scholarly journals Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project

2018 ◽  
Vol 44 (6) ◽  
pp. 397-403 ◽  
Author(s):  
Sandi Dheensa ◽  
Gabrielle Samuel ◽  
Anneke M Lucassen ◽  
Bobbie Farsides
Keyword(s):  
Clinical Practice ◽  
Health Service ◽  
Social Contract ◽  
Ethical Issues ◽  
Clinical Investigation ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Ongoing Research ◽  
Hybrid Nature ◽  
Medicine Service

Clinical practice and research are governed by distinct rules and regulations and have different approaches to, for example, consent and providing results. However, genomics is an example of where research and clinical practice have become codependent. The 100 000 genomes project (100kGP) is a hybrid venture where a person can obtain a clinical investigation only if he or she agrees to also participate in ongoing research—including research by industry and commercial companies. In this paper, which draws on 20 interviews with professional stakeholders involved in 100kGP, we investigate the ethical issues raised by this project’s hybrid nature. While some interviewees thought the hybrid nature of 100kGP was its vanguard, interviewees identified several tensions around hybrid practice: how to decide who should be able to participate; how to determine whether offering results might unduly influence participation into wide-ranging but often as yet unknown research and how to ensure that patients/families do not develop false expectations about receiving results. These areas require further debate as 100kGP moves into routine healthcare in the form of the national genomic medicine service. To address the tensions identified, we explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated. We also argue that enabling ongoing transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help to understand and ensure that expectations remain realistic. Our paper aims to encourage a focused discussion about these issues and to inform a new ‘social contract’ for research and clinical care in the health service.

scholarly journals The ethics of genomic medicine: redefining values and norms in the UK and France

2021 ◽  
Author(s):  
Marie Gaille ◽  
◽  
Ruth Horn
Keyword(s):  
Social Contract ◽  
Ethical Issues ◽  
Social Issues ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Public Healthcare ◽  
Individual Rights ◽  
The Social ◽  
The Uk ◽  
The Impact

AbstractThis paper presents a joint position of the UK-France Genomics and Ethics Network (UK-FR GENE), which has been set up to reflect on the ethical and social issues arising from the integration of genomics into routine clinical care in the UK and France. In 2018, the two countries announced enhanced cooperation between their national strategies, Genomics England and Plan France Médecine Génomique 2025, which offers a unique opportunity to study the impact of genomic medicine and relevant policies in different national contexts. The paper provides first insights into the two national strategies and the norms, values and principles at stake in each country. It discusses the impact of genomic medicine on established relationships and existing regulations, and examines its effects on solidarity and trust in public healthcare systems. Finally, it uses the social contract as an analytical lens to explore and redefine the balance between individual rights and collective duties in the context of genomic medicine. This paper leads to three key observations: (1) despite each country’s strategy being at a different stage of implementation, the two countries face similar ethical issues; (2) each country tries to solve these issues by (re-)defining individual rights and collective duties in its own way; (3) the social contract presents a useful tool to analyse the ways the UK and France address the ethical challenges raised by genomics. This overview lays the groundwork for future in-depth comparison, and drive collaborative research, between the UK and France.

Test genetici e consenso informato

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.

scholarly journals Real-world ethics in palliative care: A systematic review of the ethical challenges reported by specialist palliative care practitioners in their clinical practice

2020 ◽  
pp. 026921632097427
Author(s):  
Guy Schofield ◽  
Mariana Dittborn ◽  
Richard Huxtable ◽  
Emer Brangan ◽  
Lucy Ellen Selman
Keyword(s):  
Systematic Review ◽  
Palliative Care ◽  
Clinical Practice ◽  
Ethical Issues ◽  
Clinical Care ◽  
Ethical Principles ◽  
Original Research ◽  
Specialist Palliative Care ◽  
Ethical Challenges ◽  
Ethical Practice

Background: Ethical issues arise daily in the delivery of palliative care. Despite much (largely theoretical) literature, evidence from specialist palliative care practitioners about day-to-day ethical challenges has not previously been synthesised. This evidence is crucial to inform education and adequately support staff. Aim: To synthesise the evidence regarding the ethical challenges which specialist palliative care practitioners encounter during clinical practice. Design: Systematic review with narrative synthesis (PROSPERO registration CRD42018105365). Quality was dual-assessed using the Mixed-Methods Appraisal Tool. Tabulation, textural description, concept mapping and thematic synthesis were used to develop and present the narrative. Data sources: Seven databases (MEDLINE, Philosopher’s Index, EMBASE, PsycINFO, LILACS, Web of Science and CINAHL) were searched from inception to December 2019 without language limits. Eligible papers reported original research using inductive methods to describe practitioner-reported ethical challenges. Results: A total of 8074 records were screened. Thirteen studies from nine countries were included. Challenges were organised into six themes: application of ethical principles; delivering clinical care; working with families; engaging with institutional structures and values; navigating societal values and expectations; philosophy of palliative care. Challenges related to specific scenarios/contexts rather than the application of general ethical principles, and occurred at all levels (bedside, institution, society, policy). Conclusion: Palliative care practitioners encounter a broad range of contextual ethical challenges, many of which are not represented in palliative care ethics training resources, for example, navigating institutional policies, resource allocation and inter-professional conflict. Findings have implications for supporting ethical practice and training practitioners. The lack of low- and middle- income country data needs addressing.

Introduction to genomics in primary care

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.

scholarly journals Clinical Utilization, Utility, and Reimbursement for Expanded Genomic Panel Testing in Adult Oncology

2020 ◽  
pp. 1038-1048
Author(s):  
Susan J. Hsiao ◽  
Anthony N. Sireci ◽  
Danielle Pendrick ◽  
Christopher Freeman ◽  
Helen Fernandes ◽  
...  
Keyword(s):  
Clinical Practice ◽  
High Risk ◽  
Clinical Utility ◽  
Medical Center ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Tumor Board ◽  
Panel Testing ◽  
Pan Cancer ◽  
Cancer Panel

PURPOSE The routine use of large next-generation sequencing (NGS) pan-cancer panels is required to identify the increasing number of, but often uncommon, actionable alterations to guide therapy. Inconsistent coverage and variable payment is hindering NGS adoption into clinical practice. A review of test utilization, clinical utility, coverage, and reimbursement was conducted in a cohort of patients diagnosed with high-risk cancer who received pan-cancer panel testing as part of their clinical care. MATERIALS AND METHODS The Columbia Combined Cancer Panel (CCCP), a 467-gene panel designed to detect DNA variations in solid and liquid tumors, was performed in the Laboratory of Personalized Genomic Medicine at Columbia University Irving Medical Center. Utilization was characterized at test order. Results were reviewed by a molecular pathologist, followed by a multidisciplinary molecular tumor board where clinical utility was classified by consensus. Reimbursement was reviewed after payers provided final coverage decisions. RESULTS NGS was performed on 359 high-risk tumors from 349 patients. Reimbursement data were available for 246 cases. The most common reason providers ordered CCCP testing was for patients diagnosed with a treatment-resistant or recurrent tumor (n = 214; 61%). Findings were clinically impactful for 229 cases (64%). Molecular alterations that may inform future therapy in the event of progression or relapse were found in 42% of cases, and a targeted therapy was initiated in 23 cases (6.6%). The majority of tests were denied coverage by payers (n = 190; 77%). On average, insurers reimbursed 10.75% of the total NGS service charge. CONCLUSION CCCP testing identified clinically impactful alterations in 64% of cases. Limited coverage and low reimbursement remain barriers, and broader reimbursement policies are needed to adopt pan-cancer NGS testing that benefits patients into clinical practice.

Pharmacogenomics in Pain Management: A Review of Relevant Gene-Drug Associations and Clinical Considerations

2021 ◽  
pp. 106002802110038
Author(s):  
Emily Brandl ◽  
Zachery Halford ◽  
Matthew D. Clark ◽  
Chris Herndon
Keyword(s):  
Clinical Practice ◽  
Pain Management ◽  
Health Care Professionals ◽  
Data Extraction ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Opioid Use Disorder ◽  
Patient Specific ◽  
Therapeutic Effects ◽  
Opioid Use

Objective: To provide an overview of clinical recommendations regarding genomic medicine relating to pain management and opioid use disorder. Data Sources: A literature review was conducted using the search terms pain management, pharmacogenomics, pharmacogenetics, pharmacokinetics, pharmacodynamics, and opioids on PubMed (inception to February 1, 2021), CINAHL (2016 through February 1, 2021), and EMBASE (inception through February 1, 2021). Study Selection and Data Extraction: All relevant clinical trials, review articles, package inserts, and guidelines evaluating applicable pharmacogenotypes were considered for inclusion. Data Synthesis: More than 300 Food and Drug Administration–approved medications contain pharmacogenomic information in their labeling. Genetic variability may alter the therapeutic effects of commonly prescribed pain medications. Pharmacogenomic-guided therapy continues to gain traction in clinical practice, but a multitude of barriers to widespread pharmacogenomic implementation exist. Relevance to Patient Care and Clinical Practice: Pain is notoriously difficult to treat given the need to balance safety and efficacy when selecting pharmacotherapy. Pharmacogenomic data can help optimize outcomes for patients with pain. With improved technological advances, more affordable testing, and a better understanding of genomic variants resulting in treatment disparities, pharmacogenomics continues to gain popularity. Unfortunately, despite these and other advancements, pharmacogenomic testing and implementation remain underutilized and misunderstood in clinical care, in part because of a lack of health care professionals trained in assessing and implementing test results. Conclusions: A one-size-fits-all approach to pain management is inadequate and outdated. With increasing genomic data and pharmacogenomic understanding, patient-specific genomic testing offers a comprehensive and personalized treatment alternative worthy of additional research and consideration.

Confronting the grey zone after severe brain injury

2019 ◽  
Vol 3 (6) ◽  
pp. 707-711 ◽  
Author(s):  
Andrew Peterson ◽  
Adrian M. Owen
Keyword(s):  
Brain Injury ◽  
Ethical Issues ◽  
Vegetative State ◽  
Clinical Care ◽  
Grey Zone ◽  
Severe Brain Injury ◽  
New Methods ◽  
Legal Decision Making ◽  
Technological Developments ◽  
The Brain

In recent years, rapid technological developments in the field of neuroimaging have provided several new methods for revealing thoughts, actions and intentions based solely on the pattern of activity that is observed in the brain. In specialized centres, these methods are now being employed routinely to assess residual cognition, detect consciousness and even communicate with some behaviorally non-responsive patients who clinically appear to be comatose or in a vegetative state. In this article, we consider some of the ethical issues raised by these developments and the profound implications they have for clinical care, diagnosis, prognosis and medical-legal decision-making after severe brain injury.

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