ความเป็นไปได้ของการตรวจคัดกรองโรคพันธุกรรมเมตาบอลิกในทารกแรกเกิดโดยใช้เทคโนโลยีแทนเดมแมสสเปกโทรเมทรี

Roongnapa Khampang; Pakkanan Angkab; Pattara Leelahavarong; Wilailak Saengsri; Nithiwat Vatanavicharn

Authors

Roongnapa Khampang Siriraj Health Policy Unit, Faculty of Medicine, Siriraj Hospital, Mahidol University; and Health Intervention and Technology Assessment Program, Ministry of Public Health
Pakkanan Angkab Siriraj Health Policy Unit, Faculty of Medicine, Siriraj Hospital, Mahidol University; and Health Intervention and Technology Assessment Program, Ministry of Public Health
Pattara Leelahavarong Siriraj Health Policy Unit, Faculty of Medicine, Siriraj Hospital, Mahidol University; and Health Intervention and Technology Assessment Program, Ministry of Public Health
Wilailak Saengsri Health Intervention and Technology Assessment Program, Ministry of Public Health; and International Health Policy Program, Ministry of Public Health
Nithiwat Vatanavicharn Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University

Keywords:

expanded new-born screening,, inherited rare disease,, small molecule metabolic disease,, tandem mass spectrometry

Abstract

This study aimed to investigate the feasibility of the inclusion of the expanded newborn screening for inborn errors of metabolism using tandem mass spectrometry (TMS or MS/MS) in the benefit package of Thailand’s universal coverage scheme (UCS). A mixed-method approach was employed, including survey data, and in-depth interviews. The study participants were healthcare providers who were involved in providing screening and care for the patients in six healthcare facilities and 15 medical personnel and scientists. Descriptive statistics and content analysis were used to analyze quantitative and qualitative data respectively. The study found that in 2021, there were two MS/MS equipment providing services for up to about 60,000 cases per year, while 14 MS/MS were needed to cover all newborn populations in the country within 2026. Therefore, it is necessary to install 12 more MS/MS equipment. It was also found that the rare disease centers or healthcare facilities that could provide screening, diagnosis, and treatments were not evenly available in all regions of Thailand. The facilities were concentrated in Bangkok areas and the number of service personnel was small. In the future, the national neonatal screening center and relevant sectors should develop a comprehensive plan to facilitate, supervise, and monitor the installation, technology transfer, and expansion of the MS/MS technology to cover the whole country.

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