Introduction of international evaluation process of genetic testing technology_Chinese Journal of Evidence-Based Medicine

Authors：

ZHANG Fan ^1,2 , CHEN Chen ³ , ZHAO Kun ^1,2 ,  LIU Yuehua ^1,2

1. China National Health Development Research Center, Beijing, 100191, P.R.China;
2. National Center for Drug and Technology Assessment, Beijing, 100191, P.R.China;
3. School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, 211198, P.R.China;

Corresponding author：

LIU Yuehua, Email: liu_yuehua@163.com

Keywords：

Genetic testing; HTA; Evaluation method

DOI：

10.7507/1672-2531.201909128

Video：

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Objectives To provide a reference for the evaluation procedures of genetic testing technology applicable to China by combining the existing evaluation frameworks and procedures for genetic testing techniques globally, and also put forward design suggestions for the construction of evaluation procedures in China.Methods The literature research method was primarily used to summarize different evaluation progress, as well as put forward design suggestions.Results At present, numerous developed countries have organized genetic testing technology evaluation projects. The various evaluation frameworks developed were based on the ACCE or HTA framework. The evaluation and decision-making procedures were similar in general, including topic selection, evaluation implementation, results reporting and making recommendations. However, there still remained difficulties such as limited evidence and uncertainty in decision-making.Conclusions To establish the procedures of genetic testing technology applicable in China, the following specific procedures are recommended: selecting target genetic testing technology topics; analyzing necessity and feasibility of target testing technology evaluation; evaluating and reviewing the evidence; applying results and decision-making transformation; developing regular review and revision mechanisms.

Citation： ZHANG Fan, CHEN Chen, ZHAO Kun, LIU Yuehua. Introduction of international evaluation process of genetic testing technology. Chinese Journal of Evidence-Based Medicine, 2020, 20(1): 7-12. doi: 10.7507/1672-2531.201909128 Copy

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1. House TW. The precision medicine initiative 2015. Available at: https://obamawhitehouse.archives.gov/precision-medicine.
2. 吴思竹, 钱庆, 杨林. 中国、美国、英国精准医学计划比较研究. 中国医院管理, 2017, 37(9): 77-80.
3. 焦怡琳, 王吉春, 张群, 等. 中国在精准医学领域面临的机遇与挑战. 中国公共卫生管理, 2015, 31(5): 601-603.
4. Verbelen M, Weale ME, Lewis CM. Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet? Pharmacogenomics J, 2017, 17(5): 395-402.
5. Daly AK. Pharmacogenetics: a general review on progress to date. Br Med Bull, 2017, 124(1): 65-79.
6. Gross T, Daniel J. Overview of pharmacogenomic testing in clinical practice. Ment Health Clin, 2018, 8(5): 235-241.
7. Caudle KE, Keeling NJ, Klein TE, et al. Standardization can accelerate the adoption of pharmacogenomics: current status and the path forward. Pharmacogenomics, 2018, 19(10): 847-860.
8. 健康界. 国家卫健委, 医保局共识: 将卫生技术评估用于医保准入. Available at: https://www.cn-healthcare.com/article/20181130/content-511652.html.
9. Pitini E, De Vito C, Marzuillo C, et al. How is genetic testing evaluated? A systematic review of the literature. Eur J Hum Genet, 2018, 26(5): 605-615.
10. Haddow JE, Palomaki GE. ACCE: a model process for evaluating data on emerging genetic tests. Oxford: Oxford University Press, 2004: 217-233.
11. Public Health Genomics. ACCE Model List of 44 Targeted Questions. Available at: https://www.cdc.gov/genomics/gtesting/acce/acce_proj.htm.
12. Medical Service Advisory Committee, Australian Government, Department of Health. Clinical Utility Card for heritable mutations which increase risk in disease area. Available at: http://www.msac.gov.au/internet/msac/publishing.nsf/Content/9C7DCF1C2DD56CBECA25801000123C32/$File/Glossary-CUC-proforma.pdf.
13. Kroese M, Zimmern RL, Farndon P, et al. How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network. Eur J Hum Genet, 2007, 15(9): 917-921.
14. Schmidtke J, Cassiman JJ. The EuroGentest clinical utility gene cards. Eur J Hum Genet, 2010, 18(9): 1071.
15. Fleeman N, Martin Saborido C, Payne K, et al. The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review. Health Technol Assess, 2011, 15(33): 1-102.
16. 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(2): 301-316.
17. Gutiérrez-Ibarluzea I. Personalised health care, the need for reassessment. A HTA perspective far beyond cost-effectiveness. Ital J Public Health, 2012, 9(4): e8653.1-e8653.9.
18. Merlin T, Farah C, Schubert C, et al. Assessing personalized medicines in Australia: a national framework for reviewing codependent technologies. Med Decis Making, 2013, 33(3): 333-342.
19. Drummond MF, Sculpher MJ, Claxton K, et al. Methods for the economic evaluation of health care programmes. Oxford: Oxford university press, 2015.
20. 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, 2009, 11(1): 3-14.
21. CDC. Evaluation of Genomic Applications in Practice and Prevention (EGAPP). Available at: https://www.cdc.gov/egappreviews/process.html.
22. NICE. Diagnostics Assessment Programme. Available at: http://www.sciencedirect.com/science/article/pii/S2211883712000068.
23. Morton S, Berg A, Levit L, et al. Finding what works in health care: standards for systematic reviews. New York: National Academies Press, 2011.
24. Khoury MJ, Coates RJ, Evans JP. Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence. Genet Med, 2010, 12(11): 680-683.
25. Kuntz K, Sainfort F, Butler M, et al. Decision and simulation modeling in systematic reviews, 2013. Available at: https://www.ncbi.nlm.nih.gov/pubmed/23534078.
26. 刘跃华, 戴纯, 杜天天, 等. 美国肿瘤药物价值评价框架的启示. 中国医疗保险, 2019, (5): 69-71.
27. 基因谷. 全国肿瘤体细胞突变高通量测序检测第一次室间质量评价满分单位. Available at: http://www.sohu.com/a/139038550_733985.

Chinese Journal of Evidence-Based Medicine

Introduction of international evaluation process of genetic testing technology

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