Newborn Screening – What ails India?
Out of the approximately 25 Million new births in India, there are an estimated 1.6 Million babies born with birth defects including about 620,000 with genetic disorders. Despite very good evidence that early detection of conditions, such as congenital hypothyroidism, Phenylketonuria, Homocystinuria and others, is absolutely essential for appropriate management to be instituted there is no mandatory newborn screening program in place.
While it may be a fatalistic attitude of many people to accept the misfortune of families that have an affected baby, this is no longer justifiable in the many advanced medical centers, both government and private, where thousands to millions of babies are born every year. It has to be accepted standard of care for those managing ante-natal cases to make the parents aware of the possibility of genetic disorders and also that a simple test exists to detect many of the conditions.
I am sure that many of the hospital laboratories are perfectly capable of performing a TSH screen using EIA or biochemical tests for some of the other inborn errors of metabolism (IEM), but how many hospitals have a mandatory policy of testing every new born for these conditions? As parents paying for a safe delivery – for both the mother and child – not getting the information about the screening tests from the care givers can be a case for medical negligence.
Clearly it is not the technology that is preventing Indian born babies from getting tested. There are many reference labs in India including NeoGen Labs and Dr Lal PathLabs that offer the complete complement of tests including Tandem Mass Spectrometry that screen for about 50 genetic disorders, but anecdotal evidence is that hospitals use these services quite rarely – and then only for testing already sick babies – too late for the right management to be started.
It cannot be that our expert neonatologists and pediatricians are unaware of the advantages of early newborn screening - our NICUs are full of babies who are bearing the brunt of our of healthcare system not doing their job even before they were born. Taken individually all the players seem to be doing their job – the labs are offering the tests, the pediatricians are taking care of the sick babies, the obstetricians are making sure that the birth is OK, the health ministry focusing on the more prevalent problems like infectious diseases and malnutrition. However this is of little use to parents who get an affected baby with Congenital Hypothyroidism who is mentally retarded because the system failed them. It will probably need some well publicized court cases to get our hospitals to start doing what they should in the first place – offer newborn screening to all babies!