National Newborn Screening Programs: An Overview of Challenges and Successes
Having just returned from a two-week trip to China and India, and having participated in a newborn screening workshop in Goa, India, I thought it was a good time to reflect on some of the challenges to the development of sustainable national newborn screening (NBS) programs in the developing healthcare systems of the world. And, to compare this to the progress that has been made in the implementation of newborn screening programs in the world’s more developed healthcare systems.
In the United States, the Secretary of the Department of Health and Human Services (HHS) maintains a list of newborn conditions that are recommended to be included in every state’s newborn screening program.
This Recommended Uniform Screening Panel, or RUSP, was first conceived in 2002 when the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA) at HHS commissioned the American College of Medical Genetics (ACMG) to conduct an analysis of the scientific literature on the effectiveness of newborn screening and to gather expert opinion to develop recommendations focused on newborn screening, including the development of a uniform condition panel.
Today the RUSP includes 35 core conditions (Spinal Muscular Atrophy being the most recently added to the panel, earlier this year) and 26 secondary conditions.
Of these 61 conditions, the majority (23 core and 22 secondary conditions, or 74% of all conditions) are routinely screened for by FIA-MS/MS – which is a big part of why mass spectrometry is so valuable to expanding NBS programs.
However, the situation is far less harmonized in the rest of the world, including in the highly developed healthcare systems of the European Union. In fact, the breadth of NBS programs in the EU span the entire spectrum, from Albania with no national NBS program at all, to Sweden and Spain whose NBS screening panels closely mirror that of the U.S.1
In the developing healthcare systems of the world, the situation is even more heterogeneous. In 2014, Brad Therrell and Carmen Padilla outlined some of the many barriers to implementing a newborn screening program and the national level in developing countries.2
I heard about many of these challenges during my trip to Goa, India, where I attended a one-day NBS workshop sponsored by the Wallace H. Coulter Foundation of the American Association for Clinical Chemistry (AACC) – Early Diagnosis of Biochemical Genetic Disorders Saves Children’s Lives: A Discussion on the Merits and Process to Successfully Implement Newborn Screening. This workshop brought together experts from the United States (Dr. Michael Bennett of The Children’s Hospital of Philadelphia and Dr. Carla Cuthbert of the Centers for Disease Control) and some of the champions for a National NBS Program in India – including members of the various task forces that will ultimately make recommendations about NBS to the government of India.
There was a considerable and robust discussion about the barriers to the development of a national newborn screening program in India – the single largest being the fact that a newborn screening program simply is not a priority for the government of India at the moment. There are many other more-pressing health issues that must be addressed first (reducing the infant mortality rate from communicable diseases, creating a national vaccination program, providing safe drinking water, etc.).
Ultimately the group coalesced around the following three tenets:
- The need to focus on a single condition upon which to base a national NBS program. The program can later be expanded to include more disorders as time and resources allow, but the initial infrastructure should first be built around this one test.
Currently, the leading candidate condition is congenital hypothyroidism (CH) because it is very prevalent in the Indian population (perhaps as high as 1:1000 in neonates according to multiple reports from pilot NBS programs); CH screening tests exist today that are relatively simple and inexpensive to perform; the treatment (levothyroxine) is abundant and inexpensive; and the prognosis for treated neonates diagnosed at birth with CH is excellent.
- Integrating the advocacy efforts of multiple professional societies (e.g., neonatologists, obstetricians, pediatricians, biochemical geneticists), parental advocacy groups, and laboratory professional is key to raising the profile and understanding of the benefits of a national NBS program.
- Creating awareness of the benefits – both health and financial – amongst all stakeholders including, importantly, expectant parents.
No doubt there are significant hurdles to overcome in India and in the rest of the world’s developing healthcare systems, but I believe that the above approach – perhaps appropriately named as a crawl-walk-run philosophy to establishing a national newborn screening program – will ultimately prove successful and the benefits of universal newborn screening will be realized by all.
- Therrell et al. Current status of newborn screening worldwide: 2015. Seminars in Perinatology 2015;39:171-87.
- Therrell and Padilla. Barriers to implementing sustainable newborn screening in developing health systems. International Journal of Pediatrics and Adolescent Medicine 2014;1:49-60.