Document Detail


Using biointelligence to search the cancer genome: an epistemological perspective on knowledge recovery strategies to enable precision medical genomics.
MedLine Citation:
PMID:  19956181     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Genomic profiling is beginning to extend beyond the many applications in discovery research toward direct medical applications that hold the promise of more precise and individualized health-care delivery. There are many barriers and challenges that still need to be overcome before 'Precision Medical Genomics' can deliver the promise of more informed patient care, not the least of which is the unmet need for a new conceptual framework for recovering, understanding and translating potentially useful information from a single genome. Although a wide spectrum of scientific strategies, bioinformatic approaches, IT tools and knowledge resources have been developed to support discovery research, the interpretive requirements for recovering clinically useful insights from an individual's genome are different in many ways from those of traditional research goals. In this study, we compare and contrast the fundamental conceptual differences that distinguish 'research' to discover generalized knowledge from 'search' to recover individualized knowledge. We also consider the merits of applying evidence-based medicine and traditional scientific methods when n=1, and consider an alternative perspective based on a translational engineering approach and intelligence for interpreting genomic information from an individual case. Although the general idea of biological intelligence-based knowledge recovery that we introduce here can be broadly applied for personal genomics across many indications in medicine, we make a case that the need for adopting such a paradigm is greatest for supporting the management of complex diseases, and particularly suited for supporting therapeutic decisions in medical oncology. Early concepts for designing and implementing this kind of 'BioIntelligence' solution will be discussed. We also review the anticipated challenges of implementing genomic analysis and biological intelligence-based solutions in the practice of medical oncology by discussing some of the related pragmatic considerations for deploying the first generation of a 'Precision Medical Genomics' solution that can evolve and improve over time.
Authors:
S Mousses; J Kiefer; D Von Hoff; J Trent
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Oncogene     Volume:  27 Suppl 2     ISSN:  1476-5594     ISO Abbreviation:  Oncogene     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2009-12-03     Completed Date:  2010-02-03     Revised Date:  2012-06-08    
Medline Journal Info:
Nlm Unique ID:  8711562     Medline TA:  Oncogene     Country:  England    
Other Details:
Languages:  eng     Pagination:  S58-66     Citation Subset:  IM    
Affiliation:
Translational Genomics Research Institute, Phoenix, AZ, USA.
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MeSH Terms
Descriptor/Qualifier:
Biomedical Research / methods*
Evidence-Based Medicine
Genetics, Medical / methods
Genome, Human / genetics
Genomics / methods*
Humans
Medical Informatics / methods*
Medical Oncology / methods
Neoplasms / diagnosis,  genetics*,  therapy
Pharmacogenetics / methods
Grant Support
ID/Acronym/Agency:
P01 CA109552/CA/NCI NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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