Concepts for the translation of genome-based innovations into public health: A comprehensive overview

Personalized Medicine

Volumn 10, Issue 2, 2013, Pages 163-176

  Syurina, Elena V ^a   Schulte In Den Bäumen, Tobias ^a   Brand, Angela ^a   Ambrosino, Elena ^a   Feron, Frans J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

methodologies; population health; Public Health Genomics; translational research

Indexed keywords

DESCRIPTIVE RESEARCH; GENOME ANALYSIS; HEALTH CARE PRACTICE; HUMAN; MEDICAL SPECIALIST; PRIORITY JOURNAL; PUBLIC HEALTH; REVIEW; TRANSLATIONAL RESEARCH;

EID: 84874634650     PISSN: 17410541     EISSN: 1744828X     Source Type: Journal    
DOI: 10.2217/pme.13.5     Document Type: Review

References (41)

1. Westfall JM, Mold J, Fagnan L. Practice-based research-"blue highways" on the NIH Roadmap. JAMA 297(4), 403-406 (2007).
2. Contopoulos-Ioannidis DG, Alexiou GA, Gouvias TC, Ioannidis JPA. Medicine: life cycle of translational research for medical interventions. Science 321(5894), 1298-1299 (2008).
3. Beskow LM, Khoury MJ, Baker TG, Thrasher JF. The integration of genomics into public health research, policy and practice in the United States. Community Genet. 4(1), 2-11 (2001).
4. Burke W, Khoury MJ, Stewart A, Zimmern RL; Bellagio Group. The path from genome-based research to population health: development of an international public health genomics network. Genet. Med. 8(7), 451-458 (2006).
5. Carpenter KH, Wiley V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin. Chim. Acta 322(1-2), 1-10 (2002).
6. Copeland S. A review of newborn screening in the era of tandem mass spectrometry: what's new for the pediatric neurologist? Semin. Pediatr. Neurol. 15(3), 110-116 (2008).
7. Seib KL, Dougan G, Rappuoli R. The key role of genomics in modern vaccine and drug design for emerging infectious diseases. PLoS Genetics 5(10), e1000612 (2009).
8. Rychetnik L, Frommer M, Hawe P, Shiell A. Criteria for evaluating evidence on public health interventions. J. Epidemiol. Community Health 56(2), 119-127 (2002).
9. Strauss A, Corbin JM. Basics of the Qualitative Research: Techniques and Procedures For Developing Grounded Theory. SAGE Publications, Inc., CA, USA (1990).
10. Graham ID, Logan J, Harrison MB et al. Lost in knowledge translation: time for a map? J. Contin. Educ. Health Prof. 26(1), 13-24 (2006).
11. Haddow JE, Palomaki GE. ACCE: a Model Process for Evaluating Data on Emerging Genetic Tests. In: Human Genome Epidemiology: a Scientific Foundation for Using Genetic Information to Improve Health and Prevent Diseases. Khoury M, Little J, Burke W (Eds). Oxford University Press, NY, USA, 217-233 (2003).
12. Zimmern RL, Kroese M. The evaluation of genetic tests. J. Public Health (Oxf.) 29(3), 246-250 (2007).
13. Gudgeon JM, McClain MR, Palomaki GE, Williams MS. Rapid ACCE: experience with a rapid and structured approach for evaluating gene-based testing. Genet. Med. 9(7), 473-478 (2007).
14. Lunshof JE, Chadwick R, Vorhaus DB, Church GM. From genetic privacy to open consent. Nat. Rev. Genet. 9(5), 406-411 (2008).
15. Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet. Med. 7(7), 495-500 (2005).
16. Teutsch SM, Bradley LA, Palomaki GE et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group. Genet. Med. 11(1), 3-14 (2009).
17. Berg AO. The CDC's EGAPP initiative: evaluating the clinical evidence for genetic tests. Am. Fam. Physician 80(11), 1218 (2009).
18. Mvundura M, Grosse SD, Hampel H, Palomaki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet. Med. 12(2), 93-104 (2009).
19. Rosenkoetter 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 14(1), 43-52 (2011).
20. Stevens A, Gillam S. Needs assessment: from theory to practice. BMJ 316(7142), 1448-1452 (1998).
21. Wright J, Williams R, Wilkinson JR. Development and importance of Health Needs Assessment. BMJ 316(7140), 1310-1313 (1998).
22. Elliott H, Popay J. How are policy makers using evidence? Models of research utilisation and local NHS policy making. J. Epidemiol. Community Health 54(6), 461-468 (2000).
23. Ginsburg GS. Genomic medicine: 'grand challenges' in the translation of genomics to human health. Eur. J. Hum. Genet. 16(8), 873-874 (2008).
24. Prainsack B, Reardon J, Hindmarsh R, Gottweis H, Naue U, Lunshof JE. Personal genomes: misdirected precaution. Nature 456(7218), 34-35 (2008).
25. Blancquaert I. Managing partnerships and impact on decision-making: the example of Health Technology Assessment in genetics. Community Genet. 9(1), 27-33 (2006).
26. Bassett K, Lee P, Green C, Mitchell L, Kazanjian A. Improving population health or the population itself? Health Technology Assessment and our genetic future. Int. J. Technol. Assess. Health Care 20(2), 106-114 (2004).
27. Little J, Potter B, Allanson J, Caulfield T, Carroll JC, Wilson B. Canada: public health genomics. Public Health Genomics 12(2), 112-120 (2009).
28. Becla L, Lunshof JE, Gurwitz D et al. Health Technology Assessment in the era of personalized health care. Int. J. Technol. Assess. Health Care 27(2), 118-126 (2011).
29. Battista RN. Expanding the scientific basis of Health Technology Assessment: a research agenda for the next decade. Int. J. Technol. Assess. Health Care 22(3), 275-280; discussion 280-272 (2006).
30. Brand A, Schulte T, Probst-Hensch NM. Biobanking for Public Health. In: Trust in Biobanking. Springer, 33, 3-20 (2012).
31. Evans JP, Dale DC, Fomous C. Preparing for a consumer-driven genomic age. N. Engl. J. Med. 363(12), 1099-1103 (2010).
32. European Observatory on Health Systems and Policies. The Effectiveness of Health Impact Assessment: Scope and Limitations of Supporting Decision-Making in Europe (Euro Nonserial Publication). Wismar M (Ed.). WHO, Geneva, Switzerland (2007).
33. Institute of Medicine. The future of public health. National Academy Press, Washington, DC, USA (1988).
34. Beskow LM, Khoury MJ, Baker TG, Thrasher JF. The integration of genomics into public health research, policy and practice in the United States. Community Genet. 4(1), 2-11 (2001).
35. Khoury MJ, Clauser SB, Freedman AN et al. Population sciences, translational research, and the opportunities and challenges for genomics to reduce the burden of cancer in the 21st century. Cancer Epidemiol. Biomarkers Prev. 20(10), 2105-2114 (2011).
36. Woolf SH. The meaning of translational research and why it matters. JAMA 299(2), 211-213 (2008).
37. Khoury MJ, Gwinn M, Ioannidis JP. The emergence of translational epidemiology: from scientific discovery to population health impact. Am. J. Epidemiol. 172(5), 517-524 (2010).
38. Hiatt RA. Invited commentary: the epicenter of translational science. Am. J. Epidemiol. 172(5), 525-527; discussion 528-529 (2010).
39. Brand A, Brand H, Schulte in den Baumen T. The impact of genetics and genomics on public health. Eur. J. Hum. Genet. 16(1), 5-13 (2007).
40. Morre SA, Ouburg S, Pena AS, Brand A. The EU FP6 EpiGenChlamydia Consortium: contribution of molecular epidemiology and host-pathogen genomics to understanding Chlamydia trachomatis-related disease. Drugs Today (Barc.) 45(Suppl. B), 7-13 (2009).
41. Damschroder L, Aron D, Keith RE, Kirsh SR, Alexander JA, Lowery JC. Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science. Implement. Sci. 4, 50 (2009).