All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
English - April 19, 2019 12:07 - 29 minutes - 13.4 MB - ★★★★ - 2 ratingsHealth & Fitness disorder disease genetic genomics rare Homepage Download Apple Podcasts Google Podcasts Overcast Castro Pocket Casts RSS feed
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.