scholarly journals Precision Medicine—A Demand Signal for Genomics Education

2021 ◽  
Vol 187 (Supplement_1) ◽  
pp. 40-46
Author(s):  
Bruce Doll ◽  
Mauricio J De Castro ◽  
Melissa H Fries ◽  
Arnyce R Pock ◽  
Diane Seibert ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Policy Development ◽  
Cancer Genomics ◽  
Research Effort ◽  
Genomic Medicine ◽  
Privacy And Security ◽  
Military Health ◽  
Poor Access ◽  
The Many ◽  
Genomics Education

ABSTRACT Pressed by the accumulating knowledge in genomics and the proven success of the translation of cancer genomics to clinical practice in oncology, the Obama administration unveiled a $215 million commitment for the Precision Medicine Initiative (PMI) in 2016, a pioneering research effort to improve health and treat disease using a new model of patient-powered research. The objectives of the initiative include more effective treatments for cancer and other diseases, creation of a voluntary national research cohort, adherence to privacy protections for maintaining data sharing and use, modernization of the regulatory framework, and forging public–private partnerships to facilitate these objectives. Specifically, the DoD Military Health System joined other agencies to execute a comprehensive effort for PMI. Of the many challenges to consider that may contribute to the implementation of genomics—lack of familiarity and understanding, poor access to genomic medicine expertise, needs for extensive informatics and infrastructure to integrate genomic results, privacy and security, and policy development to address the unique requirements of military medical practice—we will focus on the need to establish education in genomics appropriate to the provider’s responsibilities. Our hypothesis is that there is a growing urgency for the development of educational experiences, formal and informal, to enable clinicians to acquire competency in genomics commensurate with their level of practice. Several educational approaches, both in practice and in development, are presented to inform decision-makers and empower military providers to pursue courses of action that respond to this need.

scholarly journals Genome sequencing in the clinic: the past, present, and future of genomic medicine

2018 ◽  
Vol 50 (8) ◽  
pp. 563-579 ◽  
Author(s):  
Jeremy W. Prokop ◽  
Thomas May ◽  
Kim Strong ◽  
Stephanie M. Bilinovich ◽  
Caleb Bupp ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Genome Sequencing ◽  
Clinical Setting ◽  
Structural Changes ◽  
New Technologies ◽  
Cancer Genomics ◽  
Genomic Medicine ◽  
Driver Gene ◽  
The Past ◽  
The Future

Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis. The tools of genomics have resolved the etiology of disease for previously undiagnosable conditions, identified cancer driver gene variants, and have impacted the understanding of pathophysiology for many diseases. However, this expansion of use has also highlighted research’s current voids in knowledge. The lack of precise animal models for gene-to-function association, lack of tools for analysis of genomic structural changes, skew in populations used for genetic studies, publication biases, and the “Unknown Proteome” all contribute to voids needing filled for genomics to work in a fast-paced clinical setting. The future will hold the tools to fill in these voids, with new data sets and the continual development of new technologies allowing for expansion of genomic medicine, ushering in the days to come for precision medicine. In this review we highlight these and other points in hopes of advancing and guiding precision medicine into the future for optimal success.

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

2021 ◽  
Vol 11 (7) ◽  
pp. 647
Author(s):  
Nina R. Sperber ◽  
Olivia M. Dong ◽  
Megan C. Roberts ◽  
Paul Dexter ◽  
Amanda R. Elsey ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Program Implementation ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Implementation Strategies ◽  
Clinical Decision ◽  
Implementing Change ◽  
Implementation Outcomes ◽  
Planning Framework

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.

Trailblazing Precision Medicine in Europe: a joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

2021 ◽  
Author(s):  
Albrecht Stenzinger ◽  
Anders Edsjö ◽  
Carolin Ploeger ◽  
Mikaela Friedman ◽  
Stefan Fröhling ◽  
...  
Keyword(s):  
Personalized Medicine ◽  
Precision Medicine ◽  
Genomic Medicine

Genomic Medicine Frontier in Human Solid Tumors: Prospects and Challenges

2013 ◽  
Vol 31 (15) ◽  
pp. 1874-1884 ◽  
Author(s):  
Rodrigo Dienstmann ◽  
Jordi Rodon ◽  
Jordi Barretina ◽  
Josep Tabernero
Keyword(s):  
Solid Tumors ◽  
Cancer Progression ◽  
Cancer Genomics ◽  
Genomic Medicine ◽  
Genomic Data ◽  
Cost Effective ◽  
Assessment Model ◽  
Historical View ◽  
Systemic Treatments ◽  
Human Solid Tumors

Recent discoveries of genomic alterations that underlie and promote the malignant phenotype, together with an expanded repertoire of targeted agents, have provided many opportunities to conduct hypothesis-driven clinical trials. The ability to profile each unique cancer for actionable aberrations by using high-throughput technologies in a cost-effective way provides unprecedented opportunities for using matched therapies in a selected patient population. The major challenges are to integrate and make biologic sense of the substantial genomic data derived from multiple platforms. We define two different approaches for the analysis, interpretation, and clinical applicability of genomic data: (1) the genomically stratified model originates from the “one test-one drug” paradigm and is currently being expanded with an upfront multicategorical approach following recent advances in multiplexed genotyping platforms; and (2) the comprehensive assessment model is based on whole-genome, -exome, and -transcriptome data and allows identification of novel drivers and subsequent therapies in the experimental setting. Tumor heterogeneity and evolution of the diverse populations of cancer cells during cancer progression, influenced by the effects of systemic treatments, will need to be addressed in the new scenario of early drug development. Logistical issues related to prescreening strategies and trial allocation, in addition to concerns in the economic and ethical domains, must be taken into consideration. Here we present a historical view of how increased understanding of cancer genomics has been translated to the clinic and discuss the prospects and challenges for further implementation of a personalized treatment strategy for human solid tumors.

scholarly journals The Many Faces of Astrocytes in Alzheimer's Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Michael D. Monterey ◽  
Haichao Wei ◽  
Xizi Wu ◽  
Jia Qian Wu
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Research Effort ◽  
Reactive Astrocytes ◽  
Sequencing Technologies ◽  
Recent Developments ◽  
Current Therapies ◽  
Pathological Development ◽  
The Many

Alzheimer's disease (AD) is a progressive neurodegenerative disease and is the most common cause of dementia in an aging population. The majority of research effort has focused on the role of neurons in neurodegeneration and current therapies have limited ability to slow disease progression. Recently more attention has been given to the role of astrocytes in the process of neurodegeneration. Specifically, reactive astrocytes have both advantageous and adverse effects during neurodegeneration. The ability to isolate and depict astrocyte phenotype has been challenging. However, with the recent development of single-cell sequencing technologies researchers are provided with the resource to delineate specific biomarkers associated with reactive astrocytes in AD. In this review, we will focus on the role of astrocytes in normal conditions and the pathological development of AD. We will further review recent developments in the understanding of astrocyte heterogeneity and associated biomarkers. A better understanding of astrocyte contributions and phenotypic changes in AD can ultimately lead to more effective therapeutic targets.

The Johns Hopkins Molecular Tumor Board Precision Oncology elective for Medical Oncology fellows.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 11035-11035
Author(s):  
Kristen Marrone ◽  
Jessica Tao ◽  
Jenna VanLiere Canzoniero ◽  
Paola Ghanem ◽  
Emily Nizialek ◽  
...  
Keyword(s):  
Decision Making ◽  
Precision Medicine ◽  
Clinical Decision Making ◽  
Cancer Genomics ◽  
Medical Oncology ◽  
Clinical Decision ◽  
Tumor Board ◽  
Precision Oncology ◽  
Adaptive Expertise ◽  
Molecular Tumor Board

11035 Background: The accelerated impact of next generation sequencing (NGS) in clinical decision making requires the integration of cancer genomics and precision oncology focused training into medical oncology education. The Johns Hopkins Molecular Tumor Board (JH MTB) is a multi-disciplinary effort focused on integration of NGS findings with critical evidence interpretation to generate personalized recommendations tailored to the genetic footprint of individual patients. Methods: The JH MTB and the Medical Oncology Fellowship Program have developed a 3-month precision oncology elective for fellows in their research years. Commencing fall of 2020, the goals of this elective are to enhance the understanding of NGS platforms and findings, advance the interpretation and characterization of molecular assay outputs by use of mutation annotators and knowledgebases and ultimately master the art of matching NGS findings with available therapies. Fellow integration into the MTB focuses on mentored case-based learning in mutation characterization and ranking by levels of evidence for actionability, with culmination in form of verbal presentations and written summary reports of final MTB recommendations. A mixed methods questionnaire was administered to evaluate progress since elective initiation. Results: Three learners who have participated as of February 2021 were included. Of the two who had completed the MTB elective, each have presented at least 10 cases, with at least 1 scholarly publication planned. All indicated strong agreement that MTB elective had increased their comfort with interpreting clinical NGS reports as well as the use of knowledgebases and variant annotators. Exposure to experts in the field of molecular precision oncology, identification of resources necessary to interpret clinical NGS reports, development of ability to critically assess various NGS platforms, and gained familiarity with computational analyses relevant to clinical decision making were noted as strengths of the MTB elective. Areas of improvement included ongoing initiatives that involve streamlining variant annotation and transcription of information for written reports. Conclusions: A longitudinal elective in the JHU MTB has been found to be preliminarily effective in promoting knowledge mastery and creating academic opportunities related to the clinical application of precision medicine. Future directions will include leveraging of the MTB infrastructure for research projects, learner integration into computational laboratory meetings, and expansion of the MTB curriculum to include different levels of learners from multiple medical education programs. Continued elective participation will be key to understanding how best to facilitate adaptive expertise in assigning clinical relevance to genomic findings, ultimately improving precision medicine delivery in patient care and trial development.

scholarly journals Two Threats to Precision Medicine Equity

2019 ◽  
Vol 29 (Supp) ◽  
pp. 629-640
Author(s):  
Dayna Bowen Matthew
Keyword(s):  
United States ◽  
Precision Medicine ◽  
Care Delivery ◽  
Research Effort ◽  
The United States ◽  
Medical Product ◽  
Great Promise ◽  
Sequencing Technologies ◽  
Legal Duty ◽  
Precision Medicine Initiative

In January 2015, President Barack Obama unveiled the “Precision Medicine Initiative,” a nationwide research effort to help bring an effective, preventive, and therapeutic approach to medicine. The purpose of the initiative is to bring a precise understanding of the genetic and environmental determi­nants of disease into clinical settings across the United States.1 The announcement was coupled with $216 million provided in the President’s proposed budget for a million-person national research cohort including public and private partnerships with academic medical centers, research­ers, foundations, privacy experts, medical ethicists, and medical product innovators. The Initiative promises to expand the use of precision medicine in cancer research and modernize regulatory approval processes for genome sequencing technologies. In response, Congress passed the 21st Century Cures Act in December 2016, authorizing a total of $1.5 billion over 10 years for the program.2 Although the Precision Medicine Initiative heralds great promise for the future of disease treatment and eradication, its implementation and development must be carefully guided to ensure that the millions of federal dollars expended will be spent equitably. This commentary discusses two key threats to the Precision Medicine Initia­tive’s ability to proceed in a manner consis­tent with the United States Constitutional requirement that the federal government shall not “deny to any person . . . the equal protection of the laws.”3 In short, this com­mentary sounds two cautionary notes, in order to advance precision medicine equity. First, achieving precision medicine equity will require scientists and clinicians to fulfill their intellectual, moral, and indeed legal duty to work against abusive uses of preci­sion medicine science to advance distorted views of racial group variation.Precision medicine scientists must decisively denounce and distinguish this Initiative from the pseudo-science of eugenics – the im­moral and deadly pseudo-science that gave racist and nationalist ideologies what Troy Duster called a “halo of legitimacy” during the first half of the 20th century.4 Second, to combat the social threat to precision medicine, scientists must incorporate a comprehensive, ecological understanding of the fundamental social and environ­mental determinants of health outcomes in all research. Only then will the Precision Medicine Initiative live up to its potential to improve and indeed transform health care delivery for all patients, regardless of race, color, or national origin.Ethn Dis: 2019;29(Suppl 3):629-640; doi:10.18865/ed.29.S3.629

The road map of cancer precision medicine with the innovation of advanced cancer detection technology and personalized immunotherapy

2019 ◽  
Vol 49 (7) ◽  
pp. 596-603 ◽  
Author(s):  
Siew-Kee Low ◽  
Yusuke Nakamura
Keyword(s):  
Precision Medicine ◽  
Cancer Detection ◽  
Cancer Genomics ◽  
Circulating Tumor Dna ◽  
Current Status ◽  
Complex Data ◽  
Medical Care System ◽  
Sequencing Technologies ◽  
Road Map ◽  
Detection Technology

Abstract The advancement of cancer genomics research due to the development of next generation sequencing technologies is going to bring the promise of cancer precision medicine, in turn revolutionizing cancer detection and treatment. In this review, we will discuss the possible road map for implementation of cancer precision medicine into the clinical practice by mainly focusing on the role of liquid biopsy, particularly circulating tumor DNA, as a potential tool for cancer screening, selection of an appropriate drug(s), surveillance of minimal residual diseases, and early detection of recurrence. We will also review the current status of genome-driven oncology and emerging field of immunotherapies that could be provided to patients to improve their clinical outcome and quality of life. Lastly, we will discuss the usefulness of artificial intelligence that facilitate complex data integration in our health care/medical care system.

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