Towards Clinical Bioinformatics: Advancing Genomic Medicine with Informatics Methods and Tools

P. Knaup; E. Ammenwerth; R. Brandner; B. Brigl; G. Fischer; S. Garde; E. Lang; R. Pilgram; F. Ruderich; R. Singer; A. C. Wolff; R. Haux; C. Kulikowski

doi:10.1055/s-0038-1633872

Methods of Information in Medicine, Table of Contents

Methods Inf Med 2004; 43(03): 302-307
DOI: 10.1055/s-0038-1633872

Original Article

Schattauer GmbH

Towards Clinical Bioinformatics: Advancing Genomic Medicine with Informatics Methods and Tools

Findings from the IMIA Yearbook of Medical Informatics 2004

P. Knaup

¹University of Heidelberg, Department of Medical Informatics, Heidelberg, Germany

,

E. Ammenwerth

²UMIT – University for Health Sciences, Medical Informatics and Technology, Innsbruck, Austria

,

R. Brandner

¹University of Heidelberg, Department of Medical Informatics, Heidelberg, Germany

,

B. Brigl

³University of Leipzig, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, Germany

,

G. Fischer

²UMIT – University for Health Sciences, Medical Informatics and Technology, Innsbruck, Austria

,

S. Garde

¹University of Heidelberg, Department of Medical Informatics, Heidelberg, Germany

,

E. Lang

⁴University of Applied Sciences Darmstadt, Information and Knowledge Management, Darmstadt, Germany

,

R. Pilgram

²UMIT – University for Health Sciences, Medical Informatics and Technology, Innsbruck, Austria

,

F. Ruderich

⁵University of Applied Sciences Heilbronn, Department of Medical Informatics, Heilbronn, Germany

,

R. Singer

⁵University of Applied Sciences Heilbronn, Department of Medical Informatics, Heilbronn, Germany

,

A. C. Wolff

¹University of Heidelberg, Department of Medical Informatics, Heidelberg, Germany

,

R. Haux

²UMIT – University for Health Sciences, Medical Informatics and Technology, Innsbruck, Austria

,

C. Kulikowski

⁶Rutgers University, Department of Computer Science, Piscataway, New Jersey, USA

› Author Affiliations

Abstract

Summary

Objectives: To summarize the challenges facing clinical applications in the light of growing research results in genomic medicine and bioinformatics.

Methods: Analysis of the contents of the Yearbook of Medical Informatics 2004 of the International Medical Informatics Association (IMIA).

Results: The Yearbook of Medical Informatics 2004 includes 32 articles selected from 22 peer-reviewed scientific journals. A special section on clinical bio-informatics highlights recent developments in this field. Several guest editors review the promises and limitations of available methods and resources from biomedical informatics that are relevant to clinical medicine. Integrated data and knowledge resources are generally regarded to be central and key issues for clinical bioinformatics. Further review papers deal with public health implications of bioinformatics, knowledge management and trends in health care education. The Yearbook includes for the first time a section on the history of medical informatics, where the significant impact of the Reisensburg protocol 1973 on international health and medical informatics education is examined.

Conclusions: Close collaboration between bio-informatics and medical informatics researchers can contribute to new insights in genomic medicine and contribute towards the more efficient and effective use of genomic data to advance clinical care.

Keywords

Medical informatics - International Medical Informatics Association - clinical bioinformatics - yearbook

Full Text

References

References
1 Lander ES, Linton LM, Birren B. et al. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
2 Venter JC, Adams MD, Myers EW. et al. The sequence of the human genome. Science 2001; 291: 1304-51.
3 Voit EO. Models-of-data and models-of-processes in the post-genomic era. Math Biosci 2002; 180: 263-74.
4 Maojo V, Martin-Sanchez F, Billhardt H, Iakovidis I, Kulikowski C. Establishing an agenda for biomedical informatics. Methods Inf Med 2003; 42: 121-5.
5 Friend SH. How DNA microarrays and expression profiling will affect clinical practice. BMJ 1999; 319: 1306-7.
6 Bodenreider O, Mitchell JA. Graphical visualization and navigation of genetic disease information. Proc AMIA Symp. 2003: 792
7 Kellam P, Holzerlandt R, Gramoustianou E, Jenner R, Kwan A. Viral bioinformatics: computational views of host and pathogen. Novartis Found Symp 2003; 254: 234-47. discussion 247-52
8 Kikuno R, Nagase T, Nakayama M, Koga H, Okazaki N, Nakajima D, Ohara O. HUGE: a database for human KIAA proteins, a 2004 update integrating HUGEppi and ROUGE. Nucleic Acids Res 2004; 32 Database issue D502-4.
9 Peri S. et al. Human protein reference database as a discovery resource for proteomics. Nucleic Acids Res 2004; 32 Database issue D497-501.
10 Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001; 285: 540-4.
11 Subramanian G, Adams MD, Venter JC, Broder S. Implications of the human genome for understanding human biology and medicine. JAMA 2001; 286: 2296-307.
12 Collins FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA 2001; 286: 2322-4.
13 McKusick VA. The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century. JAMA 2001; 286: 2289-95.
14 Kulikowski CA. The Micro-Macro Spectrum of Medical Informatics Challenges: From Molecular Medicine to Transforming Health Care in a Globalizing Society. Methods Inf Med 2002; 41: 20-4.
15 Martin-Sanchez F. et al. Synergy between medical informatics and bioinformatics: facilitating genomic medicine for future health care. J Biomed Inform 2004; 37: 30-42.
16 Warner GC, Reis PP, Makitie AA, Sukhai MA, Arora S, Jurisica I, Wells RA, Gullane P, Irish J, Kamel-Reid S. Current applications of microarrays in head and neck cancer research. Laryngoscope 2004; 114: 241-8.
17 Riva A, Kohane IS. A web-based tool to retrieve human genome polymorphisms from public databases. Proc AMIA Symp. 2001: 558-62.
18 Mitchell JA, McCray AT, Bodenreider O. From phenotype to genotype: issues in navigating the available information resources. Methods Inf Med 2003; 42: 557-63.
19 Crass T. et al. The Helmholtz Network for Bioinformatics: an integrative web portal for bioinformatics resources. Bioinformatics 2004; 20: 268-70.
20 Altman RB. The interactions between clinical informatics and bioinformatics: a case study. JAMIA 2000; 7: 439-43.
21 Kohane IS. Bioinformatics and clinical informatics: the imperative to collaborate. JAMIA 2000; 7: 512-6.
22 Miller PL. Opportunities at the intersection of bioinformatics and health informatics: a case study. JAMIA 2000; 7: 431-8.
23 McDonald CJ. Hickam 2000: the maturation of, and linkages between, medical informatics and bioinformatics. J Lab Clin Med 2001; 138: 359-66.
24 Maojo V, Kulikowski CA. Bioinformatics and medical informatics: collaborations on the road to genomic medicine?. JAMIA 2003; 10: 515-22.
25 van Bemmel JH, Mc Cray AT. IMIA Yearbook of Medical Informatics. Stuttgart: Schattauer. Annual appearance since 1992. Editors since 2001: Haux R, Kulikowski CA.
26 Ammenwerth E, Knaup P, Maier C, Mludek V, Singer R, Skonetzki S, Wolff AC, Haux R, Kulikowski C. Digital Libraries and Recent Medical Informatics Research – Findings from the IMIA Yearbook of Medical Informatics 2001. Methods Inf Med 2001; 40: 163-167.
27 Kulikowski C, Ammenwerth E, Bohne A, Ganser K, Haux R, Knaup P, Maier C, Michel A, Singer R, Wolff AC. Medical Imaging Informatics and Medical Informatics: opportunities and constraints. Findings from the IMIA yearbook of Medical Informatics 2002. Methods Inf Med 2002; 41: 183-9.
28 Ammenwerth E, Haux R, Kulikowski C, Bohne A, Brandner R, Brigl B, Fischer G, Garde S, Knaup P, Ruderich F, Schubert R, Singer R, Wolff AC. Medical informatics and the quality of health: new approaches to support patient care – findings from the IMIA Yearbook of Medical Informatics 2003. Methods Inf Med 2003; 42: 185-9.
29 Ammenwerth E, Wolff AC, Knaup P, Ulmer H, Skonetzki S, van Bemmel JH, Mc Cray AT, Haux R, Kulikowski C. Developing and Evaluating Criteria to Help Reviewers of Biomedical Informatics Manuscripts. JAMIA 2003; 10: 512-4.
30 Haux R, Kulikowski C. IMIA Yearbook of Medical Informatics. Stuttgart: Schattauer. Annual appearance since 1992. Editors since 2001: Haux R, Kulikowski CA.
31 Bates DW, Cohen M, Leape LL, Overhage JM, Shabot MM, Sheridan T. Reducing the Frequency of Errors in Medicine Using Information Technology. JAMIA 2001; 8: 299-308.
32 Ball MJ, Garets DE, Handler TJ. Leveraging IT to Improve Patient Safety. In Haux R, Kulikowski CA. IMIA Yearbook of Medical Informatics. Stuttgart: Schattauer; 2003: 153-158.
33 Hasman A, Safran C, Takeda H. Quality of health care: informatics foundations. Methods Inf Med 2003; 42: 509-18.
34 Pierre S. Mobile computing and ubiquitous networking: concepts, technologies and challenges. Telematics and Informatics 2001; 18: 109-31.
35 Kunze C, Grossmann U, Stork W, Muller-Glaser KD. Application of ubiquitous computing in personal health monitoring systems. Biomed Tech (Berl) 2002; 47 Suppl (Suppl. 01) Pt 1 360-2.