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Improving Staff Responsiveness and Hourly Rounding effectiveness to Enhance Patient Satisfaction on a Surgical Orthopedic/Neuro Unit
https://scholarlycommons.baptisthealth.net/se-2025-beth-bpf/1015/thumbnail.jp
Improving Pressure Injury Prevention Through A Multimodal Approach
https://scholarlycommons.baptisthealth.net/se-2025-beth-bpf/1011/thumbnail.jp
Improving Patient Experience in the Observation Unit: A Multimodal Performance Improvement Initiative
https://scholarlycommons.baptisthealth.net/se-2025-beth-bpf/1006/thumbnail.jp
Does A Change in Current Response Time Practices Improve Patient Persopective
https://scholarlycommons.baptisthealth.net/brrh-nursing-excellence-showcase-2025/1003/thumbnail.jp
US Geriatric Assessment Practices for Older Adults Undergoing Hematopoietic Cell Transplantation or Chimeric Antigen Receptor T Cell Therapy: An American Society for Transplantation and Cellular Therapy Physician Survey from the Aging Special Interest Group and Committee on Practice Guidelines
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease
Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation of variants across the genome enables the identification of multiple molecular diagnoses (MMDs) in a single individual. In this retrospective study, we describe individuals in whom MMDs were associated with the proband\u27s indication for testing (IFT), secondary findings, or incidental findings. An MMD is considered where at least one of the findings is associated with the primary IFT and all variants are classified as either likely pathogenic or pathogenic. Clinical genome sequencing was performed for all individuals as part of the iHope program at the Illumina Laboratory Services between September 2017 and December 2023. The iHope cohort included 1,846 affected individuals, with 872 (47.2%) found to have at least one likely pathogenic or pathogenic variant associated with the primary IFT. Of these, 81 (9.3%) individuals had multiple clinically significant molecular findings, including 76 individuals with reported variants associated with 2 different conditions, and 5 individuals with more than 2 molecular findings. A total of 32 individuals (3.7%) had at least 2 molecular diagnoses related to the primary IFT, while in 49 (5.6%) individuals, the variant(s) reported for the second condition constituted a secondary or incidental finding. Our study highlights that among individuals with a likely pathogenic or pathogenic finding identified through genome sequencing, 9% have MMDs, which may have been missed with different testing methods. Of note, approximately 60% of the 81 individuals with an MMD had a potentially actionable secondary or incidental finding