The European Union has named genomics as one of the promising research fields for the development of new health technologies. Major concerns with regard to these fields are, on the one hand, the rather slow and limited translation of new knowledge and, on the other hand, missing insights into the impact on public health and health care practice of those technologies that are actually introduced. This paper aims to give an overview of the major assessment instruments in public health [health technology assessment (HTA), health needs assessment (HNA) and health impact assessment (HIA)] which could contribute to the systematic translation and assessment of genomic health applications by focussing at population level and on public health policy making. It is shown to what extent HTA, HNA and HIA contribute to translational research by using the continuum of translational research (T1–T4) in genomic medicine as an analytic framework. The selected assessment methodologies predominantly cover 2 to 4 phases within the T1–T4 system. HTA delivers the most complete set of methodologies when assessing health applications. HNA can be used to prioritize areas where genomic health applications are needed or to identify infrastructural needs. HIA delivers information on the impact of technologies in a wider scope and promotes informed decision making. HTA, HNA and HIA provide a partly overlapping and partly unique set of methodologies and infrastructure for the translation and assessment of genomic health applications. They are broad in scope and go beyond the continuum of T1–T4 translational research regarding policy translation.

1.
Commission of the European Communities: Together for Health: A Strategic Approach for the EU 2008–2013. Commission of the European Communities, Brussels, October 2007.
2.
Pearson TA, Manolio TA: How to interpret a genome-wide association study. JAMA 2008;299:1335–1344.
3.
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN: Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008;9:356–369.
4.
Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L: The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med 2007;9:665–674.
5.
Khoury MJ, Little J, Burke W: Human Genome Epidemiology: Scope and Strategies. New York, Oxford University Press, 2004.
6.
Woolf SH: The meaning of translational research and why it matters. JAMA 2008;299:211–213.
7.
Goddard KA, Robitaille J, Dowling NF, Parrado AR, Fishman J, Bradley LA, Moore CA, Khoury MJ: Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of throm- bosis. Public Health Genomics 2009;12:92–104.
8.
Gurwitz D, Bregman-Eschet Y: Personal genomics services: whose genomes? Eur J Hum Genet 2009;17:883–889.
9.
Brand A: Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today. Eur J Hum Genet 2009;17:977–978.
10.
Burke W, Khoury MJ, Stewart A, Zimmern RL: The path from genome-based research to population health: development of an international public health genomics network. Genet Med 2006;8:451–458.
11.
Burke W: Challenges in genetic test evaluation: Clinical Validity and Clinical Utility; in Kroese M, Elles R, Zimmern RL (eds): The Evaluation of Clinical Validity and Clinical Utility of Genetic Tests – Summary of an Expert Workshop. PHGFoundation, September 2007.
12.
Battista RN: Towards a paradigm for technology assessment; in Peckham M, Smith R (eds): The Scientific Basis of Health Services. London, BMJ publishing Group, 1996, pp 11–18.
13.
European Network of Health Technology Assessment (EUnetHTA): HTA. 2008. http://www.eunethta.net/Public/About_EUnetHTA/HTA.
14.
Goodman C; The Lewine Group: ‘HTA 101’ Introduction to Health Technology Assessment. National Library of Medicine, National Institutes of Health, 2004.
15.
Banta HD, Luce BL: Health care technology and its assessment. An international perspective. Oxford, New York, Oxford University Press, 1993.
16.
Rogers EM: Diffusion of Innovations, ed 5. New York, Free Press, 2005.
17.
Garrido MV, Kristensen FB, Nielsen CP, Busse R: Health Technology Assessment and Health Policy Making – Current status, challenges and potential. World Health Organization on behalf the European Observatory on Health Systems and Policies, Copenhagen, 2008.
18.
Robert G, Stevens A, Gabbay J: ‘Early warning systems’ for identifying new healthcare technologies. Health Technol Assess 1999;3:1–108.
19.
EuroScan: The European Information Network on New and Changing health Technologies. About EuroScan. http://www.euroscan.org.uk/about.
20.
Storz P, Kolpatzik K, Perleth M, Klein S, Haussler B: Future relevance of genetic testing: a systematic horizon scanning analysis. Int J Technol Assess Health Care 2007;23:495–504.
21.
Kristensen FB, Sigmund H (eds): Health Technology Assessment Handbook. Copenhagen, National Board of Health, 2008. http://www.sst.dk/publ/Publ2008/MTV/Metode/HTA_Handbook_net_final.pdf.
22.
Giacomini M, Miller F, Browman G: Confronting the ‘gray zones’ of technology assessment: evaluating genetic testing services for public insurance coverage in Canada. Int J Technol Assess Health Care 2003;19:301–316.
23.
Blancquaert I: Managing partnerships and impact on decision-making: the example of health technology assessment in genetics. Community Genet 2006;9:27–33.
24.
Blancquaert I, Bouchard L, Chikhaoui Y, Cleret de Langavant G: Molecular Genetics viewed from the Health Technology Assessment Perspective. 10th International Congress of Human Genetics, Vienna, May 2001.
25.
Blancquaert I: Testing for BRCA: the Canadian experience; in Kroese M, Elles R, Zimmern RL (eds): The Evaluation of Clinical Validity and Clinical Utility of Genetic Tests – Summary of an Expert Workshop. PHGFoundation, September 2007.
26.
Douma KF, Karsenberg K, Hummel MJ, Bueno-de-Mesquita JM, van Harten WH: Methodology of constructive technology assessment in health care. Int J Technol Assess Health Care 2007;23:162–168.
27.
Achterbergh R, Lakeman P, Stemerding D, Moors EH, Cornel MC: Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: a sociotechnical analysis. Health Policy 2007;83:277–286.
28.
Stevens A, Gillam S: The development of practical approaches to health needs assessment; in Wright J (ed): Health Needs in Practice. London, BMJ Books, 1998, p 23.
29.
Wright J, Williams R, Wilkinson JR: Development and importance of health needs assessment. BMJ 1998;316:1310–1313.
30.
Health Development Agency: Health Needs Assessment – A Practical Guide. London, Health Development Agency, 2005.
31.
Gray J: Evidence-Based Healthcare. How to Make Health Policy and Management Decisions. New York, Churchill Livingstone, 1997.
32.
Pallant J: Health Needs Assessment Toolkit. Mid Hampshire, National Health Service, 2002.
33.
Health Development Agency: Clarifying approaches to: health needs assessment, health impact assessment, integrated impact assessment, health equity audit, and race equality impact assessment. London, Health Development Agency, 2005.
34.
European Parliament: The Treaty of Amsterdam: Article 152. EC, 1999.
35.
WHO, European Centre for Health Policy: Gothenburg Consensus Paper. Health Impact Assessment: main concepts and suggested approach. WHO, European Centre for Health Policy, December 1999.
36.
Stahl T, Wismar M, Ollila E, Lahtinen E, Leppo K: Health in all policies. Prospects and potentials. Finland, Ministry of Social Affairs and Health, 2006.
37.
Dahlgren G, Whitehead M: Policies and strategies to promote equity in health. Copenhagen, WHO Regional Office for Europe, 1992.
38.
Wismar M, Blau J, Ernst K, Figueras J (eds): European Observatory on Health Systems and Policies. The Effectiveness of Health Impact Assessment. Scope and limitations of supporting decision-making in Europe. Copenhagen, 2007.
39.
Kemm J, Parry J, Palmer S: Health Impact Assessment. Oxford, Oxford University Press, 2004.
40.
Burke W, Zimmern RL: Ensuring the appropriate use of genetic tests. Nat Rev Genet 2004;5:955–959.
41.
Parry J, Stevens A: Prospective health impact assessment: pitfalls, problems, and possible ways forward. BMJ 2001;323:1177–1182.
42.
Retel VP, Bueno-de-Mesquita JM, Hummel MJ, van de Vijver MJ, Douma KF, Karsenberg K, van Dam FS, van Krimpen C, Bellot FE, Roumen RM, Linn SC, van Harten WH: Constructive Technology Assessment (CTA) as a tool in coverage with evidence development: the case of the 70-gene prognosis signature for breast cancer diagnostics. Int J Technol Assess Health Care 2009;25:73–83.
43.
Khoury MJ, Burke W, Thomson E: Genetics and Public Health: A Framework for the Integration of Human Genetics into Public Health Practice. Oxford, New York, Oxford University Press, 2000.
44.
Burton H, Adams M, Bunton R, Schroder-Back P: Developing stakeholder involvement for introducing Public Health Genomics into Public Policy. Public Health Genomics 2009;12:11–19.
45.
Douw K, Vondeling H: Selection of new health technologies for assessment aimed at informing decision making: a survey among horizon scanning systems. Int J Technol Assess Health Care 2006;22:177–183.
46.
Ehlers L, Vestergaard M, Kidholm K, Bonnevie B, Pedersen PH, Jorgensen T, Jensen MF, Kristensen FB, Kjolby M: Doing mini-health technology assessments in hospitals: a new concept of decision support in health care? Int J Technol Assess Health Care 2006;22:295–301.
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