Publications by authors named "Jessa Bidwell"
Objective: To execute a large-scale, decentralized, clinical-grade whole exome sequencing study, coined Tapestry, for clinical practice, research discovery, and genomic education.
Patients And Methods: Between July 1, 2020, and May 31, 2024, we invited 1,287,608 adult Mayo Clinic patients to participate in Tapestry. Of those contacted, 114,673 patients were consented and 98,222 (65.
Article Synopsis
- - The study aimed to determine if exome sequencing could help efficiently identify individuals with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS), which are genetic conditions linked to increased cancer risk.
- - Over 44,000 participants were recruited across diverse regions in the U.S., resulting in the identification of 550 carriers of HBOC and LS, with 52.1% being newly diagnosed and 39.2% not meeting current genetic evaluation criteria.
- - The findings suggest a need for broader use of germline genetic screening to improve the screening and detection of those predisposed to these cancer syndromes, particularly among underrepresented populations.
: Spinal muscular atrophy (SMA) has a remarkable impact on function and participation. Subsequently, the caregivers of individuals with SMA are impacted as well. Providers and the SMA community should be aware of the presence of and likely expectations for the existence of caregiver burden.
View Article and Find Full Text PDFBackground: Ambulatory individuals with spinal muscular atrophy experience weakness and impairments of speed and endurance. This leads to decreased motor skill performance required for daily living including transitioning from floor to stand, climbing stairs, and traversing short and community distances. Motor function improvements have been reported in individuals receiving nusinersen, but changes in timed functional tests (TFTs) which assess shorter distance walking and transitions have not been well documented.
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