Hong Kong government set to test babies for inborn metabolic diseases at cost of HK$10 million a year

Government plans to benefit 50,000 newborn babies a year at a cost of HK$10 million in initiative unveiled in chief executive's policy address

PUBLISHED : Sunday, 08 March, 2015, 11:58pm
UPDATED : Monday, 09 March, 2015, 6:02pm

A new screening programme for newborn babies announced in the policy address is likely to involve a blood test for 12 types of inborn metabolic diseases that affect one in every 3,000 local infants, the South China Morning Post has learned.

The neonatal screening test would cost the government at least HK$10 million a year at around HK$200 per test for the detection of congenital metabolic errors, according to a medical source. The tests would be carried out within 48 hours of birth.

The inborn disorders to be tested would include phenylketonuria (PKU), caused by an enzyme deficiency which could turn some protein-rich food or sweeteners into poisons for young sufferers, the source said.

It is expected to benefit around 50,000 newborn babies every year.

The initiative was announced by Chief Executive Leung Chun-ying in his policy address in January. A working group is studying the details of the screening programme.

Without the test, experts said these inborn disorders usually went unnoticed among sufferers - until they suddenly collapsed or developed serious conditions.

"Many local babies are not tested for the disorders now," said Dr Leung Tak-yeung, who heads the department of obstetrics and gynaecology at Chinese University. "The parents would not discover the conditions until their children suddenly fainted during exercise or were found to have a low IQ.

"This time, I hope the government will really put resources into diagnosing these rare but treatable diseases," Leung said. Inborn metabolism problems, including PKU, are a group of genetic disorders triggered by the accumulation of different toxic substances in the body or a reduced ability to take on essential compounds.

These disorders could affect brain development and function, leading to intellectual disability or even fatal complications. However, if detected early, many of these conditions can be treated by medication or by altering a baby's eating habits, said university paediatric consultant Dr Li Chi-kwong.

Both Leung and Li believed the screening test was necessary as many cities in the US, Singapore and Taiwan and some mainland centres had carried out the tests for a number of years.

Currently, local babies are only tested for glucose-6-phosphate dehydrogenase (G6PD) deficiency and hypothyroidism using cord blood, Li said.

Chinese University has offered a screening programme for inborn metabolism problems since 2013 at a charge of HK$800 per test for 30 congenital errors, including fatty acid oxidation and organic acid disorders.

Leung explained that the test, which requires the collection of a few drops of blood by pricking a baby's heel, could be done one day after oral feeding begins, with results available within a few days. So far, over 10,000 babies at the university's Prince of Wales Hospital in Sha Tin and private hospitals have been tested.

A spokesman for the Department of Health said the working group had been studying the types of disease to be screened and scientific evidence of the test's effectiveness.