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Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network.

ABSTRACT: The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data; however, it is not yet clear which strategies are best suited for this purpose. In this study, we used implementation science to identify common strategies for applying provider-based CDS interventions across six genomic medicine clinical research projects funded by an NIH consortium. Each project's strategies were elicited via a structured survey derived from a typology of implementation strategies, the Expert Recommendations for Implementing Change (ERIC), and follow-up interviews guided by both implementation strategy reporting criteria and a planning framework, RE-AIM, to obtain more detail about implementation strategies and desired outcomes. We found that, on average, the three pharmacogenomics implementation projects used more strategies than the disease-focused projects. Overall, projects had four implementation strategies in common; however, operationalization of each differed in accordance with each study's implementation outcomes. These four common strategies may be important for precision medicine program implementation, and pharmacogenomics may require more integration into clinical care. Understanding how and why these strategies were successfully employed could be useful for others implementing genomic or precision medicine programs in different contexts.

SUBMITTER: Sperber NR

PROVIDER: S-EPMC8306482 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group.

Project description:PurposeImplementation research provides a structure for evaluating the clinical integration of genomic medicine interventions. This paper describes the Implementing Genomics in Practice (IGNITE) Network's efforts to promote (i) a broader understanding of genomic medicine implementation research and (ii) the sharing of knowledge generated in the network.MethodsTo facilitate this goal, the IGNITE Network Common Measures Working Group (CMG) members adopted the Consolidated Framework for Implementation Research (CFIR) to guide its approach to identifying constructs and measures relevant to evaluating genomic medicine as a whole, standardizing data collection across projects, and combining data in a centralized resource for cross-network analyses.ResultsCMG identified 10 high-priority CFIR constructs as important for genomic medicine. Of those, eight did not have standardized measurement instruments. Therefore, we developed four survey tools to address this gap. In addition, we identified seven high-priority constructs related to patients, families, and communities that did not map to CFIR constructs. Both sets of constructs were combined to create a draft genomic medicine implementation model.ConclusionWe developed processes to identify constructs deemed valuable for genomic medicine implementation and codified them in a model. These resources are freely available to facilitate knowledge generation and sharing across the field.

| S-EPMC5851794 | biostudies-literature

IGNITE: Genomic Medicine Implementation - The Personalized Medicine Program

Project description:IGNITE: Genomic Medicine Implementation - The Personalized Medicine Program

| PRJNA606620 | ENA

IGNITE: Genomic Medicine Implementation - The Personalized Medicine Program

Project description:IGNITE: Genomic Medicine Implementation - The Personalized Medicine Program

| PRJNA606621 | ENA

Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network.

Project description:PurposeA critical gap in the adoption of genomic medicine into medical practice is the need for the rigorous evaluation of the utility of genomic medicine interventions.MethodsThe Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN) was formed in 2018 to measure the clinical utility and cost-effectiveness of genomic medicine interventions, to assess approaches for real-world application of genomic medicine in diverse clinical settings, and to produce generalizable knowledge on clinical trials using genomic interventions. Five clinical sites and a coordinating center evaluated trial proposals and developed working groups to enable their implementation.ResultsTwo pragmatic clinical trials (PCTs) have been initiated, one evaluating genetic risk APOL1 variants in African Americans in the management of their hypertension, and the other to evaluate the use of pharmacogenetic testing for medications to manage acute and chronic pain as well as depression.ConclusionIGNITE PTN is a network that carries out PCTs in genomic medicine; it is focused on diversity and inclusion of underrepresented minority trial participants; it uses electronic health records and clinical decision support to deliver the interventions. IGNITE PTN will develop the evidence to support (or oppose) the adoption of genomic medicine interventions by patients, providers, and payers.

| S-EPMC8263480 | biostudies-literature

From evidence-based medicine to genomic medicine.

Project description:The concept of 'evidence-based medicine' dates back to mid-19th century or even earlier. It remains pivotal in planning, funding and in delivering the health care. Clinicians, public health practitioners, health commissioners/purchasers, health planners, politicians and public seek formal 'evidence' in approving any form of health care provision. Essentially 'evidence-based medicine' aims at the conscientious, explicit and judicious use of the current best evidence in making decisions about the care of individual patients. It is in fact the 'personalised medicine' in practice. Since the completion of the human genome project and the rapid accumulation of huge amount of data, scientists and physicians alike are excited on the prospect of 'personalised health care' based on individual's genotype and phenotype. The first decade of the new millennium now witnesses the transition from 'evidence-based medicine' to the 'genomic medicine'. The practice of medicine, including health promotion and prevention of disease, stands now at a wide-open road as the scientific and medical community embraces itself with the rapidly expanding and revolutionising field of genomic medicine. This article reviews the rapid transformation of modern medicine from the 'evidence-based medicine' to 'genomic medicine'.

| S-EPMC2269034 | biostudies-other

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Project description:Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

| S-EPMC4908179 | biostudies-literature

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Project description:PurposeThe NIH Undiagnosed Diseases Network (UDN) evaluates participants with disorders that have defied diagnosis, applying personalized clinical and genomic evaluations and innovative research. The clinical sites of the UDN are essential to advancing the UDN mission; this study assesses their contributions relative to standard clinical practices.MethodsWe analyzed retrospective data from four UDN clinical sites, from July 2015 to September 2019, for diagnoses, new disease gene discoveries and the underlying investigative methods.ResultsOf 791 evaluated individuals, 231 received 240 diagnoses and 17 new disease-gene associations were recognized. Straightforward diagnoses on UDN exome and genome sequencing occurred in 35% (84/240). We considered these tractable in standard clinical practice, although genome sequencing is not yet widely available clinically. The majority (156/240, 65%) required additional UDN-driven investigations, including 90 diagnoses that occurred after prior nondiagnostic exome sequencing and 45 diagnoses (19%) that were nongenetic. The UDN-driven investigations included complementary/supplementary phenotyping, innovative analyses of genomic variants, and collaborative science for functional assays and animal modeling.ConclusionInvestigations driven by the clinical sites identified diagnostic and research paradigms that surpass standard diagnostic processes. The new diagnoses, disease gene discoveries, and delineation of novel disorders represent a model for genomic medicine and science.

| S-EPMC7867619 | biostudies-literature

Project description:Time allocated to nutrition education in the medical school curriculum stands in contrast to high mortality rates attributable to poor diet in patients. Counseling patients on nutrition-related diseases is a critical skill for physicians, particularly those entering primary care. The crowded medical school curriculum has made adding hours of nutrition instruction difficult. This study evaluates the attitudes of undergraduate medical students at a single institution regarding the need for and relevance of nutrition education and reports on organization of and students' responses to a short experimental elective. Student attitudes regarding nutrition in medicine and a proposed nutrition elective were surveyed. Results helped formulate a short experimental elective. A two-session experimental course was completed, after which the participants were surveyed. Students agreed or strongly agreed with statements regarding the importance of nutrition in clinical practice. Greater than 60% of students surveyed in each class were interested in the proposed elective. All participants found the elective with culinary medicine sessions at least moderately useful to their needs as future healthcare providers. The majority of participants (more than 93%) reported being likely to both take and recommend the elective should it be offered in the future. Medical students consider nutrition an essential aspect of a patient encounter, but do not feel prepared to counsel future patients on dietary changes for management and/or prevention of nutrition linked diseases. There is strong student support for creating an elective in clinical nutrition with culinary medicine sessions to address the gap in their education and improve their confidence.Supplementary informationThe online version contains supplementary material available at 10.1007/s40670-021-01346-3.

| S-EPMC8446146 | biostudies-literature

Phase III Precision Medicine Clinical Trial Designs That Integrate Treatment and Biomarker Evaluation.

Project description:Recent advances in biotechnology and cancer genomics have afforded enormous opportunities for development of more effective anticancer therapies. A key thrust of this modern drug development paradigm is successful identification of predictive biomarkers that can distinguish patients who might be sensitive to new targeted therapies. To respond to this challenge, a number of phase III cancer trial designs integrating biomarker-based objectives have been proposed and implemented in oncology drug development. In this article, we provide an updated review of commonly used biomarker-based randomized clinical trial designs, with a particular focus on design efficiency. When the efficacy of a new therapy may be limited to a biomarker-defined subgroup, the choice of an appropriate randomized clinical trial design should be guided by the strength of the biomarker's credentials. If compelling evidence indicates that a targeted therapy is beneficial only in a particular biomarker-defined subgroup, an enrichment design should be used. If there is strong evidence that the treatment is likely to be more beneficial in the biomarker-positive patients but a meaningful benefit is also possible in the biomarker-negative patients, then a properly powered biomarker-stratified design (eg, a subgroup-specific or Marker Sequential Test strategy) would provide the most rigorous determination of the sensitive populations. If the evidence supporting the predictive value of the biomarker is weak and the treatment is expected to work in the overall population, then a fallback design could be used. Careful selection of an appropriate phase III design strategy that integrates evaluation of a new anticancer therapy and its companion diagnostic is critical to the success of precision medicine in oncology.

| S-EPMC7446320 | biostudies-literature

Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study.

Project description:Pragmatic clinical trials (PCTs) have an established presence in clinical research and yet have only recently garnered attention within the landscape of genomic medicine. Using the PRagmatic-Explanatory Continuum Indicator Summary 2 (PRECIS-2) as a framework, this paper illustrates the application of PCT principles to The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study, a trial of pharmacogenetic testing prior to statin initiation for cardiovascular disease prevention in primary care. The trial achieved high engagement with providers (85% enrolled of those approached) and enrolled a representative sample of participants for which statin therapy would be recommended. The I-PICC Study has a high level of pragmatism, which should enhance the generalizability of its findings. The PRECIS-2 may be useful in the design and evaluation of PCTs of genomic medicine interventions, contributing to the generation of evidence that can bridge the gap between genomics innovation and clinical adoption.

| S-EPMC7070795 | biostudies-literature

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