Services
Focal Areas for Rare Disease, Newborn Screening, and Public Health Genetics:
-
Development of awareness-building, educational, and training content for a wide range of stakeholders using a variety of modalities. Considerations for dissemination models and evaluation strategies to improve and measure effectiveness.
-
Development of quality assurance and improvement plans for existing processes or services spanning pre-analytical, analytical, and post-analytical workflows.
-
Assistance and collaboration on rare disease policy and advocacy issues at local, national, and international levels.
-
Technical and expert insights regarding rare diseases ranging from drug development, clinical trials, patient registries, policy, advocacy, and newborn screening.
-
Planning and execution of new technologies for data interoperability, bioinformatics, or analytics. Improved use of evidence, connections, and analytics for data-informed decisions and monitoring of health disparities and outcomes.
-
Therapy development for rare and orphan diseases, patient engagement, content creation
-
Assistance in initiating, planning, and implementing new services, projects, or initiatives with a focus on meeting stakeholder needs effectively and efficiently. Assurance that multiple perspectives – scientific, ethical, clinical, advocacy, and policy – are considered.