The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Key Points

• This initiative aims to facilitate the adoption of whole-genome sequencing for diagnosing rare diseases by establishing clinical guidelines.
• Formation of the Medical Genome Initiative consortium
• Development of practical guidance for clinical WGS use
• Focus on creating standards for clinical practice
• Identification of clear diagnostic benefits for patients with rare diseases through WGS
• Recognition of barriers to WGS adoption, including lack of standards
• Proposed practical guidance to enhance clinical implementation of WGS