Precision Medicine and Advancing Clinical Care

2019 ◽  
Vol 179 (2) ◽  
pp. 139 ◽  
Author(s):  
David O. Arnar ◽  
Runolfur Palsson
Keyword(s):  
Precision Medicine ◽  
Clinical Care

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.

scholarly journals Contrasting Medical and Legal Standards of Evidence: A Precision Medicine Case Study

2016 ◽  
Vol 44 (1) ◽  
pp. 194-204 ◽  
Author(s):  
Gary E. Marchant ◽  
Kathryn Scheckel ◽  
Doug Campos-Outcalt
Keyword(s):  
Precision Medicine ◽  
New Technologies ◽  
Clinical Care ◽  
Large Body ◽  
Standard Of Care ◽  
Genetic Profile ◽  
Legal Standards ◽  
Standards Of Evidence ◽  
The Individual

As the health care system transitions to a precision medicine approach that tailors clinical care to the genetic profile of the individual patient, there is a potential tension between the clinical uptake of new technologies by providers and the legal system's expectation of the standard of care in applying such technologies. We examine this tension by comparing the type of evidence that physicians and courts are likely to rely on in determining a duty to recommend pharmacogenetic testing of patients prescribed the oral anti-coagulant drug warfarin. There is a large body of inconsistent evidence and factors for and against such testing, but physicians and courts are likely to weigh this evidence differently. The potential implications for medical malpractice risk are evaluated and discussed.

scholarly journals Perspective: The Clinical Use of Polygenic Risk Scores: Race, Ethnicity, and Health Disparities

2019 ◽  
Vol 29 (3) ◽  
pp. 513-516 ◽  
Author(s):  
Megan C. Roberts ◽  
Muin J. Khoury ◽  
George A. Mensah
Keyword(s):  
Precision Medicine ◽  
Association Studies ◽  
Clinical Care ◽  
Genomic Research ◽  
Risk Scores ◽  
Genome Wide Association Studies ◽  
Polygenic Risk ◽  
Adverse Health Outcomes ◽  
Genome Wide ◽  
Disease Risks

Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple gene variants that, taken alone, have weak associations with disease risks, but collec­tively may enhance disease predictive value in the population. However, the benefit of PRS may not be equal among non-European populations, as they are under-represented in genome-wide association studies (GWAS) that serve as the basis for PRS develop­ment. In this perspective, we discuss a path forward, which includes: 1) inclusion of underrepresented populations in PRS research; 2) global efforts to build capacity for genomic research; 3) equitable imple­mentation of these tools in clinical practice; and 4) traditional public health approaches to reduce risk of adverse health outcomes as an important component to precision health. As precision medicine is imple­mented in clinical care, researchers must ensure that advances from PRS research will benefit all.Ethn Dis.2019;29(3):513-516; doi:10.18865/ed.29.3.513.

Impact of precision medicine on clinical care: A single institution retrospective study.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e14601-e14601
Author(s):  
Rajvi Patel ◽  
Ryann Quinn ◽  
Xinhua Zhu
Keyword(s):  
Retrospective Study ◽  
Precision Medicine ◽  
Clinical Care ◽  
Objective Response ◽  
Molecular Characteristics ◽  
Genomic Testing ◽  
Tumor Type ◽  
Lost To Follow Up ◽  
Line Chemotherapy

e14601 Background: In Oncology, precision medicine (PM) looks at molecular characteristics of tumors instead of traditional histology to determine treatment strategies. Examples are EGFR, ALK, BRAF, ROS1 and PD-L1 in non-small cell lung cancer, HER2 in breast and gastric cancer, K-RAS, N-RAS in colon cancer, and MMR/MSI in all solid tumors. Genomic testing is commonly done for patients with advanced cancer resistant to standard treatment. FoundationOne-CDx (F1CDx) is expensive but only FDA approved test for somatic genomic profiling of tumors. It is necessary to review an expensive test and its impact on clinical care. At our institution, we have patients who have had F1CDx testing. Our aim was to determine proportion of tumors that have actionable mutation (AM) for which there are currently FDA or non-FDA approved targeted treatment(s) (TT) available, proportion of pts who received TT, and barriers to receiving TT. Methods: Retrospective study of 1000 patients treated at our institution who had F1CDx testing done between September 2012 and July 2018. Variables collected included primary tumor type, F1CDx results, treatments received, and any barriers. Descriptive statistics including frequencies and proportions were utilized. Results: Of 1000 pts, 652 had tumors harboring AM. Of the 652 pts: 42 went on a clinical trial, 165 received standard next line chemotherapy, 135 received TT (38 pts received currently non-FDA approved TT), 144 either went on hospice or died prior to receiving treatment, 142 were lost to follow up, 21 were treated with surgery only, and 3 had issues with insurance approval of TT. Conclusions: Of the 65% of pts with tumors harboring AM, only 20% received TT. 25% of pts received standard next line chemotherapy. Going on hospice and being lost to follow up largely accounted for patients not receiving TT. Therefore, treating physicians should strongly consider pts’ performance status and co-morbidities prior to sending expensive genomic testing as it may have limited impact on clinical outcome. Our next steps to further investigate will be to look at objective response rate, progression free survival, and overall survival in pts who received non-FDA approved TT.

scholarly journals How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?

2019 ◽  
Vol 29 (Supp) ◽  
pp. 623-628 ◽  
Author(s):  
Susan M. Wolf ◽  
Vence L. Bonham ◽  
Marino A. Bruce
Keyword(s):  
Health Care ◽  
Precision Medicine ◽  
Health Equity ◽  
Health Care Disparities ◽  
Clinical Care ◽  
Legal Issues ◽  
Genomic Research ◽  
Health Coverage ◽  
Barriers To Health ◽  
Legal Barriers

There is growing recognition that the genomic and precision medicine revolution in health care can deepen health disparities. This has produced urgent calls to prioritize inclusion of historically underrepresented populations in research and to make ge­nomic databases more inclusive. Answering the call to address health care disparities in the delivery of genomic and precision medicine requires a consideration of impor­tant, yet understudied, legal issues that have blocked progress. This article introduces a special issue of Ethnicity & Disease, which contains a series of articles that grew out of a public conference to investigate these legal issues and propose solutions.This 2018 conference at Meharry Medical College was part of an NIH-funded project on “LawSeqSM” to evaluate and improve the law of genomics in order to support appro­priate integration of genomics into clinical care. This conference was composed of pre­sentations and interactive sessions designed to specify the top legal barriers to health equity in precision medicine and stimulate potential solutions. This article synthesizes the results of those discussions.Multiple legal barriers limit broad inclusion in genomic research and the development of precision medicine to advance health equity. Problems include inadequate privacy and anti-discrimination protections for re­search participants, lack of health coverage and funding for follow-up care, failure to use law to ensure access to genomic medi­cine, and practices by research sponsors that tolerate and entrench disparities.Analysis of the legal barriers to health equity in precision medicine is essential for progress. Progressive use of law is vital to avoid worsening of health care dispari­ties. Ethn Dis. 2019;29(Suppl 3):623-628; doi:10.18865/ed.29.S3.623

Health Economics Tools and Precision Medicine: Opportunities and Challenges

2020 ◽  
Vol 23 (1) ◽  
Author(s):  
David L. Veenstra ◽  
Jeanne Mandelblatt ◽  
Peter Neumann ◽  
Anirban Basu ◽  
Josh F. Peterson ◽  
...  
Keyword(s):  
Health Economics ◽  
Precision Medicine ◽  
Clinical Care ◽  
Cost Effective ◽  
Appropriate Use ◽  
Research Activities ◽  
Effective Manner ◽  
Genomic Markers ◽  
Key Policy ◽  
Research Investments

AbstractPrecision medicine – individualizing care for patients and addressing variations in treatment response – is likely to be important in improving the nation’s health in a cost-effective manner. Despite this promise, widespread use of precision medicine, specifically genomic markers, in clinical care has been limited in practice to date. Lack of evidence, clear evidence thresholds, and reimbursement have been cited as major barriers. Health economics frameworks and tools can elucidate the effects of legal, regulatory, and reimbursement policies on the use of precision medicine while guiding research investments to enhance the appropriate use of precision medicine. Despite the capacity of economics to enhance the clinical and human impact of precision medicine, application of health economics to precision medicine has been limited – in part because precision medicine is a relatively new field – but also because precision medicine is complex, both in terms of its applications and implications throughout medicine and the healthcare system. The goals of this review are several-fold: (1) provide an overview of precision medicine and key policy challenges for the field; (2) explain the potential utility of economics methods in addressing these challenges; (3) describe recent research activities; and (4) summarize opportunities for cross-disciplinary research.

scholarly journals A Review of Genome-Based Precision Medicine Efforts Within the Department of Defense

2021 ◽  
Vol 187 (Supplement_1) ◽  
pp. 25-31
Author(s):  
Lucas Poon ◽  
Elaine D Por ◽  
Hyun Joon Cho ◽  
Thomas G Oliver
Keyword(s):  
Patient Care ◽  
Precision Medicine ◽  
Department Of Defense ◽  
National Guard ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Care Plan ◽  
Patient Specific ◽  
Pubmed Database ◽  
Genotype Information

ABSTRACT Introduction Providing patient-specific clinical care is an expanding focus for medical professionals and researchers, more commonly referred to as personalized or precision medicine. The goal of using a patient-centric approach is to provide safer care while also increasing the probability of therapeutic success through careful consideration of the influence of certain extrinsic and intrinsic human factors in developing the patient care plan. Of increasing influence on patient care is the phenotype and genotype information gathered from employing various next-generation sequencing methods. Guided by and partnered with our civilian colleagues, clinical components within the DoD are embracing and advancing genomic medicine in many facets—from the bench to the bedside—and in many therapeutic areas, from Psychiatry to Oncology. In this PubMed-based review, we describe published clinical research and interventions within the DoD using genome-informed data and emphasize precision medicine efforts in earlier stages of development with the potential to revolutionize the approach to therapeutics. Materials and Methods The new PubMed database was searched for articles published between 2015 and 2020 with the following key search terms: precision medicine, genomic, pharmacogenetic, pharmacogenomic, US military, and Department of Defense. Results Eighty-one articles were retrieved in our initial search. After screening the abstracts for studies that only involved direct testing of (or clinical interaction with) active duty, Reserve, National Guard, or civilian personnel working within the DoD and excluding any epidemiological or microbial isolation studies, seven were included in this review. Conclusion There are several programs and studies within the DoD, which investigate or use gene-based biomarkers or gene variants to deliver more precise clinical assessment and treatment. These genome-based precision medicine efforts aim to optimize the clinical care of DoD beneficiaries, particularly service members in the operational environment.

Tissue sampling in the era of precision medicine: comparison of percutaneous biopsies performed for clinical trials or tumor genomics versus routine clinical care

2018 ◽  
Vol 44 (6) ◽  
pp. 2074-2080 ◽  
Author(s):  
Anjuli R. Cherukuri ◽  
Meghan G. Lubner ◽  
Ryan Zea ◽  
J. Louis Hinshaw ◽  
Sam J. Lubner ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Precision Medicine ◽  
Clinical Care ◽  
Tissue Sampling ◽  
Routine Clinical Care

scholarly journals Recommendations for patient similarity classes: results of the AMIA 2019 workshop on defining patient similarity

2020 ◽  
Vol 27 (11) ◽  
pp. 1808-1812
Author(s):  
Nathan D Seligson ◽  
Jeremy L Warner ◽  
William S Dalton ◽  
David Martin ◽  
Robert S Miller ◽  
...  
Keyword(s):  
American Medical ◽  
Precision Medicine ◽  
Annual Meeting ◽  
Medical Informatics ◽  
Private Practice ◽  
Clinical Care ◽  
Biotechnology Industry ◽  
Similar Patient ◽  
Common Framework ◽  
American Medical Informatics Association

Abstract Defining patient-to-patient similarity is essential for the development of precision medicine in clinical care and research. Conceptually, the identification of similar patient cohorts appears straightforward; however, universally accepted definitions remain elusive. Simultaneously, an explosion of vendors and published algorithms have emerged and all provide varied levels of functionality in identifying patient similarity categories. To provide clarity and a common framework for patient similarity, a workshop at the American Medical Informatics Association 2019 Annual Meeting was convened. This workshop included invited discussants from academics, the biotechnology industry, the FDA, and private practice oncology groups. Drawing from a broad range of backgrounds, workshop participants were able to coalesce around 4 major patient similarity classes: (1) feature, (2) outcome, (3) exposure, and (4) mixed-class. This perspective expands into these 4 subtypes more critically and offers the medical informatics community a means of communicating their work on this important topic.

scholarly journals Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

2016 ◽  
Vol 23 (4) ◽  
pp. 796-801 ◽  
Author(s):  
James M Hoffman ◽  
Henry M Dunnenberger ◽  
J Kevin Hicks ◽  
Kelly E Caudle ◽  
Michelle Whirl Carrillo ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Point Of Care ◽  
Clinical Care ◽  
Clinical Information ◽  
Clinical Decision ◽  
Knowledge Bases ◽  
Knowledge Resources ◽  
Collective Experience ◽  
Implementation Resources ◽  
Machine Readable

Abstract To move beyond a select few genes/drugs, the successful adoption of pharmacogenomics into routine clinical care requires a curated and machine-readable database of pharmacogenomic knowledge suitable for use in an electronic health record (EHR) with clinical decision support (CDS). Recognizing that EHR vendors do not yet provide a standard set of CDS functions for pharmacogenetics, the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group is developing and systematically incorporating a set of EHR-agnostic implementation resources into all CPIC guidelines. These resources illustrate how to integrate pharmacogenomic test results in clinical information systems with CDS to facilitate the use of patient genomic data at the point of care. Based on our collective experience creating existing CPIC resources and implementing pharmacogenomics at our practice sites, we outline principles to define the key features of future knowledge bases and discuss the importance of these knowledge resources for pharmacogenomics and ultimately precision medicine.

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