Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results

Pharmacogenetic (PGx) testing is one of the primary drivers of personalized medicine. The use of PGx testing may provide a lifetime of benefits through tailoring drug dosing and selection of multiple medications to improve therapeutic outcomes and reduce adverse responses. We aimed to assess public interest and concerns regarding sharing and storage of PGx test results that would facilitate the re-use of PGx data across a lifetime of care

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding

10.1186/s13073-014-0058-6Genome Medicine675

Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions

Pharmacogenetic (PGx) testing can inform drug dosing and selection by aiding in estimating a patient’s genetic risk of adverse response and/or failure to respond. Some PGx tests may generate ancillary clinical information unrelated to the drug treatment question for which testing is done – an informational “side effect.” We aimed to assess public interest and concerns about PGx tests and ancillary information

Development of Competency-based Online Genomic Medicine Training (COGENT)

The fields of genetics and genomics have greatly expanded across medicine through the development of new technologies that have revealed genetic contributions to a wide array of traits and diseases. Thus, the development of widely available educational resources for all healthcare providers is essential to ensure the timely and appropriate utilization of genetics and genomics patient care. In 2020, the National Human Genome Research Institute released a call for new proposals to develop accessible, sustainable online education for health providers. This paper describes the efforts of the six teams awarded to reach the goal of providing genetic and genomic training modules that are broadly available for busy clinicians

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices

Introduction: The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogenomic testing.Methods: An online survey was developed and sent to health providers at institutions that offer clinical germline pharmacogenomic testing to assess current IC practices.Results: Forty-six completed surveys representing 43 clinical institutions offering pharmacogenomic testing were received. Thirty-two (74%) respondents obtain IC from patients with variability in elements incorporated. Results revealed that twenty-nine (67%) institutions discuss the benefits, description, and purpose of pharmacogenomic testing with patients. Less commonly discussed elements included methodology and accuracy of testing, and laboratory storage of samples.Discussion: IC practices varied widely among survey respondents. Most respondents desire the establishment of consensus IC recommendations from a trusted pharmacogenomics organization to help address these disparities

A Brief Comparative History Analysis

With the advent of gene-editing tools, changes to sequences encoding genes or regulatory elements can be made with relative ease compared to prior technologies. The development and anticipated commercialization of new applications using gene-editing technologies may span the gamut from therapeutic interventions to agricultural applications to cosmetic or enhancement procedures. Although objections have been raised about the purpose and on whom gene editing should be performed, limiting its uses in the absence of demonstrated harm may be difficult and unwise at this time, even at this early stage of development. The fledgling field may benefit from a review of the history of plastic and cosmetic surgery that underwent a similarly rocky start and continues to evolve to this day. From this brief comparative historical analysis, we may gain some insight about the path forward regarding the use of gene-editing tools for cosmetic purposes