Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile, discussed the current state of newborn screening and what needs to change.
For some rare genetic and inborn diseases, early detection and diagnosis via newborn screening, and subsequent treatment, can be a game changer in terms of outcomes for patients. As more gene therapies for such diseases have entered the clinical pipeline in recent years, and with some even reaching the commercialization stage now, the importance of newborn screening is only growing. Despite this, many countries around the world have still not implemented newborn screening for any diseases as standard practice.
Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile, recently presented on the current state and importance of newborn screening in the world today at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania. In an interview with CGTLive™ at the conference, Cabello summarized the key points of his presentation and stressed the importance of establishing newborn screening practices in countries that lack them. He also gave some background information on the origin and history of newborn screening practices in the United States.
Juan Francisco Cabello, MD: First of all, it is difficult to have good data about that, but there are a few papers that try to diagnose newborn screening around the world. There is a 2015 paper—I mention the date because it's in the last 8 years— and we have nothing new after that paper. That paper proposed that newborn screening started in the 1960s in the United States [and was intended as an equity tool] because the idea was to offer to all the American citizens at the time a dual screening to test for congenital hypothyroidism and for phenylketonuria. But over time, other developed countries—those in Europe; Japan; Australia—started with their own newborn screening programs. But there are many areas in the world that still that have no newborn screening for any condition. So today, 60 years after, newborn screening is one of the worst examples of inequities in global health. That's exactly the point that the 2015 paper tried to point out because they showed that here in the United States, for example, every state is mandated to perform newborn screening for at least 34 conditions and as a mother you are free to choose from 27 conditions. There are at least 3 states that have started with genomic newborn screening. That means that you will perform genomic tests for every newborn. But 2 thirds of the global population in the world is not performing anything for the newborns; that's what the 2015 paper mentioned.
There is a new [paper] regarding Latin America, where I'm coming from, from 2021. It didn't mention numbers, but you can suspect that at least 50% of the population in Latin America is not doing anything. Chile, Costa Rica, and Uruguay are the countries who are doing better programs [in Latin America]. Chile's doing 2 conditions, congenital hypothyroidism and phenylketonuria, and Costa Rica and Uruguay started with expanding newborn screening with more conditions. But many countries still have nothing going up to 2023. Those are the data; it’s not the best data because it's difficult to have information for every country. Most of the countries have no data about newborn screening. But those are the global efforts to try to put together all the information.
Robert Guthrie, MD, PhD, started with newborn screening in New York [in the 1960s], and then he moved to New England because in New York he had no support to start with this. People from Boston offered him support; there are many interesting papers reviewing the history of Guthrie. When he started, it was, as I told you, an equity tool because the idea was to offer to every newborn in the country the same possibility to be rescued from what at the time was called “mental retardation”—today, we don't talk about that, we talk about “intellectual disability,” but in the 1960s, the term was “mental retardation”. So the message at that time was, if the child is born with a condition that could be detected in a very early stage of the disease and we could start with a cost-effective treatment, we could have a program where we will detect in every newborn, potentially 2 conditions (at that time), and we will rescue the patient from the intellectual disability and many other neurological sequelae. And so, the basis of newborn screening since its origin is that with a very simple test and with a simple and cheap treatment you can rescue patients from the neurological sequelae. And most importantly, those patients will grow up and will be adults that will generate money, and give back the money that their country invests on them to finance other patients. So it's a very good example of a public health initiative that is very cost-effective, cheap, and rescues a lot of people from very severe neurological sequelae. Phenylketonuria is the icon of newborn screening. It’s a rare condition; 1 in 12,000 to 1 in 18,000 newborns are born with that condition. If you are not able to detect phenylketonuria, those patients can come to the neurologist at 3, 4, or 5 years old with a very severe developmental delay, epilepsy, refractory epilepsy, autism, and many other irreversible neurological sequelae. And if you detect those patients’ [phenylketonuria] in the first month of life, and you treat them with a special formula, which is very cheap, you are able to have normal children and a normal adult. So that's the importance of newborn screening for the patient. For the global perspective, as we already discussed, it is a very powerful tool for health equity; that's the idea.
Transcript edited for clarity.
Cabello JF. Ethical considerations of newborn metabolic screening in international settings. Presented at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania.