Opening Ceremony of the 6th Asia Pacific Regional Meeting of the International Society of Neonatal Screening

29 Aug 2007

By Prof K Satku

Venue: The Furama Riverfront Hotel

Dr Gerard Loeber

President

International Society for Neonatal Screening

Assoc Prof Roy Joseph

Chairman

Organising Committee

Assoc Prof Samuel Rajadurai

Chairman

Scientific Committee

Distinguished Guests, Colleagues, Ladies and Gentlemen

INTRODUCTION

It gives me great pleasure to be here this evening at the opening of the 6th Asia Pacific Regional Meeting of the International Society of Neonatal Screening.

Let me begin by extending a very warm welcome to all overseas speakers and delegates.

I am told that this meeting brings together over a hundred and fifty participants from more than 20 countries. This underscores the importance of such a meeting. It provides a platform for screening programme directors, chemical pathologists, nurses and paediatricians from the Asia-Pacific region to discuss and collaborate on screening techniques and programmes. 

DEVELOPMENT OF NEONATAL SCREENING PROGRAMMES

Neonatal screening has contributed significantly to the health of our population.

The first milestone in neonatal screening was the development of the screening programme for erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency.

The incidence of G6PD deficiency in Singapore is 1.6%. G6PD deficiency screening was introduced here in 1965 by Prof Wong Hock Boon. Prof Wong Hock Boon, who is now retired, was Singapore’s foremost paediatrician. His far-sightedness and scholarly guidance put in place many initiatives for the safe growth and development of generations of Singapore children.

This screening programme has virtually eliminated the morbidity and mortality arising from kenicterus, from over a hundred cases annually in the early years to 1 or zero since the eighties. I remember those times when every day a couple of babies needed urgent exchange transfusion, laboriously performed by junior doctors.

Without doubt, this screening, together with other advances in the treatment of neonatal jaundice created a quantum leap in medical care of neonates at very little cost to individual families!

The second milestone was the introduction of neonatal screening for congenital hypothyroidism. In Singapore, we introduced this screening in 1990. Although the incidence is less than that of G6PD deficiency, about 0.03%, hypothyroidism is an eminently treatable condition.

This was followed by screening for hearing impairment, which we introduced in 2002.  Severe hearing loss is present in 0.18% of newborns in our population. These screening programmes have now become a standard of care for neonates in Singapore.

In 2005, my Ministry decided to support an application to evaluate screening for inborn errors of metabolism using Tandem Mass Spectrometry (TMS). To date we have screened about 18,000 babies, and detected 4 cases of inborn errors of metabolism.

At this juncture, I would like to take a moment, to thank Dr Janice Fletcher and Dr Enzo Ranieri of Women’s and Children’s Hospital, Adelaide, two international experts, who have rendered invaluable assistance to us in getting this programme off the ground.

The several publications suggesting that newborn screening for inborn errors of metabolism using TMS is cost-effective and our own experience led us, since July 2006, to make this programme available for routine use. There is however still no universal agreement amongst our medical colleagues here in Singapore on whether it should be standard care.  Let me elaborate further.

STANDARD OF CARE

In the year following the availability of TMS in Singapore, what was notable was the inconsistency with which this test was offered by different institutions. At one centre, the screening rate was 95%. At another, it was 65%, and at a third, the screening rate was less than 20%. Low or inconsistent coverage indicates that there are issues which we should investigate further.

I acknowledge that after taking into account all practical  considerations including cost effectiveness and ethical concerns, we may decide not to make screening for inborn errors of metabolism a standard of care but at least then, we would have done due diligence. But if we are clear of its value and cost effectiveness in our local context, we should establish it as a standard of care. Neonatologists and paediatricians should then offer this test for every neonate.

I understand that even after a professional decision is made to accept the test as a standard of care that there could be several factors that can affect the coverage rate.

If cost is an issue to some individuals, we should study how we can assist these families to ensure a consistent approach to all newborns so that every child is given the best chance possible to develop normally. If the parent declines the test after being informed about it, it is understandable but it should be documented clearly in the records. However, if a paediatrician decides not to raise the issue with the parent despite a decision to accept the test as a standard of care, then we are failing in our standards.

I hope this conference will provide us with greater clarity on some of the issues pertaining to screening for inborn errors of metabolism using TMS and I look forward to a report from the Singapore TMS team and our College of Paediatricians to resolve this issue.

FUTURE DEVELOPMENTS IN NEONATAL SCREENING

Finally, I am delighted to note that this conference would also deliberate on some of the exciting research in neonatal screening. Metabolic diseases such as diabetes are major causes of morbidity and mortality throughout the world.

Atopy and allergic disorders are also increasing. Early identification and intervention may delay and may even prevent the occurrence of these diseases. Research so far has identified potential markers of these diseases. For example, low birth weight has been associated with Metabolic Syndrome or increased risk for stroke, cardiovascular diseases and diabetes. Leptin levels have been associated with childhood obesity and cord blood Ig E levels with atopy and allergic disorders.

We should continue to focus on developing the precision and validity of these tests and determining if early neonatal diagnosis and intervention leads to improved clinical outcomes. However, as with all new screening tests, we must ensure that following diagnosis there are appropriate interventions that will benefit patients. These tests should not be developed and offered just because the technology exists.

CONCLUSION

Hence the challenge to us in developing new technologies or adopting new screening tests as standards of care is that we must thoroughly evaluate the need for such tests including its cost effectiveness and its ethical implications if any. Despite this cautious note I am sure all would agree that neonatal screening has contributed significantly to the health of our nation and the future of the science holds much promise.

On this note, I wish you well in your deliberations and an enjoyable learning and sharing experience.  Thank You.