The Inclusion of Health Data Standards in the Implementation of Pharmacogenomics Systems: A Scoping Review

Background: Despite potential benefits, the practice of incorporating pharmacogenomics (PGx) results in clinical decisions has yet to diffusewidely. In this study,we conducted a review of recent discussions on data standards and interoperability with a focus on sharing PGx test results among health systems. Materials & methods:We conducted a literature search for PGx clinical decision support systems between 1 January 2012 and 31 January 2020. Thirty-two out of 727 articles were included for the final review. Results: Nine of the 32 articles mentioned data standards and only four of the 32 articles provided solutions for the lack of interoperability. Discussions: Although PGx interoperability is essential for widespread implementation, a lack of focus on standardized data creates a formidable challenge for health information exchange. Conclusion: Standardization of PGx data is essential to improve health information exchange and the sharing of PGx results between disparate systems. However, PGx data standards and interoperability are often not addressed in the system-level implementation

A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine

<p>Abstract</p> <p>Background</p> <p>In recent years, the completion of the Human Genome Project and other rapid advances in genomics have led to increasing anticipation of an era of genomic and personalized medicine, in which an individual's health is optimized through the use of all available patient data, including data on the individual's genome and its downstream products. Genomic and personalized medicine could transform healthcare systems and catalyze significant reductions in morbidity, mortality, and overall healthcare costs.</p> <p>Discussion</p> <p>Critical to the achievement of more efficient and effective healthcare enabled by genomics is the establishment of a robust, nationwide clinical decision support infrastructure that assists clinicians in their use of genomic assays to guide disease prevention, diagnosis, and therapy. Requisite components of this infrastructure include the standardized representation of genomic and non-genomic patient data across health information systems; centrally managed repositories of computer-processable medical knowledge; and standardized approaches for applying these knowledge resources against patient data to generate and deliver patient-specific care recommendations. Here, we provide recommendations for establishing a national decision support infrastructure for genomic and personalized medicine that fulfills these needs, leverages existing resources, and is aligned with the <it>Roadmap for National Action on Clinical Decision Support </it>commissioned by the U.S. Office of the National Coordinator for Health Information Technology. Critical to the establishment of this infrastructure will be strong leadership and substantial funding from the federal government.</p> <p>Summary</p> <p>A national clinical decision support infrastructure will be required for reaping the full benefits of genomic and personalized medicine. Essential components of this infrastructure include standards for data representation; centrally managed knowledge repositories; and standardized approaches for leveraging these knowledge repositories to generate patient-specific care recommendations at the point of care.</p

Doctor of Philosophy

dissertationThe widespread use of genomic information to improve clinical care has long been a goal of clinicians, researchers, and policy-makers. With the completion of the Human Genome Project over a decade ago, the feasibility of attaining this goal on a widespread basis is becoming a greater reality. In fact, new genome sequencing technologies are bringing the cost of obtaining a patient's genomic information within reach of the general population. While this is an exciting prospect to health care, many barriers still remain to effectively use genomic information in a clinically meaningful way. These barriers, if not overcome, will limit the ability of genomic information to provide a significant impact on health care. Nevertheless, clinical decision support (CDS), which entails the provision of patient-specific knowledge to clinicians at appropriate times to enhance health care, offers a feasible solution. As such, this body of work represents an effort to develop a functional CDS solution capable of leveraging whole genome sequence information on a widespread basis. Many considerations were made in the design of the CDS solution in order to overcome the complexities of genomic information while aligning with common health information technology approaches and standards. This work represents an important advancement in the capabilities of integrating actionable genomic information within the clinical workflow using health informatics approaches

Pharmacogenomic testing in paediatrics: Clinical implementation strategies

Pharmacogenomics (PGx) relates to the study of genetic factors determining variability in drug response. Implementing PGx testing in paediatric patients can enhance drug safety, helping to improve drug efficacy or reduce the risk of toxicity. Despite its clinical relevance, the implementation of PGx testing in paediatric practice to date has been variable and limited. As with most paediatric pharmacological studies, there are well-recognised barriers to obtaining high-quality PGx evidence, particularly when patient numbers may be small, and off-label or unlicensed prescribing remains widespread. Furthermore, trials enrolling small numbers of children can rarely, in isolation, provide sufficient PGx evidence to change clinical practice, so extrapolation from larger PGx studies in adult patients, where scientifically sound, is essential. This review paper discusses the relevance of PGx to paediatrics and considers implementation strategies from a child health perspective. Examples are provided from Canada, the Netherlands and the UK, with consideration of the different healthcare systems and their distinct approaches to implementation, followed by future recommendations based on these cumulative experiences. Improving the evidence base demonstrating the clinical utility and cost-effectiveness of paediatric PGx testing will be critical to drive implementation forwards. International, interdisciplinary collaborations will enhance paediatric data collation, interpretation and evidence curation, while also supporting dedicated paediatric PGx educational initiatives. PGx consortia and paediatric clinical research networks will continue to play a central role in the streamlined development of effective PGx implementation strategies to help optimise paediatric pharmacotherapy

A Sustainable Future In The Implementation Of Clinical Pharmacogenomics

Purpose: The sustainability of clinical pharmacogenomics requires further study of clinical education on the topic, its effects on clinical workflow, and the responsibilities of different providers for its delivery. Tools from the discipline of implementation science were utilized herein to help achieve the purposes of the three studies. The broad purpose of this dissertation is to advance the work of clinical pharmacogenomic implementation through a more rigorous convergence with implementation science. Methods: Three studies constitute the whole of this dissertation. The first is a scoping review that provides a broad characterization of the methods utilized in available peer-revieliterature focusing on provider use of and experience with using pharmacogenomics in practice or the study setting. The second study used semi-structured in-depth interviews to elicit strategies and perspectives from leadership in current implementation programs using the Consolidated Framework for Implementation Science (CFIR) Process Domain. The third used a cross-sectional quantitative survey with experimental vignettes to explore the potential for pharmacist-physician collaboration using newly developed implementation science outcomes. Results: The scoping review included 25 studies, with many focused on the interactions of providers with clinical decision support systems and adherence to therapeutic recommendations represented. Results from the interviews were extensive but several highlights included a focus on understanding pharmacogenomic use prior to implementation, high-touch informal communication with providers, and the power of the patient case. The survey analysis revealed that the primary care physicians believe that it is more appropriate to deliver clinical pharmacogenomics when a pharmacist is physically located in a clinic and is responsible for managing and modifying a drug therapy based on these results. Conclusion: These three studies further the convergence of implementation science and genomic medicine, with particular focus on pharmacogenomics and the foundational concept of implementation science, sustainability. The scoping review should provide future researchers with a landscape of available and previously used methodologies for interventional pharmacogenomic studies. The interview results will help new implementers of pharmacogenomics steer around avoidable hurdles or make them easier to address. The survey results showcase the potential for pharmacist-physician collaboration in clinical pharmacogenomics

Precision health: A nursing perspective

Precision health refers to personalized healthcare based on a person's unique genetic, genomic, or omic composition within the context of lifestyle, social, economic, cultural and environmental influences to help individuals achieve well-being and optimal health. Precision health utilizes big data sets that combine omics (i.e. genomic sequence, protein, metabolite, and microbiome information) with clinical information and health outcomes to optimize disease diagnosis, treatment and prevention specific to each patient. Successful implementation of precision health requires interprofessional collaboration, community outreach efforts, and coordination of care, a mission that nurses are well-positioned to lead. Despite the surge of interest and attention to precision health, most nurses are not well-versed in precision health or its implications for the nursing profession. Based on a critical analysis of literature and expert opinions, this paper provides an overview of precision health and the importance of engaging the nursing profession for its implementation. Other topics reviewed in this paper include big data and omics, information science, integration of family health history in precision health, and nursing omics research in symptom science. The paper concludes with recommendations for nurse leaders in research, education, clinical practice, nursing administration and policy settings for which to develop strategic plans to implement precision health

Black-Box Medicine

Personalized medicine, where Big Data meets Big Health, has been hailed as the next leap forward in health care, but that leap raises tremendous challenges for our current policy landscape. This Article is the first to label the phenomenon of black-box medicine, a version of personalized medicine in which researchers use sophisticated algorithms to examine huge troves of health data, finding complex, implicit relationships and making individualized assessments for patients. This new form of medicine offers potentially immense benefits but faces major hurdles both in development and in application. Development requires high investment; firms must develop new datasets, models, and validations, which are all nonrivalrous information goods that require incentives for welfare-optimizing levels of development. However, current innovation policy lacks the necessary incentives and instead pushes firms in socially suboptimal directions. Black-box medicine also raises significant challenges with respect to privacy, regulation, and commercialization. This Article describes black-box medicine, explains its differences-in-kind from current forms of medicine, and briefly explores the landscape of policy challenges ahead

Clinical Bioinformatics: challenges and opportunities

Background: Network Tools and Applications in Biology (NETTAB) Workshops are a series of meetings focused on the most promising and innovative ICT tools and to their usefulness in Bioinformatics. The NETTAB 2011 workshop, held in Pavia, Italy, in October 2011 was aimed at presenting some of the most relevant methods, tools and infrastructures that are nowadays available for Clinical Bioinformatics (CBI), the research field that deals with clinical applications of bioinformatics. Methods: In this editorial, the viewpoints and opinions of three world CBI leaders, who have been invited to participate in a panel discussion of the NETTAB workshop on the next challenges and future opportunities of this field, are reported. These include the development of data warehouses and ICT infrastructures for data sharing, the definition of standards for sharing phenotypic data and the implementation of novel tools to implement efficient search computing solutions. Results: Some of the most important design features of a CBI-ICT infrastructure are presented, including data warehousing, modularity and flexibility, open-source development, semantic interoperability, integrated search and retrieval of –omics information. Conclusions: Clinical Bioinformatics goals are ambitious. Many factors, including the availability of high-throughput “-omics” technologies and equipment, the widespread availability of clinical data warehouses and the noteworthy increase in data storage and computational power of the most recent ICT systems, justify research and efforts in this domain, which promises to be a crucial leveraging factor for biomedical research