Health Economics Evaluation Of Expanded Newborn Screening For Inherited Metabolic Diseases In Shenzhen

[Purpose] Expanding newborn screening for inherited metabolic diseases has become a development trend in the field of newborn screening at home and abroad,but there is no uniform standard for expanding diseases in China and no evidence of health economics evaluation for expanding newborn screening.Based on literature and expert opinion,this study aimed to screen for suitable inherited metabolic diseases through comprehensive score and to provide a list of recommended diseases for Shenzhen to expand newborn screening.Based on the diseases that are suitable for amplification,and from a social perspective,the cost-effectiveness of screening and non-screening of these diseases,as well as expanding screening and current PKU screening in Shenzhen were evaluated,so as to provide health economics evidence for the health decision of expanding screening for inherited metabolic diseases in Shenzhen.[Methods] Information on inherited metabolic diseases of expanding newborn screening was obtained through literature reaearch and expert consultation,the suitable diseases for expanding newborn screening were selected by comprehensive score.The Markov model was used to simulate the cost-effectiveness of screening and non-screening programs of these suitable diseases,as well as expanding screening and current PKU screening program.The Tree Age Pro 2018 was used to construct the markov decision model for expanding newborn screening of inherited metabolic diseases and to conduct cost-effectiveness analysis to calculate cost,effect,incremental cost,incremental effect and incremental cost-effectiveness ratio.The outcome indicators were life year（LY）and quality-adjusted life year（QALY）.At the same time,single factor and Tornado diagram sensitivity analysis were performed to find the important factors affecting the results of the model.[Results] The results of this study showed that there are 9 diseases that can be included in the list of recommended diseases,including isovaleric acidemia（IVA）,glutaric acidemia type（40）（GA（40））,medium chain acyl-Co A dehydrogenase deficiency（MCAD）,maple syrup urine disease（MSUD）,homocystinuria（HCY）,propionic acidemia（PA）,methylmalonic acidemia（MMA）,citrulline type（40）（CIT（40））and very long chain acyl-Co A dehydrogenase deficiency（VLCAD）.The results of Markov model showed that,from a social perspective,the first three cost-effective screenings were MCAD（8,575.37 yuan/LY,9,896.43 yuan/QALY）,HCY（13,688.80 yuan/LY,15,402.34 yuan/QALY）and MSUD（13,861.98 yuan/LY,15,531.19 yuan/QALY）.Compared with non-screening,the incremental cost-effectiveness ratio from low to high respectively in MCAD（10,199.19 yuan/QALY）,IVA（13,394.67 yuan/QALY）,MMA（14,635.54 yuan/QALY）,PA（14,681.62 yuan/QALY）,MSUD（15,328.09 yuan/QALY）and CIT（40）（23,761.23 yuan/QALY）.HCY and GA（40）has absolute advantages over non-screening,which has lower cost and better outcomes.Compared with current phenylketonuria screening program in Shenzhen,the cost of saving an additional QALY for expanded newborn screening program was 416,320.11 yuan.Sensitivity analysis results showed that compared with current phenylketonuria screening,discount rate,tandem mass spectrometry screening cost,diagnostic cost,and health utility value without sequelae had impact on the incremental cost-effectiveness ratio for expanding newborn screening.[Conclusions] It is recommended to add 9 diseases to the disease spectrum of expanding newborn screening for inherited metabolic disease,including IVA,GA（40）,MCAD,MSUD,HCY,PA,MMA,CIT（40）and VLCAD.According to the results of model simulation,expanding newborn screening for inherited metabolic disease is a cost-effective option,and it is acceptable to use tandem mass spectrometry to screen the above-mentioned diseases under the social and economic conditions in Shenzhen.