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

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.

Download Full-text

Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories

ACI Open ◽

10.1055/s-0040-1721480 ◽

2020 ◽

Vol 04 (02) ◽

pp. e167-e172

Author(s):

Srikar Chamala ◽

Siddardha Majety ◽

Shesh Nath Mishra ◽

Kimberly J. Newsom ◽

Shaileshbhai Revabhai Gothi ◽

...

Keyword(s):

Patient Care ◽

Clinical Laboratory ◽

Clinical Care ◽

Genomic Medicine ◽

Clinical Pathology ◽

Genetic Mutation ◽

Genomic Research ◽

Pathology Laboratory ◽

Clinical Bioinformatics ◽

Effective Implementation

AbstractPatient care is rapidly evolving toward the inclusion of precision genomic medicine when genomic tests are used by clinicians to determine disease predisposition, prognosis, diagnosis, and improve therapeutic decision-making. However, unlike other clinical pathology laboratory tests, the development, deployment, and delivery of genomic tests and results are an intricate process. Genomic technologies are diverse, fast changing, and generate massive data. Implementation of these technologies in a Clinical Laboratory Improvement Amendments-certified and College of American Pathologists-accredited pathology laboratory often require custom clinical grade computational data analysis and management workflows. Additionally, accurate classification and reporting of clinically actionable genetic mutation requires well-curated disease/application-specific knowledgebases and expertise. Moreover, lack of “out of the box” technical features in electronic health record systems necessitates custom solutions for communicating genetic information to clinicians and patients. Genomic data generated as part of clinical care easily adds great value for translational research. In this article, we discuss current and future innovative clinical bioinformatics solutions and workflows developed at our institution for effective implementation of precision genomic medicine across molecular pathology, patient care, and translational genomic research.

Download Full-text

Test genetici e consenso informato

SALUTE E SOCIETÀ ◽

10.3280/ses2012-003005 ◽

2012 ◽

pp. 68-95

Author(s):

Marco Seri ◽

Claudio Graziano ◽

Daniela Turchetti ◽

Juri Monducci

Keyword(s):

Dna Sequencing ◽

Human Genetics ◽

Ethical Issues ◽

Clinical Care ◽

Genomic Medicine ◽

Genome Project ◽

Ethical Challenges ◽

Sequencing Technologies ◽

The Human Genome Project

The pace of discovery in the field of human genetics has increased exponentially in the last 30 years. We have witnessed the completion of the Human Genome Project, the identification of hundreds of disease-causing genes, and the dawn of genomic medicine (clinical care based on genomic information). Reduction of DNA sequencing costs, thanks to the so-called "next generation sequencing" technologies, is driving a shift towards the era of "personal genomes", but scientific as well as ethical challenges ahead are countless. We provide an overview on the classification of genetic tests, on informed consent procedures in the context of genetic counseling, and on specific ethical issues raised by the implementation of new DNA sequencing technologies.

Download Full-text

NCOG-18. RELATIONSHIP BETWEEN RANO-PRO WORKING GROUP STANDARDIZED PRIORITY CONSTRUCTS AND DISEASE PROGRESSION AMONG MALIGNANT GLIOMA PATIENTS AS MEASURED THROUGH CLINICAL OUTCOMES ASSESSMENTS

Neuro-Oncology ◽

10.1093/neuonc/noab196.609 ◽

2021 ◽

Vol 23 (Supplement_6) ◽

pp. vi155-vi156

Author(s):

Elizabeth Vera ◽

Tito Mendoza ◽

Alvina Acquaye ◽

Nicole Briceno ◽

Anna Choi ◽

...

Keyword(s):

Malignant Glioma ◽

Disease Progression ◽

Clinical Outcomes ◽

Stable Disease ◽

Working Group ◽

Karnofsky Performance Status ◽

Clinical Care ◽

Self Care ◽

Work Activity ◽

Core Symptoms

Abstract Recognizing the importance of clinical outcomes assessments (COA), the RANO-PRO Working Group recommends inclusion of core symptoms/functions in clinical care/research for malignant glioma patients. This study evaluated the association between the recommended symptoms (pain, perceived cognition, seizures, aphasia, treatment-specific symptoms) and functions (physical: weakness, walking; and role/social: work, usual activities) and disease progression in these patients. MDASI-Brain Tumor and EQ-5D-3L scores, Karnofsky Performance Status (KPS), and Neurologic Function Score (NFS) were evaluated in relation to disease progression by chi-square tests, independent- and paired-samples t-tests, adjusted for multiple comparisons. Our sample included 336 patients with malignant glioma; 82% white, 64% male, median age=52 (21-79). Imaging study revealed disease progression for 46% of patients. All symptoms except seizures and difficulty concentrating were worse in the group whose imaging showed disease progression versus stable disease, as well as the functions of walking, work, activity, and self-care (0.8 < difference < 1.8). Patients with disease progression were 4 times more likely to have a poor KPS (≤ 80) and worse NFS. Among patients with disease progression (n=112), all symptoms, except seizures, worsened from first assessment to time of progression. Up to 22% of patients reported worsening mobility, self-care, and usual activity; 46% and 35% had worsened KPS and NFS, respectively. Seven symptoms and functions were each individually reported by at least 10% of patients as having worsened the most. Worsening of symptoms and functions was not observed among patients with stable disease, except in difficulty understanding. Identified core symptoms/functions worsen at the time of progression demonstrating the relationship between priority constructs and a traditional tumor response measure while highlighting the importance of longitudinal collection of COA. The pattern of worsening was observed via both patient- and clinician-reported outcomes, emphasizing the utility of COA in clinical care and clinical trials.

Download Full-text

Drug-Induced Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis Call for Optimum Patient Stratification and Theranostics via Pharmacogenomics

Annual Review of Genomics and Human Genetics ◽

10.1146/annurev-genom-083115-022324 ◽

2018 ◽

Vol 19 (1) ◽

pp. 329-353 ◽

Cited By ~ 6

Author(s):

Chonlaphat Sukasem ◽

Theodora Katsila ◽

Therdpong Tempark ◽

George P. Patrinos ◽

Wasun Chantratita

Keyword(s):

Toxic Epidermal Necrolysis ◽

Clinical Care ◽

Genomic Medicine ◽

Stevens Johnson Syndrome ◽

Future Research ◽

Great Promise ◽

Patient Stratification ◽

Clinical Implementation ◽

Drug Induced ◽

Johnson Syndrome

The Global Genomic Medicine Collaborative, a multinational coalition of genomic and policy experts working to implement genomics in clinical care, considers pharmacogenomics to be among the first areas in genomic medicine that can provide guidance in routine clinical practice, by linking genetic variation and drug response. Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe life-threatening reactions to medications with a high incidence worldwide. Genomic screening prior to drug administration is a key opportunity and potential paradigm for using genomic medicine to reduce morbidity and mortality and ultimately eliminate one of the most devastating adverse drug reactions. This review focuses on the current understanding of the surveillance, pathogenesis, and treatment of SJS/TEN, including the role of genomics and pharmacogenomics in the etiology, treatment, and eradication of preventable causes of drug-induced SJS/TEN. Gaps, unmet needs, and priorities for future research have been identified for the optimal management of drug-induced SJS/TEN in various ethnic populations. Pharmacogenomics holds great promise for optimal patient stratification and theranostics, yet its clinical implementation needs to be cost-effective and sustainable.

Download Full-text

Towards Clinical Bioinformatics: Advancing Genomic Medicine with Informatics Methods and Tools

Methods of Information in Medicine ◽

10.1055/s-0038-1633872 ◽

2004 ◽

Vol 43 (03) ◽

pp. 302-307 ◽

Cited By ~ 10

Author(s):

E. Ammenwerth ◽

R. Brandner ◽

B. Brigl ◽

G. Fischer ◽

S. Garde ◽

...

Keyword(s):

Medical Informatics ◽

Clinical Medicine ◽

Special Section ◽

Clinical Care ◽

Genomic Medicine ◽

International Health ◽

Knowledge Resources ◽

Clinical Bioinformatics ◽

Recent Developments ◽

Key Issues

Summary Objectives: To summarize the challenges facing clinical applications in the light of growing research results in genomic medicine and bioinformatics. Methods: Analysis of the contents of the Yearbook of Medical Informatics 2004 of the International Medical Informatics Association (IMIA). Results: The Yearbook of Medical Informatics 2004 includes 32 articles selected from 22 peer-reviewed scientific journals. A special section on clinical bio-informatics highlights recent developments in this field. Several guest editors review the promises and limitations of available methods and resources from biomedical informatics that are relevant to clinical medicine. Integrated data and knowledge resources are generally regarded to be central and key issues for clinical bioinformatics. Further review papers deal with public health implications of bioinformatics, knowledge management and trends in health care education. The Yearbook includes for the first time a section on the history of medical informatics, where the significant impact of the Reisensburg protocol 1973 on international health and medical informatics education is examined. Conclusions: Close collaboration between bio-informatics and medical informatics researchers can contribute to new insights in genomic medicine and contribute towards the more efficient and effective use of genomic data to advance clinical care.

Download Full-text

Introduction to genomics in primary care

InnovAiT Education and inspiration for general practice ◽

10.1177/1755738020974055 ◽

2020 ◽

pp. 175573802097405

Author(s):

Alexandra Whiter ◽

Eamonn Sheridan ◽

Judith Hayward ◽

Imran Rafi

Keyword(s):

Primary Care ◽

Clinical Care ◽

Genomic Medicine ◽

Genomic Testing ◽

Routine Clinical Care ◽

Genomic Test ◽

Medicine Service ◽

Recent Developments ◽

Primary Care Practitioners ◽

Test Result

Advances in genomic technology and the launch of the NHS Genomic Medicine Service (GMS) in 2018 have firmly embedded genomic testing within routine clinical care. As the gateway to the NHS, primary care practitioners will be managing increasing numbers of patients who are eligible for genomic testing, or who present with their own, or a family member’s genomic test result. This article provides an overview of recent developments in the field of genomics, explains key concepts and terminology, and details the current organisation of the genomics services under the GMS. It also discusses some common presentations within primary care to highlight the relevance of genomics to frontline GPs.

Download Full-text