The economic evaluation of screening and early diagnosis of primary immunodeficiency diseases: a systematic review_Chinese Journal of Evidence-Based Medicine

Authors：

ZHANG Fan ^1,2 , SHI Liuyan ³ , ZHAO Xiaodong ⁴ ,  LIU Yuehua ^1,2 , ZHAO Kun ^1,2

1. Wanke School of Public Health, Tsinghua University, Beijing 100084, P. R. China;
2. Institute for Health China, Tsinghua University, Beijing 100084, P. R. China;
3. School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing 211198, P. R. China;
4. Children's Hospital of Chongqing Medical University, Chongqing 400014, P. R. China;

Corresponding author：

LIU Yuehua, Email: liu_yuehua@tsinghua.edu.cn

Keywords：

Primary immunodeficiency diseases; Neonatal screening; Cost-effectiveness analysis; Systematic review

DOI：

10.7507/1672-2531.202203086

Video：

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Objective To systematically review the economics evaluation studies on the early screening or diagnosis of primary immunodeficiency diseases (PID). Methods Web of Science, CRD, PubMed, The Cochrane Library, CNKI and WanFang Data databases were electronically searched to collect the economics evaluation studies on the early screening or diagnosis of PID from inception to July 1^st, 2022. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies, then, a descriptive systematic review was performed. Results A total of 10 studies focusing on SCID were included. The results showed that under a relatively high threshold, the early screening and diagnosis of SCID were cost-effective, which can reduce severe infections in patients and treatment costs while improving patient’s survival. Conclusion Current evidence shows that early diagnosis of PID can reduce costs and improve benefits. Due to limited quality and quantity of the included studies, more high quality studies are needed to verify above conclusion.

Citation： ZHANG Fan, SHI Liuyan, ZHAO Xiaodong, LIU Yuehua, ZHAO Kun. The economic evaluation of screening and early diagnosis of primary immunodeficiency diseases: a systematic review. Chinese Journal of Evidence-Based Medicine, 2023, 23(2): 170-178. doi: 10.7507/1672-2531.202203086 Copy

1.	中华医学会儿科学分会免疫学组, 《中华儿科杂志》编辑委员会. 原发性免疫缺陷病抗感染治疗与预防专家共识. 中华儿科杂志, 2017, 55(4): 248-255.
2.	杨军, 赵晓东. 中国原发性免疫缺陷病治疗现状与展望. 中华儿科杂志, 2018, 56(3): 163-165.
3.	Wang LL, Jin YY, Hao YQ, et al. Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009). J Clin Immunol, 2011, 31(3): 297-308.
4.	杨锡强. 免疫学与儿科临床第八讲原发性免疫缺陷病的诊断. 中国实用儿科杂志, 2000, 15(8): 504-506.
5.	Errante PR, Franco JL, Espinosa-Rosales FJ, et al. Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives. Ann N Y Acad Sci, 2012, 1250: 62-72.
6.	Immune Deficiency Foundation. Primary immunodeficiency diseases in America: 2007. IDF: The third national survey of patients, 2009.
7.	Jiang F, Torgerson TR, Ayars AG. Health-related quality of life in patients with primary immunodeficiency disease. Allergy Asthma Clin Immunol, 2015, 11: 27.
8.	Fischer A, Provot J, Jais JP, 等. 原发性免疫缺陷病易发生自身免疫病和炎症表现. 中华临床免疫和变态反应杂志, 2018, 12(2): 230-235.
9.	杨锡强, 赵晓东. 防治原发性免疫缺陷病—全社会的责任. 中华实用儿科临床杂志, 2015, 30(9): 641-643.
10.	Guaní-Guerra E, Jiménez-Romero AI, García-Ramírez UN, et al. Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico. PLoS One, 2017, 12(4): e0175867.
11.	赵晓东. 促进原发性免疫缺陷病的新生儿筛查. 中华儿科杂志, 2015, 53(12): 884-886.
12.	吴俊峰, 赵晓东. 原发性免疫缺陷病早期识别. 中国实用儿科杂志, 2011, 26(11): 805-807.
13.	余加林, 赵晓东, 郭杨杨, 等. 3月龄内婴儿原发性免疫缺陷病的诊断方案建议. 中国当代儿科杂志, 2017, 19(1): 22-26.
14.	Bousfiha A, Jeddane L, Al-Herz W, et al. The 2015 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol, 2015, 35(8): 727-738.
15.	杨丽君, 李牛, 刘毅, 等. 基于靶向基因测序的原发性免疫缺陷病基因诊断方法. 上海交通大学学报(医学版), 2017, 37(3): 390-393.
16.	Husereau D, Drummond M, Augustovski F, et al. Consolidated health economic evaluation reporting standards 2022 (CHEERS 2022) statement: updated reporting guidance for health economic evaluations. Value Health, 2022, 25(1): 3-9.
17.	McGhee SA, Stiehm ER, McCabe ER. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr, 2005, 147(5): 603-608.
18.	Chan K, Davis J, Pai SY, et al. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab, 2011, 104(3): 383-389.
19.	Ding Y, Thompson JD, Kobrynski L, et al. Cost-effectiveness/cost-benefit analysis of newborn screening for severe combined immune deficiency in Washington State. J Pediatr, 2016, 172: 127-135.
20.	Van der Ploeg CPB, Blom M, Bredius RGM, et al. Cost-effectiveness of newborn screening for severe combined immunodeficiency. Eur J Pediatr, 2019, 178(5): 721-729.
21.	Bessey A, Chilcott J, Leaviss J, et al. A cost-effectiveness analysis of newborn screening for severe combined immunodeficiency in the UK. Int J Neonatal Screen, 2019, 5(3): 28.
22.	Van den Akker-van Marle ME, Blom M, van der Burg M, et al. Economic evaluation of different screening strategies for severe combined immunodeficiency based on real-life data. Int J Neonatal Screen, 2021, 7(3): 60.
23.	Kubiak C, Jyonouchi S, Kuo C, et al. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. J Allergy Clin Immunol Pract, 2014, 2(6): 697-702.
24.	Clément MC, Mahlaoui N, Mignot C, et al. Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data. J Allergy Clin Immunol, 2015, 135(6): 1589-1593.
25.	Hays LH. Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis. Public Health Nurs, 2019, 36(4): 541-544.
26.	Thomas C, Durand-Zaleski I, Frenkiel J, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol, 2019, 202: 33-39.
27.	赵晓东. 关注新生儿原发性免疫缺陷病筛查及基因诊断. 中华妇幼临床医学杂志(电子版), 2014, 10(4): 4-6.
28.	Immune Deficiency Foundation. SCID newborn screening campaign, 2010. Available at:https://primaryimmune.org./idf-advocacy-center/idf-scid-newborn-screening-campaign.

1. 中华医学会儿科学分会免疫学组, 《中华儿科杂志》编辑委员会. 原发性免疫缺陷病抗感染治疗与预防专家共识. 中华儿科杂志, 2017, 55(4): 248-255.
2. 杨军, 赵晓东. 中国原发性免疫缺陷病治疗现状与展望. 中华儿科杂志, 2018, 56(3): 163-165.
3. Wang LL, Jin YY, Hao YQ, et al. Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009). J Clin Immunol, 2011, 31(3): 297-308.
4. 杨锡强. 免疫学与儿科临床第八讲原发性免疫缺陷病的诊断. 中国实用儿科杂志, 2000, 15(8): 504-506.
5. Errante PR, Franco JL, Espinosa-Rosales FJ, et al. Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives. Ann N Y Acad Sci, 2012, 1250: 62-72.
6. Immune Deficiency Foundation. Primary immunodeficiency diseases in America: 2007. IDF: The third national survey of patients, 2009.
7. Jiang F, Torgerson TR, Ayars AG. Health-related quality of life in patients with primary immunodeficiency disease. Allergy Asthma Clin Immunol, 2015, 11: 27.
8. Fischer A, Provot J, Jais JP, 等. 原发性免疫缺陷病易发生自身免疫病和炎症表现. 中华临床免疫和变态反应杂志, 2018, 12(2): 230-235.
9. 杨锡强, 赵晓东. 防治原发性免疫缺陷病—全社会的责任. 中华实用儿科临床杂志, 2015, 30(9): 641-643.
10. Guaní-Guerra E, Jiménez-Romero AI, García-Ramírez UN, et al. Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico. PLoS One, 2017, 12(4): e0175867.
11. 赵晓东. 促进原发性免疫缺陷病的新生儿筛查. 中华儿科杂志, 2015, 53(12): 884-886.
12. 吴俊峰, 赵晓东. 原发性免疫缺陷病早期识别. 中国实用儿科杂志, 2011, 26(11): 805-807.
13. 余加林, 赵晓东, 郭杨杨, 等. 3月龄内婴儿原发性免疫缺陷病的诊断方案建议. 中国当代儿科杂志, 2017, 19(1): 22-26.
14. Bousfiha A, Jeddane L, Al-Herz W, et al. The 2015 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol, 2015, 35(8): 727-738.
15. 杨丽君, 李牛, 刘毅, 等. 基于靶向基因测序的原发性免疫缺陷病基因诊断方法. 上海交通大学学报(医学版), 2017, 37(3): 390-393.
16. Husereau D, Drummond M, Augustovski F, et al. Consolidated health economic evaluation reporting standards 2022 (CHEERS 2022) statement: updated reporting guidance for health economic evaluations. Value Health, 2022, 25(1): 3-9.
17. McGhee SA, Stiehm ER, McCabe ER. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr, 2005, 147(5): 603-608.
18. Chan K, Davis J, Pai SY, et al. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab, 2011, 104(3): 383-389.
19. Ding Y, Thompson JD, Kobrynski L, et al. Cost-effectiveness/cost-benefit analysis of newborn screening for severe combined immune deficiency in Washington State. J Pediatr, 2016, 172: 127-135.
20. Van der Ploeg CPB, Blom M, Bredius RGM, et al. Cost-effectiveness of newborn screening for severe combined immunodeficiency. Eur J Pediatr, 2019, 178(5): 721-729.
21. Bessey A, Chilcott J, Leaviss J, et al. A cost-effectiveness analysis of newborn screening for severe combined immunodeficiency in the UK. Int J Neonatal Screen, 2019, 5(3): 28.
22. Van den Akker-van Marle ME, Blom M, van der Burg M, et al. Economic evaluation of different screening strategies for severe combined immunodeficiency based on real-life data. Int J Neonatal Screen, 2021, 7(3): 60.
23. Kubiak C, Jyonouchi S, Kuo C, et al. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. J Allergy Clin Immunol Pract, 2014, 2(6): 697-702.
24. Clément MC, Mahlaoui N, Mignot C, et al. Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data. J Allergy Clin Immunol, 2015, 135(6): 1589-1593.
25. Hays LH. Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis. Public Health Nurs, 2019, 36(4): 541-544.
26. Thomas C, Durand-Zaleski I, Frenkiel J, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol, 2019, 202: 33-39.
27. 赵晓东. 关注新生儿原发性免疫缺陷病筛查及基因诊断. 中华妇幼临床医学杂志(电子版), 2014, 10(4): 4-6.
28. Immune Deficiency Foundation. SCID newborn screening campaign, 2010. Available at:https://primaryimmune.org./idf-advocacy-center/idf-scid-newborn-screening-campaign.

Chinese Journal of Evidence-Based Medicine

The economic evaluation of screening and early diagnosis of primary immunodeficiency diseases: a systematic review

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