Publications by authors named "Carri A Prochnow"
Article Synopsis
- * A new Genetic Testing and Counseling (GTAC) unit was launched to streamline genetic testing and improve patient access, employing a team of specialized professionals to provide quick genetic counseling and support.
- * Since its inception, PRaUD has evaluated over 1,150 patients, achieving a solved or likely solved rate of 17.5%, and significant changes in medical management for nearly 43% of those whose genetic tests yielded results.
Objective: To increase the likelihood of finding a causative genetic variant in patients with a focal segmental glomerulosclerosis (FSGS) lesion, clinical and histologic characteristics were analyzed.
Patients And Methods: Individuals 18 years and older with an FSGS lesion on kidney biopsy evaluated at Mayo Clinic from November 1, 1999, through October 31, 2019, were divided into 4 groups based on clinical and histologic characteristics: primary FSGS, secondary FSGS with known cause, secondary FSGS without known cause, and undetermined FSGS. A targeted gene panel and a customized gene panel retrieved from exome sequencing were performed.
Purpose: Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a conclusive diagnosis. To provide comprehensive genomic testing to patients with undiagnosed disease, we established an Individualized Medicine Clinic, which offered clinical exome testing and included a Translational Omics Program (TOP) that provided variant curation, research activities, or research exome sequencing.
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