North Carolina Has Added Three More Conditions to Their Newborn Screening Program

Lawmakers in the U.S. state of North Carolina have expanded the state’s newborn screening testing to include three more conditions. These are Pompe disease, Mucopolysaccharidosis type 1 (MPS 1), and X-linked Adrenoleukodystrophy (X-ALD). The press release can be found at the National MPS Society’s website, here.
Newborn screening tests are carried out on young babies to help identify whether they carry certain conditions. Nearly all newborns in the US are now screened. Typically, the test is done very soon after birth, and a blood spot procedure is the most common method. This involves taking a drop of blood from the baby and running tests on the sample to screen for certain diseases. The decision to expand the North Carolina screening program follows the recommendations of the federal Recommended Uniform Screening Panel (RUSP), which is a list of the conditions recommended for screening, based on factors including whether effective treatments are available for a condition. Most of the conditions on RUSP are screened for by most states.

North Carolina has just included three more of the conditions recommended by RUSP (Pompe disease, MPS 1, and X-ALD) to their screening program. Representative David Lewis says of the change,

“I am proud to be a part of this effort to give every child the best possible chance at a healthy life.”

Newborn screening can lead to huge benefits for children who, as a result of the test, reach a diagnosis at a very young age. The early diagnosis helps children receive treatment very quickly and can significantly reduce the effects of the illness. Often, conditions are far more treatable when identified early on. For example, early diagnosis of X-ALD can help families to access life-saving treatments, such as adrenal steroid replacement therapy as soon adrenal insufficiency develops, and hematopoietic stem cell transplantation (HSCT). HSCT can also be used to treat MPS I and can reduce cognitive decline, heart disease, and hearing loss, amongst other symptoms. Since HSCT may only be effective for a short period of time (in the case of MPS I, before 2.5 years of age), it is crucial to reach an early diagnosis so that the window of time for this treatment can be used.

As a result of medical factors such as these, newborn screening can have a huge impact on a patient’s prognosis. Using the example of X-ALD, one study found that if four million newborns in the US were screened each year for the condition then it is calculated that around 143 children could be diagnosed, compared to the 92 expected to to be identified through clinical care. In addition, the study claims that the prognosis for those diagnosed through newborn screening would also be better; at 15 years old the group that had been diagnosed through clinical care may have approximately eighteen deaths, compared to none in the screened group. Furthermore, the screened group would be expected to have fewer severe outcomes. However, these precise figures are only estimates and are likely to be inexact.

In addition, newborn screening also reduces the number of undiagnosed patients. As mentioned above, in the case of X-ALD, the number of diagnoses is expected to increase by around one third as newborn screening is implemented. This is also similar for other conditions, such as Pompe disease, which, according to this paper, was originally thought to have a prevalence of 1/2,7,800, but newborn screening doubled the prevalence of both infantile and late-onset phenotypes. These changing estimates of disease prevalence also affect the perceived likelihood of the condition. If a condition is found to be more common, then medical professionals are likely to think that it is more likely that a patient has it, and diagnose the patient. This can lead to more adult patients also reaching diagnosis.
In these ways, the decision to add X-ALD, Pompe disease, and MPS I to the North Carolina Newborn Screening Panel is hoped to improve both diagnoses and care for patients with these conditions.

Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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