Dataset Information

On the Role of Artificial Intelligence in Genomics to Enhance Precision Medicine.

ABSTRACT: The complexity of orphan diseases, which are those that do not have an effective treatment, together with the high dimensionality of the genetic data used for their analysis and the high degree of uncertainty in the understanding of the mechanisms and genetic pathways which are involved in their development, motivate the use of advanced techniques of artificial intelligence and in-depth knowledge of molecular biology, which is crucial in order to find plausible solutions in drug design, including drug repositioning. Particularly, we show that the use of robust deep sampling methodologies of the altered genetics serves to obtain meaningful results and dramatically decreases the cost of research and development in drug design, influencing very positively the use of precision medicine and the outcomes in patients. The target-centric approach and the use of strong prior hypotheses that are not matched against reality (disease genetic data) are undoubtedly the cause of the high number of drug design failures and attrition rates. Sampling and prediction under uncertain conditions cannot be avoided in the development of precision medicine.

SUBMITTER: Alvarez-Machancoses O

PROVIDER: S-EPMC7090191 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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On the Role of Artificial Intelligence in Genomics to Enhance Precision Medicine.

Álvarez-Machancoses Óscar Ó DeAndrés Galiana Enrique J EJ Cernea Ana A Fernández de la Viña J J Fernández-Martínez Juan Luis JL

Pharmacogenomics and personalized medicine 20200319

The complexity of orphan diseases, which are those that do not have an effective treatment, together with the high dimensionality of the genetic data used for their analysis and the high degree of uncertainty in the understanding of the mechanisms and genetic pathways which are involved in their development, motivate the use of advanced techniques of artificial intelligence and in-depth knowledge of molecular biology, which is crucial in order to find plausible solutions in drug design, includin ...[more]

PMID: 32256101

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Project description:Precision medicine is one of the recent and powerful developments in medical care, which has the potential to improve the traditional symptom-driven practice of medicine, allowing earlier interventions using advanced diagnostics and tailoring better and economically personalized treatments. Identifying the best pathway to personalized and population medicine involves the ability to analyze comprehensive patient information together with broader aspects to monitor and distinguish between sick and relatively healthy people, which will lead to a better understanding of biological indicators that can signal shifts in health. While the complexities of disease at the individual level have made it difficult to utilize healthcare information in clinical decision-making, some of the existing constraints have been greatly minimized by technological advancements. To implement effective precision medicine with enhanced ability to positively impact patient outcomes and provide real-time decision support, it is important to harness the power of electronic health records by integrating disparate data sources and discovering patient-specific patterns of disease progression. Useful analytic tools, technologies, databases, and approaches are required to augment networking and interoperability of clinical, laboratory and public health systems, as well as addressing ethical and social issues related to the privacy and protection of healthcare data with effective balance. Developing multifunctional machine learning platforms for clinical data extraction, aggregation, management and analysis can support clinicians by efficiently stratifying subjects to understand specific scenarios and optimize decision-making. Implementation of artificial intelligence in healthcare is a compelling vision that has the potential in leading to the significant improvements for achieving the goals of providing real-time, better personalized and population medicine at lower costs. In this study, we focused on analyzing and discussing various published artificial intelligence and machine learning solutions, approaches and perspectives, aiming to advance academic solutions in paving the way for a new data-centric era of discovery in healthcare.

Project description:IntroductionThere is increasing interest in Artificial Intelligence (AI) and its application to medicine. Perceptions of AI are less well-known, notably amongst children and young people (CYP). This workshop investigates attitudes towards AI and its future applications in medicine and healthcare at a specialised paediatric hospital using practical design scenarios.MethodTwenty-one members of a Young Persons Advisory Group for research contributed to an engagement workshop to ascertain potential opportunities, apprehensions, and priorities.ResultsWhen presented as a selection of practical design scenarios, we found that CYP were more open to some applications of AI in healthcare than others. Human-centeredness, governance and trust emerged as early themes, with empathy and safety considered as important when introducing AI to healthcare. Educational workshops with practical examples using AI to help, but not replace humans were suggested to address issues, build trust, and effectively communicate about AI.ConclusionWhilst policy guidelines acknowledge the need to include children and young people to develop AI, this requires an enabling environment for human-centred AI involving children and young people with lived experiences of healthcare. Future research should focus on building consensus on enablers for an intelligent healthcare system designed for the next generation, which fundamentally, allows co-creation.ImpactChildren and young people (CYP) want to be included to share their insights about the development of research on the potential role of Artificial Intelligence (AI) in medicine and healthcare and are more open to some applications of AI than others. Whilst it is acknowledged that a research gap on involving and engaging CYP in developing AI policies exists, there is little in the way of pragmatic and practical guidance for healthcare staff on this topic. This requires research on enabling environments for ongoing digital cooperation to identify and prioritise unmet needs in the application and development of AI.

Dataset Information

On the Role of Artificial Intelligence in Genomics to Enhance Precision Medicine.

Publications

On the Role of Artificial Intelligence in Genomics to Enhance Precision Medicine.

Similar Datasets

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