5 Key Takeaways

• 1

  iHope provides no-cost genomic testing to children in need, supporting over 1,000 patients annually across 25 clinical sites in 14 countries.

• 2

  Rare diseases affect over 300 million people globally, yet access to genomic technologies is uneven, with many lacking testing options.

• 3

  Long-read sequencing improves diagnostic yield by accurately detecting complex genomic variations that short-read technologies often miss.

• 4

  Systemic barriers, such as limited access and long wait times, significantly hinder the rare disease diagnostic process worldwide.

• 5

  Precision therapies require comprehensive genomic information to ensure effective treatment, highlighting the importance of accurate variant characterization.