Pharmacogenetics is frequently cited as an area for initial focus of the clinical implementation of genomics. Through the PG4KDS protocol, St. Jude Children's Research Hospital pre-emptively genotypes patients for 230 genes using the Affymetrix Drug Metabolizing Enzymes and Transporters (DMET) Plus array supplemented with a CYP2D6 copy number assay. The PG4KDS protocol provides a rational, stepwise process for implementing gene/drug pairs, organizing data, and obtaining consent from patients and families. Through August 2013, 1,559 patients have been enrolled, and four gene tests have been released into the electronic health record (EHR) for clinical implementation: TPMT, CYP2D6, SLCO1B1, and CYP2C19. These genes are coupled to 12 high-risk drugs. Of the 1,016 patients with genotype test results available, 78% of them had at least one high-risk (i.e., actionable) genotype result placed in their EHR. Each diplotype result released to the EHR is coupled with an interpretive consult that is created in a concise, standardized format. To support-gene based prescribing at the point of care, 55 interruptive clinical decision support (CDS) alerts were developed. Patients are informed of their genotyping result and its relevance to their medication use through a letter. Key elements necessary for our successful implementation have included strong institutional support, a knowledgeable clinical laboratory, a process to manage any incidental findings, a strategy to educate clinicians and patients, a process to return results, and extensive use of informatics, especially CDS. Our approach to pre-emptive clinical pharmacogenetics has proven feasible, clinically useful, and scalable.
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http://dx.doi.org/10.1002/ajmg.c.31391 | DOI Listing |
J Clin Oncol
January 2025
Department of Epidemiology and Health Economics, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Purpose: To evaluate the cost utility of a 9-month supervised exercise program for patients with metastatic breast cancer (mBC), compared with control (usual care, supplemented with general activity advice and an activity tracker). Evidence on the cost-effectiveness of exercise for patients with mBC is essential for implementation in clinical practice and is currently lacking.
Methods: A cost-utility analysis was performed alongside the multinational PREFERABLE-EFFECT randomized controlled trial, conducted in 8 centers across Europe and Australia.
PLOS Glob Public Health
January 2025
Department of Global Health, University of Washington, Seattle, Washington, United States of America.
Integrating and sustaining evidence-based interventions (EBIs) in routine care is crucial to improving HIV treatment outcomes among youth living with HIV (YLH). However, EBIs are often not sustained post clinical trial. An Adolescent Transition Package (ATP) delivered by health care workers (HCWs) and tested in Kenya in 2021 significantly improved YLH readiness to transition to independent care.
View Article and Find Full Text PDFPLoS One
January 2025
The Research and Implementation Unit PROgrez, Department of Physiotherapy and Occupational Therapy Næstved-Slagelse-Ringsted Hospitals, Slagelse, Denmark.
Introduction: Intermittent claudication is a peripheral artery disease caused by arteriosclerosis. People with intermittent claudication experience leg cramping during walking, with relief of symptoms during rest. Evidence shows that by participating in supervised exercise therapy and smoking cessation programs, people with intermittent claudication can reduce those symptoms and improve health-related quality of life and maximal walking distance while minimizing the need for an operation.
View Article and Find Full Text PDFActa Orthop
January 2025
Department of Surgery, Lovisenberg Diaconal Hospital, Oslo; Department of Public Health Science, Institute of Health and Society, Faculty of Medicine, University of Oslo, Oslo, Norway.
Background And Purpose: Measuring patient satisfaction after total hip (THA) and total knee arthroplasty (TKA) is important. We aimed to cross-culturally adapt and examine the psychometric properties of the self-reported Goodman Satisfaction Score (GSS) in a sample of Norwegian patients following primary THA and TKA.
Methods: The GSS was translated and adapted into Norwegian (GSS-NO) following standard guidelines.
United European Gastroenterol J
January 2025
Department of Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands.
Acute pancreatitis is a common gastrointestinal disease leading to hospitalisation. Recent advancements in its management have primarily focussed on the development of early phase medical interventions targeting inflammatory pathways, optimisation of supportive treatment (including fluid resuscitation, pain management and nutritional management), appropriate use of antibiotics, implementation of minimally invasive interventions for infected necrosis, and the necessity of follow-up for long-term complications. These advancements have significantly improved personalised management and overall outcomes of acute pancreatitis.
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