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Closing the Genomic Gap in Rare Disease

Ahead of Rare Disease Day, leaders from iHope and PacBio explore how technology, collaboration, and policy reform can bring accurate genomic diagnosis

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  • February 27, 2026

  • 8 min

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Ryan Taft and Stacy Musone discuss iHope's mission to ensure equitable access to genetic testing for rare diseases, emphasizing that location should not determine a child's access to vital genomic services. iHope, the largest genomic testing network, supports over 1,000 patients annually across 25 sites globally, addressing the urgent need for advanced genetic solutions in a landscape where access remains inequitable. Long-read sequencing technology offers promise for increased diagnostic accuracy and a clearer path toward personalized therapies, but significant systemic barriers continue to challenge patient access and diagnostic resolution.

Original Source(s)

Closing the Genomic Gap in Rare Disease

Ahead of Rare Disease Day, leaders from iHope and PacBio explore how technology, collaboration, and policy reform can bring accurate genomic diagnosis

  • February 27, 2026

  • 8 min

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