Cited by 200Machine Learning in HealthcareArtificial Intelligence in Healthcare and EducationArtificial Intelligence in Healthcare

Big data hurdles in precision medicine and precision public health

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Prosperi, Mattia, Min, Jae S., Bian, Jiang, Modave, François·2018·BMC Medical Informatics and Decision Making

Abstract

BACKGROUND: Nowadays, trendy research in biomedical sciences juxtaposes the term 'precision' to medicine and public health with companion words like big data, data science, and deep learning. Technological advancements permit the collection and merging of large heterogeneous datasets from different sources, from genome sequences to social media posts or from electronic health records to wearables. Additionally, complex algorithms supported by high-performance computing allow one to transform these large datasets into knowledge. Despite such progress, many barriers still exist against achieving precision medicine and precision public health interventions for the benefit of the individual and the population. MAIN BODY: The present work focuses on analyzing both the technical and societal hurdles related to the development of prediction models of health risks, diagnoses and outcomes from integrated biomedical databases. Methodological challenges that need to be addressed include improving semantics of study designs: medical record data are inherently biased, and even the most advanced deep learning's denoising autoencoders cannot overcome the bias if not handled a priori by design. Societal challenges to face include evaluation of ethically actionable risk factors at the individual and population level; for instance, usage of gender, race, or ethnicity as risk modifiers, not as biological variables, could be replaced by modifiable environmental proxies such as lifestyle and dietary habits, household income, or access to educational resources. CONCLUSIONS: Data science for precision medicine and public health warrants an informatics-oriented formalization of the study design and interoperability throughout all levels of the knowledge inference process, from the research semantics, to model development, and ultimately to implementation.

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  • Despite methodological, societal, and ethical concerns, big data methods are being broadly adopted in healthcare systems for evidence-based clinical decision-making.

    “Despite methodological, societal, and ethical concerns (12), big data methods are being broadly adopted in healthcare systems for evidence-based clinical decision-making.”

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Authors
Prosperi, M., Min, J. S., Bian, J., & Modave, F.
Affiliations
University of Florida Health (US)
Corresponding author
Prosperi, Mattia
Venue
BMC Medical Informatics and Decision Making
Published
2018-12
Volume
18
Issue
1
Pages
139-139
ISSN
1472-6947 (ISSN-L)
OpenAlex
W2906694199
Cited by
200
References
105
Citations by year
2026: 9 · 2025: 30 · 2024: 28 · 2023: 31 · 2022: 23 · 2021: 34 · 2020: 33 · 2019: 12
FWCI
11.26
Type
journal article
Language
en
Open access
Locations
  • BMC Medical Informatics and Decision Making (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, other-oa)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • University of Florida Digital Collections (University of Florida) (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • National Center for Advancing Translational Sciences (UL1TR001427)
  • Florida Department of Health (4KB16)
  • Patient-Centered Outcomes Research Institute (CDRN-1501- 26692)
  • Horizon 2020 Framework Programme (H2020-PHC-2014 #634650)
Topics
  • Physical Sciences › Computer Science › Artificial Intelligence › Machine Learning in Healthcare
  • Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
  • Health Sciences › Health Professions › Health Information Management › Artificial Intelligence in Healthcare
Keywords
precision medicine, precision public health, big data, electronic health records, data bias, denoising autoencoder, modifiable risk factors, interoperability, data science
MeSH terms
Big Data, Algorithms, Delivery of Health Care, Humans, Public Health, Databases, Factual, Precision Medicine, Electronic Health Records, Social Media

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