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：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

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.	中華醫學會兒科學分會免疫學組, 《中華兒科雜志》編輯委員會. 原發性免疫缺陷病抗感染治療與預防專家共識. 中華兒科雜志, 2017, 55(4): 248-255.
2.	楊軍, 趙曉東. 中國原發性免疫缺陷病治療現狀與展望. 中華兒科雜志, 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.	楊錫強. 免疫學與兒科臨床第八講原發性免疫缺陷病的診斷. 中國實用兒科雜志, 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. 原發性免疫缺陷病易發生自身免疫病和炎癥表現. 中華臨床免疫和變態反應雜志, 2018, 12(2): 230-235.
9.	楊錫強, 趙曉東. 防治原發性免疫缺陷病—全社會的責任. 中華實用兒科臨床雜志, 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.	趙曉東. 促進原發性免疫缺陷病的新生兒篩查. 中華兒科雜志, 2015, 53(12): 884-886.
12.	吳俊峰, 趙曉東. 原發性免疫缺陷病早期識別. 中國實用兒科雜志, 2011, 26(11): 805-807.
13.	余加林, 趙曉東, 郭楊楊, 等. 3月齡內嬰兒原發性免疫缺陷病的診斷方案建議. 中國當代兒科雜志, 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.	楊麗君, 李牛, 劉毅, 等. 基于靶向基因測序的原發性免疫缺陷病基因診斷方法. 上海交通大學學報(醫學版), 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.	趙曉東. 關注新生兒原發性免疫缺陷病篩查及基因診斷. 中華婦幼臨床醫學雜志(電子版), 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. 中華醫學會兒科學分會免疫學組, 《中華兒科雜志》編輯委員會. 原發性免疫缺陷病抗感染治療與預防專家共識. 中華兒科雜志, 2017, 55(4): 248-255.
2. 楊軍, 趙曉東. 中國原發性免疫缺陷病治療現狀與展望. 中華兒科雜志, 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. 楊錫強. 免疫學與兒科臨床第八講原發性免疫缺陷病的診斷. 中國實用兒科雜志, 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. 原發性免疫缺陷病易發生自身免疫病和炎癥表現. 中華臨床免疫和變態反應雜志, 2018, 12(2): 230-235.
9. 楊錫強, 趙曉東. 防治原發性免疫缺陷病—全社會的責任. 中華實用兒科臨床雜志, 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. 趙曉東. 促進原發性免疫缺陷病的新生兒篩查. 中華兒科雜志, 2015, 53(12): 884-886.
12. 吳俊峰, 趙曉東. 原發性免疫缺陷病早期識別. 中國實用兒科雜志, 2011, 26(11): 805-807.
13. 余加林, 趙曉東, 郭楊楊, 等. 3月齡內嬰兒原發性免疫缺陷病的診斷方案建議. 中國當代兒科雜志, 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. 楊麗君, 李牛, 劉毅, 等. 基于靶向基因測序的原發性免疫缺陷病基因診斷方法. 上海交通大學學報(醫學版), 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. 趙曉東. 關注新生兒原發性免疫缺陷病篩查及基因診斷. 中華婦幼臨床醫學雜志(電子版), 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

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content