with emphasis on governance, data sharing, and clinical utility.

Speaker: Bettina Quellhorst

• Define External Quality Assessment (EQA) and distinguish it from internal quality control (IQC) within the context of genomic laboratory services.
• Explain the purpose and benefits of participating in EQA schemes, including benchmarking performance, identifying errors, and supporting continuous improvement.
• Interpret EQA results and feedback to drive corrective actions, enhance reporting accuracy, and meet accreditation requirements (e.g., ISO 15189, CAP).

Speaker: Prof Sandi Deans

• Identify frequently observed errors in EQA submissions across different genomic test types (e.g., NGS, arrays, NIPT) and understand their root causes.
• Evaluate the impact of these errors on diagnostic accuracy, clinical interpretation, and patient safety using real case examples from past EQA rounds.
• Develop strategies to prevent common EQA pitfalls by improving internal review processes, staff training, and adherence to standardized reporting guidelines.

Speaker: Prof Sandi Deans

• Demonstrate the ability to assess genomic laboratory reports in real time using EQA assessor criteria and scoring rubrics.
• Apply standardized benchmarks to evaluate accuracy, clarity, and clinical relevance in genomic test reporting across various modalities.
• Critique anonymized submissions through guided peer review and provide constructive feedback aligned with best practice and accreditation standards.

Speaker: Prof Sandi Deans

• Describe emerging technologies and methodologies impacting genomic quality assurance, including advances in multi-omics, long-read sequencing, and AI-assisted variant interpretation.
• Recognize updates to international guidelines, accreditation standards (e.g., ISO 15189:2022), and evolving requirements in EQA schemes.
• Assess the implications of these developments on laboratory workflows, reporting practices, and workforce training needs to ensure continued service excellence.