LCQ7: Pilot Study on Newborn Screening for Inborn Errors of Metabolism
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     ​Following is a question by Dr the Hon David Lam and a written reply by the Secretary for Health, Professor Lo Chung-mau, in the Legislative Council today (June 3):
 
Question:
 
     ​​It is learnt that the Hospital Authority (HA) launched the Pilot Study on Newborn Screening for Inborn Errors of Metabolism (screening programme) in 2015 to test newborns for congenital hereditary diseases with a view to early identification and treatment. Subsequently, the HA regularised the screening programme in eight public hospitals, and extended it to two private hospitals from the middle of last year. the HA indicated that the screening programme would be extended to more private hospitals as early as this year. In this connection, will the Government inform this Council:
 
(1) whether it knows: (i) the additional resources (including manpower, equipment and consumables, such as reagents) used since the screening programme was extended to two private hospitals last year; (ii) the timetable for further extending the screening programme to other private hospitals and the estimated additional resources required;
 
(2) whether it knows: (i) the number and proportion of congenital hereditary diseases detected under the screening programme in each of the past five years, as well as the number and proportion of cases among newborns screened where developmental defects or delays were prevented or improved through early treatment; (ii) the estimated number of additional cases that can be screened out annually following the extension of the screening programme to private hospitals;
 
(3) whether the authorities or the HA has put in place countermeasures or prepared additional resources and manpower to avoid a backlog of cases arising from the expansion of the service coverage of the screening programme; and
 
(4) whether the authorities or the HA has established key performance indicators for the screening programme to assess the effectiveness of the professional support (such as timely counselling and treatment) provided to parents and affected infants; if so, of the details?
 
Reply:
 
President,
 
     ​Newborn screening is a core public health prevention measure designed to assist in the early identification of high-risk cases of certain hereditary and rare diseases through advanced medical testing. This allows newborns to receive timely and appropriate treatment, thereby reducing the long-term burden on families and the overall public healthcare system.
 
     ​Since 2015, the Department of Health, through the Hospital Authority (HA), has conducted the Pilot Study on Newborn Screening for Inborn Errors of Metabolism (IEM) in public hospitals. The Newborn Screening Programme for Inborn Errors of Metabolism (Screening Programme) was regularised on October 1, 2020, and further extended to all public hospitals with obstetric departments under the HA. Currently, over 99 per cent of babies born in public hospitals receive this screening. Under the Screening Programme, in addition to basic check-ups provided for babies born in public hospitals, the HA also provides screening for 30 types of IEM, Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA). The HA also has a mechanism in place to regularly review whether additional diseases should be included in the screening. The Screening Programme has been implemented in public hospitals for years. From its regularisation on October 1, 2020, to the end of December 2025, over 100 000 babies born in public hospitals have been screened, and more than 40 rare disease cases have been successfully identified. This demonstrates that screening is effective in identifying patients and arranging for their treatment early.
 
     ​To provide more comprehensive health protection for babies born in Hong Kong, the Government proposed in the 2024 Policy Address to extend the coverage of the HA's newborn screening service to babies born in private hospitals. Since 2025, babies born in private hospitals participating in the Screening Programme are eligible for free screening services, provided that at least one of their parents is a Hong Kong resident.
 
     ​In consultation with the HA, the consolidated reply to the question raised by Dr the Hon David Lam is as follows:
 
(1) and (3) As at May 2026, the HA has signed co-operation agreements with six private hospitals, namely Gleneagles Hospital Hong Kong, Hong Kong Sanatorium and Hospital, St. Paul's Hospital, St. Teresa's Hospital, Union Hospital, and Matilda International Hospital, and has launched newborn screening services for these hospitals. The HA will provide screening services covering 30 types of IEM, SCID, and SMA for babies born in the aforementioned private hospitals. The HA will continue to communicate with private hospitals interested in joining the Programme to extend the Screening Programme to more private hospitals.
 
     ​Participation in the Screening Programme is voluntary. Other private hospitals may decide for themselves whether and when to join, and the actual testing demand also depends on the participation rates of the private hospitals and parents of newborns. For babies born in private hospitals that have not yet joined the Screening Programme, parents can also arrange for them to receive screening services provided by private healthcare institutions. The HA currently does not have statistics on the coverage of screening services for babies born in private hospitals, but will, depending on actual circumstances, collect relevant data for reference in the future.
 
     ​At present, the HA can provide a service capacity of approximately 25 000 newborn screening tests per year, which is sufficient to meet current and additional testing demand. The HA will flexibly allocate resources according to actual participation rates to meet operational needs. If there is further growth in testing demand in the future, the HA will increase its service capacity accordingly.
 
     (2) and (4) From the regularisation of the Screening Programme on October 1, 2020, to the end of December 2025, over 100 000 newborns have participated in the Programme. The number of confirmed cases and the corresponding confirmation rates are as follows:
 
Screening category Number of confirmed cases in HA screening Confirmation rate (approximate) in HA screening
IEM
(covering 30 conditions)
42 1 : 2 000
SCID
(covered since October 2021)
3 1 : 12 000
SMA
(covered since October 2023)
4 1 : 26 000
 
     ​Since the extension of the Screening Programme to private hospitals, the HA has provided screening for over 1 500 babies born in private hospitals, with no confirmed cases identified as at April 30, 2026.
 
     ​Once a baby born in a public hospital is diagnosed with rare diseases through screening, the HA will follow up through a specialist team at the Hong Kong Children's Hospital (HKCH) to ensure the baby receives necessary treatment as early as possible. The HKCH under the HA also operates a 24-hour designated hotline for private hospitals to make enquiries regarding the Screening Programme and to refer confirmed cases. The HKCH has a specialist team to provide one-stop diagnostic, treatment and follow-up services for babies confirmed with rare diseases as early as possible, as well as offering comprehensive support to their families.

Ends/Wednesday, June 3, 2026
Issued at HKT 15:02

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