With the human genome project running from 1989 until its completion in 2003, and the incredible advances in sequencing technology and in bioinformatics during the last decade, there has been a shift towards an increase focus on studying common complex disorders which develop due to the interplay of many different genes as well as environmental factors. Although some susceptibility genes have been identified in some populations for disorders such as cancer, diabetes and cardiovascular diseases, the integration of this information into the health care system has proven to be much more problematic than for single gene disorders. Furthermore, with the 1000$ genome supposedly just around the corner, and whole genome sequencing gradually being integrated into research protocols as well as in the clinical context, there is a strong push for the uptake of additional genomic testing. Indeed, the advent of public health genomics, wherein genomics would be integrated in all aspects of health care and public health, should be taken seriously. Although laudable, these advances also bring with them a slew of ethical and social issues that challenge the normative frameworks used in clinical genetics until now. With this in mind, we highlight herein 5 principles that are used as a primer to discuss the ethical introduction of genome-based information and genome-based technologies into public health.

1.
Rogowski WH, Grosse SD, Khoury MJ: Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet 2009;10:489-495.
2.
Davey Smith G, Ebrahim S, Lewis S, Hansell AL, Palmer LJ, Burton PR: Genetic epidemiology and public health: hope, hype, and future prospects. Lancet 2005;366:1484-1498.
3.
Lock M, Freeman J, Chilibeck G, Beveridge B, Padolsky M: Susceptibility genes and the question of embodied identity. Med Anthropol Q 2007;21:256-276.
4.
Rosenkotter N, Vondeling H, Blancquaert I, Mekel OC, Kristensen FB, Brand A: The contribution of health technology assessment, health needs assessment, and health impact assessment to the assessment and translation of technologies in the field of public health genomics. Public Health Genomics 2010;14:43-52.
5.
Teutsch SM, Bradley LA, Palomaki GE, Haddow JE, Piper M, Calonge N, Dotson WD, Douglas MP, Berg AO; EGAPP Working Group: The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP working group. Genet Med 2009;11:3-14.
6.
Bellagio Meeting Group: Genome-based research and population health. Report of an expert workshop held at the Rockefeller Foundation Study and Conference Centre, Bellagio, April 2005.
7.
Centers for Disease Control and Prevention, 2011. http://www.Cdc.Gov/genomics/.
8.
Genome-based Research and Population Health International Network (GRaPH-Int): Graph-int. http://www.Graphint.Org/ver2/index.Cfm (accessed September, 2011).
10.
Public Health Genomics - Belgian Task Force: How to correctly introduce genome-based knowledge in the Belgian health care service. Brussels, Belgium, 2010.
11.
Public Health Genomics European Network. 2011. http://www.phgen.eu/typo3/index.php.
12.
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.
13.
Arar N, Knight SJ, Modell SM, Issa AM; Group fGIKSDW: The genome-based knowledge management in cycles model: a complex adaptive systems framework for implementation of genomic applications. Pers Med 2011;8:191-205.
14.
UK National Screening Committee: Programme appraisal criteria: Criteria for appraising the viability, effectiveness and appropriateness of a screening programme. http://www.Screening.Nhs.Uk/criteria/ (accessed July 5, 2012).
15.
Andermann A, Blancquaert I, Déry V: Genetic screening: a conceptual framework for programmes and policy-making. J Health Serv Res Policy 2010;15:90-97.
16.
European Society of Human Genetics: Population genetic screening programmes: Technical, social and ethical issues. Eur J Hum Genet 2003;11(suppl 2):S5-S7.
17.
Health Council of the Netherlands: Screening: Between hope and hype. The Hague, 2008.
18.
Centre for Disease Control: Genomic testing: ACCE model process for evaluating genetic tests, 2010.
19.
UK National Screening Committee: Criteria for appraising the viability, effectiveness and appropriateness of a screening programme. 2003.
20.
Clayton EW: Currents in contemporary ethics. State run newborn screening in the genomic era, or how to avoid drowning when drinking from a fire hose. J Law Med Ethics 2010;38:697-700.
21.
Zimran A, Zaizov R, Zlotogora J: Large scale screening for Gaucher's disease in Israel-a position paper by the National Gaucher Committee of the Ministry of Health [in Hebrew]. Harefuah 1997;133:107-108.
22.
Zuckerman S, Lahad A, Shmueli A, Zimran A, Peleg L, Orr-Urtreger A, Levy-Lahad E, Sagi M: Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA 2007;298:1281-1290.
23.
Borry P, Clarke A, Dierickx K: Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions. Eur J Hum Genet 2008;16:139-140.
24.
Raz AE: Eugenic utopias/dystopias, reprogenetics, and community genetics. Sociol Health Illn 2009;31:602-616.
25.
Grosse SD, Khoury MJ: What is the clinical utility of genetic testing? Genet Med 2006;8:448-450.
26.
Foster MW, Mulvihill JJ, Sharp RR: Evaluating the utility of personal genomic information. Genet Med 2009;11:570-574.
27.
Brand A: Public health genomics-public health goes personalized. Eur J Public Health 2011;21:2-3.
28.
Cesuroglu T, van Ommen B, Malats N, Sudbrak R, Lehrach H, Brand A: Public health perspective: from personalized medicine to personal health. Pers Med 2012;9:115-119.
29.
Burke W, Laberge AM, Press N: Debating clinical utility. Public Health Genomics 2010;13:215-223.
30.
Beauchamp TW, Walters L, Kahn JP, Mastroianni AC: Contemporary Issues in Bioethics. Belmont, Wadsworth Publishing Company, 1999.
31.
Krantz I, Sachs L, Nilstun T: Ethics and vaccination. Scand J Public Health 2004;32:172-178.
32.
Syurina EV, Brankovic I, Probst-Hensch N, Brand A: Genome-based health literacy: a new challenge for public health genomics. Public Health Genomics 2011;14:201-210.
33.
Sorensen K, Brand H: Health literacy: the essential catalyst for the responsible and effective translation of genome-based information for the benefit of population health. Public Health Genomics 2011;14:195-200.
34.
Brouwer W. The basis of the benefit package (De basis van het pakket). Inaugural Address, Erasmus University Rotterdam, the Netherlands, December 4th 2009 (in Dutch).
35.
Claxton KP, Sculpher MJ: Using value of information analysis to prioritise health research: some lessons from recent UK experience. Pharmacoeconomics 2006;24:1055-1068.
36.
Carlson JJ, Henrikson NB, Veenstra DL, Ramsey SD: Economic analyses of human genetics services: a systematic review. Genet Med 2005;7:519-523.
37.
Djalalov S, Musa Z, Mendelson M, Siminovitch K, Hoch J: A review of economic evaluations of genetic testing services and interventions (2004-2009). Genet Med 2011;13:89-94.
38.
European Commission Directorate-General for Research: 25 recommendations on the ethical, legal and social implications of genetic testing, 2004. http://ec.europa.eu/research/conferences/2004/genetic/pdf/recommendations_en.pdf.
39.
ten Have M, de Beaufort ID, Mackenbach JP, van der Heide A: An overview of ethical frameworks in public health: can they be supportive in the evaluation of programs to prevent overweight? BMC Public Health 2010;10:638.
40.
Khoury MJ: Public health genomics: the end of the beginning. Genet Med 2011;13:206-209.
41.
van El CG, Cornel MC; ESHG Public and Professional Policy Committee: Genetic testing and common disorders in a public health framework. Eur J Hum Genet 2011;19:377-381.
42.
Hall WD, Mathews R, Morley KI: Being more realistic about the public health impact of genomic medicine. PLoS Med 2010;7:pii e1000347.
43.
Burke W, Burton H, Hall AE, Karmali M, Khoury MJ, Knoppers B, Meslin EM, Stanley F, Wright CF, Zimmern RL: Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and ‘personalized' medicine? Genet Med 2010;12:785-791.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.