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Future relevance of genetic testing: A systematic horizon scanning analysis

  • Philipp Storz (a1), Kai Kolpatzik (a2), Matthias Perleth (a3), Silvia Klein (a1) and Bertram Häussler (a4)...

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.

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1. IT Brown , A Smale , V Momandwall , S Momandwall . Medical technology horizon scanning. Australas Phys Eng Sci Med. 2005;28:200203.

2. FS Collins , ED Green , AE Guttmacher , MS Guyer . A vision for the future of genomics research. A blueprint for the genomic era. Nature. 2003;422:835847.

3. K Douw , H Vondeling , D Eskildsen , S Simpson . Use of the internet in scanning the horizon for new and emerging health technologies: A survey of agencies involved in horizon scanning. J Med Internet Res. 2003;5:e6.

4. K Douw , H Vondeling , W Oortwijn . Priority setting for horizon scanning of new health technologies in Denmark: Views of health care stakeholders and health economists. Health Policy. 2006;76:334345.

7. A Evans , GC Van Baal , P McCarron , et al. The genetics of coronary heart disease: The contribution of twin studies. Twin Res. 2003;6:432441.

9. M Giacomini , F Miller , G Browman . Confronting the “gray zones” of technology assessment: Evaluating genetic testing services for public insurance coverage in Canada. Int J Technol Assess Health Care. 2003;19:301316.

10. WD Hall , KI Morley , JC Lucke . The prediction of disease risk in genomic medicine. Scientific prospects an implications for public policy and ethics. EMBO Rep. 2004;5:S22-S26.

13. L Mundy , TL Merlin , A Parrella . The Australia and New Zealand horizon scanning network. Aust Health Rev. 2005;29:395397.

17. J Van Delden , I Bold , A Kalis , J Derijks , H Leufkens . Tailor-made pharmacotherapy: Future developments and ethical challenges in the field of pharmacogenomics. Bioethics. 2004;18:303321.

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International Journal of Technology Assessment in Health Care
  • ISSN: 0266-4623
  • EISSN: 1471-6348
  • URL: /core/journals/international-journal-of-technology-assessment-in-health-care
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