Page 39 - HA Convention 2016 [Abstracts (Day 1)]

Masterclasses HOSPITAL AUTHORITY CONVENTION 2016

M7.1 Expanded Newborn Metabolic Screening in Hong Kong: 16:15 Convention Hall A
Collaboration in Implementation

Introduction and the First Pilot Expanded Newborn Metabolic Screening Programme in Hong Kong Tuesday, 3 May
Hui J
Department of Paediatrics, Prince of Wales Hospital, Hong Kong

Expanded newborn screening performed on dried blood spot cards obtained by heel pricks from newborn babies is a world
recognised cost-effective public health programme, which can reduce morbidity and mortality associated with inborn errors
of metabolism (IEM). It is recognised as one of the major child health advances of the past century and has become the
standard of neonatal care in most developed countries.

Following the announcement in the Chief Executive’s Policy Address in March 2015, the HKSAR government will look into the
feasibility of performing this form of screening at the public healthcare system in Hong Kong. The Department of Health and
the Hospital Authority have jointly set up a working group to study the types of diseases to be screened, scientific evidence
on the effectiveness of screening, actual arrangements and related recommendations. A pilot programme has been launched
at two public birthing hospitals since 1 October 2015. This pilot programme will run till early 2017 whereby a comprehensive
review will be conducted before further planning of expansion into a territory-wide programme.

For any newborn screening programme to run smoothly and affected IEM babies to be picked up and treatment instituted
at the earliest instance, a lot of hurdles need to be overcome. This can only be achieved by a seamless cooperation and
collaboration between multiple stakeholders involved in the following important aspects of the programme: education of the
general public, medical and nursing profession, the logistics of obtaining consent and performing heel pricks, the screening
tests at the laboratory, the followup and confirmatory testing, evaluation and auditing of the programme, the treatment and
long – term followup of affected individuals and their families.

Colleagues currently involved in the government’s pilot programme will be presented, and colleagues from The Chinese
University of Hong Kong will also share their experiences on private screening programme run for the last 2.5 years at the
Prince of Wales Hospital.

M7.2 Expanded Newborn Metabolic Screening in Hong Kong: 16:15 Convention Hall A
Collaboration in Implementation

Department of Health and Hospital Authority’s Pilot Study of Newborn Screening for Inborn Errors of Metabolism
Hau EWL
Clinical Genetic Service, Department of Health, The Government of the Hong Kong Special Administrative Region

The existing newborn screening programme in Hong Kong was established in 1984 and two congenital diseases are
covered: glucose-6-phosphate dehydrogenase deficiency and congenital hypothyroidism. With the advancement of genetic
technologies in genetic diseases in recent years, the Government considered it is opportune to review the screening services
for newborn babies with a view to introduce suitable expansion of the screening programme, specifically on whether and
how to include Inborn Errors Metabolism (IEM). The Workgroup on Expansion of Neonatal Screening Programme in Hong
Kong (“Workgroup”) was set up in July 2013 to review the information and relevant evidence for the expansion of newborn
screening programme to cover IEM. The Workgroup finally decided to recommend to include IEM in the screening programme
for newborn babies. With the 2015 Policy Address announcing about the feasibility study of trying out in the public healthcare
system a screening programme for newborn babies for IEM, the Workgroup set up a task force to plan and prepare for the
implementation of the pilot study. After six months of preparation, the pilot study has been launched on 1 October 2015 in
two HA hospitals (Queen Elizabeth Hospital and Queen Mary Hospital). The pilot study will last for 18 months and be divided
in two phases — phase I from 1 October 2015 to 31 March 2016 (covering 21 IEM diseases) and phase II from 1 April 2016 to
31 March 2017 (three more IEM diseases and covering 24 IEM diseases in total).

This presentation aims to share with the audiences about the planning process, including criteria for selection of included
IEM diseases, preparation of education materials for adequately informing expectant parents, education to healthcare
professional, handling of dry blood spot specimens, managing screen-positive results, evaluation of the programme, and the
progress of the pilot study.

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