FSU IPRD DIAGNOSTIC LAB

The FSU IPRD Diagnostic Laboratory is a CLIA-certified whole genome sequencing facility. Clinical Whole Genome Sequencing (WGS) is a comprehensive diagnostic tool for sequencing an individual’s entire genome. WGS is primarily used to diagnose rare diseases and help clinicians end the patient’s diagnostic odyssey.

WGS is used for diagnosing children with developmental delay, intellectual disability or multiple congenital anomalies (roughly 3% of population). Initial workup of these cases often includes neuroimaging, karyotype, CGH array and phenotype-driven metabolic, molecular and serial gene tests. WGS is emerging as the most comprehensive assessment for genetic diagnosis. Clinical use of WGS reduces costs of diagnosis, increases precision of diagnosis, and enables early interventional therapies. In addition, WGS is used in adults to analyze intellectual disabilities, cardiovascular diseases, early-onset dementia, and cancer driver identification.

The anticipated benefits of Whole Genome Sequencing include providing actionable results that alter therapy and direct medical management, including:

Diagnosis

Provides an earlier diagnosis, enabling earlier treatments with better outcomes

Improved Care

Ends diagnostic odysseys, avoiding additional testing that is often painful and/or costly, bringing closure, and saving further costs to families, insurers and hospitals

Prognosis

Provides a more precise prognosis

Treatment

Guides medical monitoring and/or medication changes

Research

Supports clinical trial eligibility

Prevention

Ends diagnostic odysseys, avoiding additional testing that can be invasive and/or costly, bringing closure, and saving further costs to families, insurers and hospitals

In the future, it is likely that Whole Genome Sequencing will be used increasingly as a first-line molecular diagnostic test to help tailor timely medical management, eliminating the need for unnecessary clinical evaluations and therapies.