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!
Comments
Dear all,
Hello!
Yes, we all agree about the role of new born screening of many diseases. I am working in Najran, Saudi Arabia where there is mandatory National new born screening for Congenital hypothyroidism. Many papers have been published on it. The costly screening is cost-effective if we calculate the cost of total care of these children if hypothyroid children escape screening.
Govt. of India should make it free & mandatory like birth registration. Saudi is a rich country because of largest producer of oil, but India is also not a poor country.
Dr.Yogesh Chhabra
Pathologist, Najran, Saudi Arabia
Posted by: Dr.Yogesh Chhabra | December 20, 2007 01:25 PM
Hi Everybody,
Although curable and needs to be given due attention, Govt of India is busy in handling epidemics and more common problems like anaemia , fever control , tuberculosis control etc. Even monitoring pregnancy has been the national programme in India. Their first goal is to achieve and extend treatment and guidance to pregnant females rather than stressing on the diseased newborn. If this is the scenario with Govt of India, then this all rests upon the multispeciality and corporate hospitals to extend this information to the expecting parents and get it done.
Posted by: Dr.Rajesh Phatale , Pathologist , Maharashtra , India | December 23, 2007 10:23 PM
Yes I agree that the test can be and should be made available and information given to all parents,but making it mandatory (?) especially the multispeciality hospitals...we all know the problems,being called ruthless..money making business houses ....
Posted by: Dr.Madhu Chandra | December 24, 2007 10:07 AM
A key point noted in the article is that parents need to be made aware that the possibility of genetic/metabolic disorders does exist, and that a simple test is available to detect them. While many of the samples we receive at NeoGen Labs are high-risk cases, we are also seeing an increasing number of samples sent to us purely as a screening measure. More and more parents in India are choosing to have a single child and are keen to safeguard its future by every means possible. These parents deserve to know about newborn screening and that it’s up to them to request the test.
When affordability is an issue, it might make sense to screen only high risk babies as NeoGen Labs often does, upon a doctor’s request and many times free of cost. While mandatory screening is probably a few years away in India, till then, we do the best we can.
Posted by: Nihal George | January 18, 2008 04:59 PM
Our firm - a US based laboratory with premier scientists and professors is equipped with Tandem Mass Spectrometry is at the fore front of this issue in developing countries. Currently we are servicing India and several South American countries by collecting samples and processing in the US. Results are available with in a few days.
2M Foundation is created to generate funds to perform the same ENBS testing for the poor at no cost.
Posted by: Ravindra Kulkarni | September 1, 2008 11:15 PM
Hi Everybody,
I am representing 2M Associates in India. We have an association with University of Colorado, under the guidence of Dr. Stephen Goodman. We have started collecting the samples. As a policy of our company, we have decided that we will be offering free services to poor
Posted by: Ravindra Kulkarni | September 4, 2008 10:21 PM
The scenario demands a holistic approach rather then a piece meal efforts, like Immunization program has been extremely successul in India, the same should be applied to New born screening in India too, while a few corporate hospitals have made this mandatory the total no. screened are just a few so far.
A right approach is to initiate PPP model in this segment thereby increasing the penetration and effectiveness of the process.
Sanjay Bhardwaj, India
Posted by: Sanjay K Bhardwaj | December 26, 2008 09:43 AM