Kerala, with its low infant mortality rate and excellent health indices, is ideally placed to launch a programme for newborn screening for early identification and management of genetic disorders, especially inborn metabolic disorders.

At a workshop on ‘Metabolic disorders in paediatric practice,' organised by the Department of Paediatrics, SAT Hospital, and the Genetics chapter of the Indian Academy of Paediatrics, here on Sunday experts said cost-effective newborn screening strategies, which focus on specific genetic disorders for which treatment is available and affordable, should be introduced and integrated with the public health system.

Madhulika Kabra, Professor of Genetics at the Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, said Goa had gone ahead of Kerala in bringing down neonatal mortality rate because it had launched a fully-funded government programme for newborn screening.

The Goa government's newborn screening programme screened babies for some very common and treatable congenital disorders using a recent technology called Tandem Mass Spectrometry (TMS).

The TMS was an automated technology to detect certain biochemicals from a blood sample of a newborn. The value of certain fatty acids and amino acids in the blood sample could indicate the genetic defect. The government also supported the management of these disorders that required special diets for the infants.

Kerala with a low infant mortality ratio could initiate pilot programmes for newborn screening that would give a clear idea of the feasibility and cost-effectiveness of implementing it universally, Dr. Kabra said.

ICMR programme

The Indian Council for Medical Research had almost completed the first multi-centre pilot programme in which 1 lakh babies from five centres in the country were being screened for two of the commonest genetics disorders congenital hypothyroidism and congenital adrenal hyperplasia for which treatments were possible.

The results of the study were expected soon and it would decide the feasibility of introducing universal newborn screening in the country, Dr. Kabra said.

Geneticists and paediatricians pointed out the importance of genetic counselling and pre-natal screening services in preventing the birth of children with certain severe genetic metabolic disorders, such as Lysosomal Storage Disorders, for most of which treatment and management may not be possible.

Diagnosis of genetic disorders through early screening was beneficial only if the system was able to offer proper medical care and management for the condition. The State needed to invest more in establishing diagnostic facilities for genetic disorders, facilities for treatments such as enzyme replacement therapy, and more paediatricians with specialty training.

The State needed to develop a Birth Defects Registry to study the incidence of various genetic disorders and offer proper counselling to parents, the experts said.