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Future relevance of genetic testing: A systematic horizon scanning analysis

Published online by Cambridge University Press:  01 October 2007

Philipp Storz ,
Kai Kolpatzik ,
Matthias Perleth ,
Silvia Klein  and
Bertram Häussler
Philipp Storz
Affiliation:
IGES (Institute for Health and Social Research)
Kai Kolpatzik
Affiliation:
Federal Association of the Local Health Insurance Funds
Matthias Perleth
Affiliation:
Federal Joint Committee/G-BA
Silvia Klein
Affiliation:
IGES (Institute for Health and Social Research)
Bertram Häussler
Affiliation:
Technische Universität Berlin and IGES (Institute for Health and Social Research)
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Abstract

Objectives: The aim of this study was to identify research and development on genetic testing to find out if research addresses important disease areas, how far it is from potential clinical use, and what consequences might arise for the prioritization of health technology assessment (HTA) activities. Also a horizon scanning methodology developed in Germany is demonstrated.

Methods: A systematic search on genetic testing was conducted in an innovation database (ZIM database). Based on a daily monitoring of literature and Internet sources, reports from 2003 up to 2005 were classified related to the type of innovation, the addressed disease categories, and the developmental phase of the technology. More detailed analyses for the most frequently addressed groups of diseases were conducted.

Results: From 239 relevant reports, 41 percent referred to neoplasms; 10 percent to diseases of the cardiovascular system; 9 percent to diseases of the nervous system; 7 percent to mental and behavioral disorders; and 5 percent to endocrine, nutritional, and metabolic diseases. A total of 69 percent of research is situated in basic preclinical research, 22 percent in clinical/experimental research, and 6 percent are genetic tests being used. Diagnostic applications were most frequently reported (28 percent), followed by therapeutic prediction (22 percent), preventive prediction (18 percent), pharmacogenetics (16 percent), and screening (16 percent).

Conclusions: Widespread diseases are frequently addressed in research. HTA on genetic testing might focus on innovations addressing neoplastic diseases (in particular breast, colon, and prostate cancers) and pharmacogenetic applications for therapeutic prediction. The horizon scanning approach seems useful in the early steps of HTA processes to identify emerging new technologies that might have significant impact on future health care.

Keywords

Biomedical technology assessmentGenetic techniquesBibliographic databasesResearch priorities
Type
GENERAL ESSAYS
Information
International Journal of Technology Assessment in Health Care , Volume 23 , Issue 4 , October 2007 , pp. 495 - 504
Copyright
Copyright © Cambridge University Press 2007

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