HSGI-01-P591 - RARE-GEN Clinical Masterclass: Advanced Variant Classification and Prioritization in Rare Disease Diagnosis

Thursday, October 23, 2025, 9:00 AM - Friday, October 23, 2026, 5:30 PM, Sidra Medicine, Doha, Qatar

DHP Credits - Category 1 (20.00 hours), General Attendance (20.00 hours), Non-Physician Participation Credit (20.00 hours)

This masterclass offers advanced, case-based training in variant classification for rare diseases. Participants will apply ACMG/AMP guidelines, use tools like ClinGen and gnomAD, and integrate regional genomic data to improve diagnostic accuracy, clinical reporting, and multidisciplinary collaboration in genomic medicine.

1. 1. Interpret rare disease variants using ACMG/AMP classification criteria with confidence within 3 months of completing the training.
2. 2. Apply evidence-based variant classification tools (e.g., ClinVar, ClinGen, GenCC) to real clinical cases immediately following the masterclass.
3. 3. Differentiate between pathogenic, likely pathogenic, and variants of uncertain significance (VUS) using standard guidelines in at least 80% of cases during clinical practice.
4. 4. Use population-specific databases like gnomAD to support variant filtering and prioritization within daily variant review workflows.
5. 5. Collaborate with multidisciplinary teams to complete joint gene or variant curation exercises during and after the masterclass.
6. 6. Identify gene-disease validity levels for rare conditions using ClinGen and GenCC resources in under 10 minutes per case by the end of the workshop.
7. 7. Incorporate copy number variant (CNV) interpretation frameworks into their diagnostic workflow within 1 month of training.
8. 8. Report genomic findings with improved consistency and clarity for patient-facing summaries and internal case meetings within 4–6 weeks post-training.

Sidra Medicine has met the accreditation standards and requirements and is accredited as a provider of Continuing Professional Development (CPD) for healthcare practitioners by the Department of Healthcare Professions (DHP), State of Qatar.

In support of improving patient care, Sidra Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC) to provide continuing education for the healthcare team.

Mitigation of Relevant Financial Relationships

Sidra Medicine adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.