All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope

Genomic sequencing is something many rare disease patients may need, but may not be able to access. The Rare Genomics institute runs a program called iHope to help children and their families afford genomic sequencing with the hope of finding a diagnosis, and a treatment. In this episode we chat with Romina Ortiz, a scientist and a co-founder of Rare Genomics to hear about the the potential costs of sequencing, the difference between exome sequencing and whole genome sequencing, and how, through iHope, Rare Genomics has provided $2.7 million worth of whole genome sequencing to patients in need. She also explains why genomic testing doesn't always lead to instant diagnosis (only 20-30%), and shares some iHope success stories.

You can listen to All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope online on Radio and Podcast. Open the player on this page to stream the available audio.

All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope is an episode from Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation by Rare Genomics Institute.

This episode is 29:00 long.

This episode was published on Apr 19, 2019.

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