Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Purpose: As part of the 100,000 Genomes Project, we set out to assess the potential viability and clinical impact of reporting genetic variants associated with drug-induced toxicity for patients with cancer recruited for whole-genome sequencing (WGS) as part of a genomic medicine service.

Methods: Germline WGS from 76,805 participants was analyzed for pharmacogenetic (PGx) variants in four genes (, , , ) associated with toxicity induced by five drugs used in cancer treatment (capecitabine, fluorouracil, mercaptopurine, thioguanine, irinotecan). Linking genomic data with prescribing and hospital incidence records, a phenome-wide association study (PheWAS) was performed to identify whether phenotypes indicative of adverse drug reactions (ADRs) were enriched in drug-exposed individuals with the relevant PGx variants.

Communication in the ICU: An Unintended Nocebo Effect?

To identify medical phrases utilized by the critical care team that may have an unintended impact on the critically ill patient, we administered an anonymous survey to multi-professional critical care team members. We elicited examples of imprecise language that may have a negative emotional impact on the critically ill. Of the 1600 providers surveyed, 265 offered 1379 examples (912 unique) which were clustered into 5 categories.

Panniculus Retractor Use for Visualization of Fetal Anatomy: A Randomized Controlled Trial.

Objective: To evaluate whether use of a panniculus retractor device for pregnant patients with body mass index (BMI) 40 or higher and a panniculus improves the completion rate of the fetal anatomic examination.

Methods: This was a randomized trial in which eligible patients with BMI 40 or higher and a panniculus were randomized to undergo their detailed fetal anatomic examination with a panniculus retractor device in place compared with usual care. The primary outcome was the completion rate of 16 prespecified views from the anatomic examination.

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

The Cancer Programme of the 100,000 Genomes Project was an initiative to provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities for precision cancer care within the UK National Healthcare System (NHS). Genomics England, alongside NHS England, analyzed WGS data from 13,880 solid tumors spanning 33 cancer types, integrating genomic data with real-world treatment and outcome data, within a secure Research Environment. Incidence of somatic mutations in genes recommended for standard-of-care testing varied across cancer types.

Evaluation of the Fast Prior Authorization Technology Highway.

Background: Prior authorization (PA) is a utilization management tool used by health plans and pharmacy benefit managers where the payer requires additional documentation from health care providers before authorization of payment for a medication or procedure. PA processes are hypothesized to be more efficient if electronic transmission is utilized instead of manual submission.

Objective: To evaluate the impact of electronic PA (ePA) on approval rate and time to decision and to assess health care provider perception of using ePA.