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Last Posted: Nov 29, 2023
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Patient-Level Exposure to Actionable Pharmacogenomic Medications in a Nationally Representative Insurance Claims Database
ML BIanchini et al, JPM, November 3, 2023

From the abstract: " The prevalence of exposure to pharmacogenomic medications is well established but little is known about how long patients are exposed to these medications. Aim: Our objective was to describe the amount of exposure to actionable pharmacogenomic medications using patient-level measures among a large nationally representative population using an insurance claims database. Methods: Our retrospective cohort study included adults (18+ years) from the IQVIA PharMetrics® Plus for Academics claims database with incident fills of 72 Clinical Pharmacogenetics Implementation Consortium level A, A/B, or B medications from January 2012 through September 2018. "

Strengthening digital health equity by balancing techno-optimism and techno-skepticism through implementation science.
Jorge A Rodriguez et al. NPJ Digit Med 2023 11 (1) 203

From the abstract: " The promise that technology can revolutionize care by better connecting us to our patients, overcoming analog barriers to care, and addressing health disparities is grounded in “techno-optimism.” We advocate for organizational leaders to inform their digital health equity strategies with a balanced measure of “techno-skepticism”, grounded in implementation science, that can ensure alignment between health technology and health equity. "

Digital health tools in genomics: Advancing diversity, equity and inclusion
D Assamad et al, Public Health Genomics, November 2023

From the paper: "Patient-facing digital genomic tools are increasingly being used to facilitate the delivery of genetics services including patient intake, phenotyping, education, counseling, and result reporting. A recent systematic review found that digital tools improved the workflow of genetics providers and service efficiencies. Existing data on patient experiences also demonstrate high acceptance of pre-test digital tools across various contexts, with most patients endorsing and expressing high levels of satisfaction with these tools. However, a closer examination of digital genomic tools reveals a concerning lack of consideration for diversity, equity, and inclusion (DEI) principles in their design, evaluation, and implementation within health systems [ "

Cystic Fibrosis.
Hartmut Grasemann et al. N Engl J Med 2023 11 (18) 1693-1707

From the paper: "Care for patients with cystic fibrosis has undergone transformative changes over the past decade and serves as an example of how an understanding of the functional consequences of a genetic disease can lead to improved outcomes in affected persons. Substantial progress had been made through the implementation of therapies addressing key downstream manifestations of the disease such as mucus accumulation in the airways and persistent airway infections. In addition, the introduction of small-molecule drugs that address the underlying molecular defects — cystic fibrosis transmembrane conductance regulator (CFTR) modulators — has resulted in unprecedented improvements in the health of many persons with cystic fibrosis."

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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