Ethical and legal challenges of personalized medicine: Paradigmatic examples of research, prevention, diagnosis and treatment

Cordeiro, João V.

doi:10.1016/j.rpsp.2014.10.002

Cited by 5 publications

(6 citation statements)

References 112 publications

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“…At the core of this transformation is an increased capacity to process large quantities of health data using digital means ( 15 , 16 ). Big data in healthcare originates from different sources, including biological and social determinants, health records, environmental signals, habits, and behaviors ( 19 , 132 , 133 ). Against this backdrop, telemedicine and telehealth services expanded significantly in recent years, particularly during the COVID-19 pandemic ( 10 ).…”

Section: Discussionmentioning

confidence: 99%

Digital Technologies and Data Science as Health Enablers: An Outline of Appealing Promises and Compelling Ethical, Legal, and Social Challenges

Cordeiro

2021

Front. Med.

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Digital technologies and data science have laid down the promise to revolutionize healthcare by transforming the way health and disease are analyzed and managed in the future. Digital health applications in healthcare include telemedicine, electronic health records, wearable, implantable, injectable and ingestible digital medical devices, health mobile apps as well as the application of artificial intelligence and machine learning algorithms to medical and public health prognosis and decision-making. As is often the case with technological advancement, progress in digital health raises compelling ethical, legal, and social implications (ELSI). This article aims to succinctly map relevant ELSI of the digital health field. The issues of patient autonomy; assessment, value attribution, and validation of health innovation; equity and trustworthiness in healthcare; professional roles and skills and data protection and security are highlighted against the backdrop of the risks of dehumanization of care, the limitations of machine learning-based decision-making and, ultimately, the future contours of human interaction in medicine and public health. The running theme to this article is the underlying tension between the promises of digital health and its many challenges, which is heightened by the contrasting pace of scientific progress and the timed responses provided by law and ethics. Digital applications can prove to be valuable allies for human skills in medicine and public health. Similarly, ethics and the law can be interpreted and perceived as more than obstacles, but also promoters of fairness, inclusiveness, creativity and innovation in health.

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Section: Discussionmentioning

confidence: 99%

Digital Technologies and Data Science as Health Enablers: An Outline of Appealing Promises and Compelling Ethical, Legal, and Social Challenges

Cordeiro

2021

Front. Med.

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“…Then, patients can be treated and monitored in specific ways to meet their individual needs. 29 - 32 …”

Section: Discussionmentioning

confidence: 99%

“…Then, patients can be treated and monitored in specific ways to meet their individual needs. [29][30][31][32] Personal health data are soaring with increasing number of mobile health applications. Mobile health has grown exponentially over the last several years and is expected to worth about $20.7 billion by 2018, with nearly 96 million users.…”

Section: Related Workmentioning

confidence: 99%

Visual Analytics of Genomic and Cancer Data: A Systematic Review

Lau

Nguyễn

et al. 2019

Cancer Inform

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Visual analytics and visualisation can leverage the human perceptual system to interpret and uncover hidden patterns in big data. The advent of next-generation sequencing technologies has allowed the rapid production of massive amounts of genomic data and created a corresponding need for new tools and methods for visualising and interpreting these data. Visualising genomic data requires not only simply plotting of data but should also offer a decision or a choice about what the message should be conveyed in the particular plot; which methodologies should be used to represent the results must provide an easy, clear, and accurate way to the clinicians, experts, or researchers to interact with the data. Genomic data visual analytics is rapidly evolving in parallel with advances in high-throughput technologies such as artificial intelligence (AI) and virtual reality (VR). Personalised medicine requires new genomic visualisation tools, which can efficiently extract knowledge from the genomic data and speed up expert decisions about the best treatment of individual patient’s needs. However, meaningful visual analytics of such large genomic data remains a serious challenge. This article provides a comprehensive systematic review and discussion on the tools, methods, and trends for visual analytics of cancer-related genomic data. We reviewed methods for genomic data visualisation including traditional approaches such as scatter plots, heatmaps, coordinates, and networks, as well as emerging technologies using AI and VR. We also demonstrate the development of genomic data visualisation tools over time and analyse the evolution of visualising genomic data.

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“…The issue of privacy is central to precision medicine because patients must feel confident in sharing information with their healthcare providers and be guided by recommendations that often hinge on their specific genetic variations. By ensuring this, it becomes possible to align scientific and technological advancements with the concerns, principles, and values of society [73]. In genetic testing, informed consent is of paramount importance due to the profound implications of using a patient's genetic material.…”

Section: Strengths and Barriers To Genetic Testing In Hlmentioning

confidence: 99%

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

De Rosa,

Bernardi,

Kleppe

et al. 2024

Genes

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Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every 1000 births, with ~50–60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.

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Ethical and legal challenges of personalized medicine: Paradigmatic examples of research, prevention, diagnosis and treatment

Cited by 5 publications

References 112 publications

Digital Technologies and Data Science as Health Enablers: An Outline of Appealing Promises and Compelling Ethical, Legal, and Social Challenges

Digital Technologies and Data Science as Health Enablers: An Outline of Appealing Promises and Compelling Ethical, Legal, and Social Challenges

Visual Analytics of Genomic and Cancer Data: A Systematic Review

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

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