Pharmacogenomic (PGx) testing has emerged as an effective strategy for informing drug selection and dosing. This has led to an increase in the use of PGx testing in the clinic and has catalyzed the emergence of a burgeoning commercial PGx testing industry. However, not all PGx tests are equivalent in their approach to translating testing results into prescribing recommendations, due to an absence of regulatory standards. As such, those generating and using PGx data require tools for ensuring the prescribing recommendations they are provided align with current peer-reviewed PGx-based prescribing guidelines developed by expert groups or approved product labels. Herein, we present Sequence2Script (sequence2script.com), a simple, free, and transparent web-based tool to assist in the efficient translation of PGx testing results into evidence-based prescribing recommendations. The tool was designed with a wide-range of user groups (e.g., healthcare providers, laboratory staff, researchers) in mind. The tool supports 97 gene-drug pairs with evidence-based prescribing guidelines, allows users to adjust recommendations for concomitant inhibitors and inducers, and generates a clinical report summarizing the patient's genotype, inferred phenotype, phenoconverted phenotype (if applicable), and corresponding prescribing recommendations. In this paper, we describe each of the tool's features, provide use case examples, and discuss limitations of and future development plans for the tool. Although we recognize that Sequecnce2Script may not meet the needs of every user, the hope is that this novel tool will facilitate more standardized use of PGx testing results and reduce barriers to implementing these results into practice.
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http://dx.doi.org/10.3389/fphar.2021.636650 | DOI Listing |
Cureus
December 2024
Department of Family and Community Medicine, Riyadh Second Health Cluster, Riyadh, SAU.
Introduction Asthma prevalence among Saudi adults aged 20-44 years in Riyadh is high, with 11.3% reporting physician-diagnosed asthma, exceeding rates in most countries using similar methods. In Aseer province, one out of five adults is estimated to have asthma.
View Article and Find Full Text PDFTurk J Med Sci
December 2024
Deputy Health Minister, Ministry of Health, Ankara, Turkiye.
Background/aim: Effective management of heart failure involves evidence-based use of multiple medications and their combinations. Furthermore, dosage escalation of the recommended medications is advised. In cases of advanced heart failure, long-term mechanical assistance devices or heart transplantation surgery may be necessary.
View Article and Find Full Text PDFTransgend Health
December 2024
Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, Colorado, USA.
Injectable estrogens are options for gender-affirming hormone therapy per guidelines, which suggest intramuscular dosages of 5-30 mg every 2 weeks or 2-10 mg weekly with estradiol cypionate or valerate interchangeably. Data among transgender and gender-diverse patients are limited due to local unavailability and concerns around laboratory assay variability and estradiol (E2) level fluctuation. We note a concerning trend where patients are prescribed high-dose injections based on the guidelines leading to serum E2 levels well above the range recommended in the same guidelines.
View Article and Find Full Text PDFCureus
November 2024
Health Economics, Semmelweis University, Center for Health Technology Assessment, Budapest, HUN.
Introduction Biologics are substantial in the treatment of different diseases; however, they can burden the healthcare systems due to their high cost. Biosimilars can help healthcare systems keep their financial sustainability and patients access to biological therapies. The research objective is to formulate a framework for integrating biosimilars in the private healthcare sector of the United Arab Emirates (UAE).
View Article and Find Full Text PDFPatient Prefer Adherence
December 2024
Department of Pharmacy, Faculty of Pharmacy, Nursing, and Health Professions, Birzeit University, Birzeit, Palestine.
Background: The prevalence of type 2 diabetes is a significant global public health concern. Adherence to established guidelines is essential for effective management of this metabolic disease.
Objective: This study aimed to evaluate the current practices of physicians in Palestine regarding their adherence to ADA guidelines for type 2 diabetes management.
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