Stories of Impact

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Relationships, Newborn Screening In Chile, And The Need For A Mass Spectrometer


By Ozzy Samad

Your support for BBF’s humanitarian response to the war in Ukraine has enabled us to make a meaningful impact on the lives of so many who are facing life threatening circumstances. An unanticipated positive outcome of our efforts has been the development of collaborative relationships impacting other areas of BBF’s work.

One such partnership with neurologists at Boston Children’s Hospital (BCH) and their colleagues in Chile, has brought forth the importance of Newborn Screening (NBS) and the lack thereof, even in relatively developed countries such as Chile. The goal behind the project brought forth first to BBF by Dr. Christina Brisco-Abath and Dr. Agnes Kielian from BCH, is to help acquire a Mass Spectrometer to be able to do such screenings in Chile, and thereafter, expand the project to developing countries in similar circumstances.

The article below explaining NBS was especially written for our readers by Dr. Harvey Levy who is a distinguished neurologist at Boston Children Hospital and lectures at the Harvard Medical School, and Dr. Juan Francisco Cabello, a neurologist at the University of Valparaiso in Chile and Director of their Inborn Errors of Metabolism Laboratory. The aim of the authors is to point out the importance of newborn screening and the critical part the mass spectrometer can play in early identification and management of often life altering health issues.

I first met Bryan when he was 34 years old. He was in an institution for the mentally retarded (as they existed in those days). He had no speech, and he was so severely hyperactive as to be almost unmanageable. His IQ was untestable but estimated to be less than 30. Bryan was brought to the clinic to find out if anything could be done to make it easier to manage him. When Bryan was tested in the clinic, he was found to have a very high level of phenylalanine, the amino acid in his blood that indicated he had the metabolic disease known as phenylketonuria (PKU). PKU is the first discovered and the most frequent biochemical cause of severe mental disability. Had Bryan’s PKU been detected when he was a newborn, he would have been normal because he would have been placed on a special diet that prevents the brain damage in PKU. But he was born before newborn screening had been developed and by the time he was even 2 years old he had already developed the severe irreversible brain damage that was so evident as an adult.

Newborn screening for PKU was developed by Dr. Robert Guthrie in 1961 and begun in Massachusetts in 1962. Within a few years it spread throughout the United States and into a few countries in Europe. But screening was only for the one disease, PKU, and very soon Dr. Guthrie learned that there were many other metabolic diseases like PKU that caused brain damage or even, in these other diseases, heart damage or liver destruction or bone disease or other problems that could be prevented if babies were detected by a blood test just after birth before any signs of this damage appeared. However, newborn screening did not detect these other diseases because it only tested the blood for phenylalanine and these other diseases had had increases in other chemicals such as leucine or methionine or galactose. So, Dr. Guthrie modified his test so that it could also show an increases leucine if the baby had maple syrup urine disease or increases methionine if the baby had homocystinuria. Now newborn screening could detect these other diseases as well as PKU.

The problem is that there are close to a hundred or more serious metabolic diseases that cause irreversible problems and need to be detected in the newborn and Dr. Guthrie’s modifications of his test could only test for two more. But in the late 1990’s a very important development occurred. A technology known as tandem mass spectrometry was modified so that it could be used to test the blood from babies to detect with one test any one of 30 or 40 metabolic diseases. Within a few years a number of newborn screening laboratories were using tandem mass spectrometry and identifying babies for immediate treatment to prevent the problems that otherwise would have occurred. By 2006 or 2007 every newborn screening program in the United States was using tandem mass spectrometry to greatly expand newborn screening and now it is also used in almost every western European newborn screening program as well as in Australia, New Zealand, Japan, and South Korea.

The tragedy, however, is that in many other places throughout the world newborn screening is not performed and, consequentially, many babies are doomed to grow up to be like Bryan. It is estimated that less than a third of newborns in the world have access to any newborn screening test. In Latin America only 4 countries have programs with wide coverage (Cuba, Chile, Costa Rica and Uruguay) but many countries do not carry out any type of screening now more than 60 years after screening began in developed nations.

In times where global and equity in access to health seem to be concepts that generate high interest, it is entirely reasonable to generate efforts at different levels that allow improving access to these types of benefits , understanding that it is not enough to carry out only a physical examination of the newborn babies, but also to select the diseases that need to be incorporated in each area of the world and generate the conditions that would result in these babies receiving the treatments they require to grow into normal and healthy and productive children and adults.