Publications by authors named "Stacy L Aoudia"
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.
Nine-gene pharmacogenomics profile service: The Mayo Clinic experience.
Pharmacogenomics J
February 2022
Purpose: The Pharmacogenomics (PGx) Profile Service was a proof-of-concept project to implement PGx in patient care at Mayo Clinic.
Methods: Eighty-two healthy individuals aged 18 and older underwent genotyping of CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, SLCO1B1, HLA-B*58:01, and VKORC1. A PGx pharmacist was involved in ordering, meeting with patients, interpreting, reviewing, and documenting results.
Article Synopsis
- The study aimed to evaluate the presence of actionable genetic results in a healthy adult population using predictive genomic testing at the Mayo Clinic Executive Health Program.
- A total of 1,281 patients were seen from 2014 to 2019, with 301 opting for testing; the uptake of testing significantly increased over the years.
- The results showed that 11.6% of tested individuals had clinically actionable genetic findings, with many having no prior family history of related disorders, highlighting the potential benefits of predictive genomics in healthcare.
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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