Gene Variant Databases

Advances in Genomic Testing for Rare Disease Diagnostics

March 26, 2024
Over the past decade, whole-exome and whole-genome sequencing have transformed the diagnosis of patients with suspected rare genetic diseases. However, despite recent advancements, a large number of patients with rare genetic diseases remains undiagnosed for years because they have limited access to comprehensive genomic testing.

In this virtual roundtable of leading rare disease experts, panelists will discuss:

The state of clinical genomic testing at their institutions.
How recent advances in sequencing technology and data analysis, including artificial intelligence (AI), are increasing diagnostic rate.
How barriers to patient access to testing can be removed to improve the care of all people living with rare genetic diseases.

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