Effort Afoot to Expand ‘Early Check’ Newborn Screening for Fragile X in the U.S.

Early Check, a free newborn screening program for fragile X syndrome (FXS) that recently began testing in North Carolina, will address the feasibility of implementing an expanded newborn screening for fragile X to other states.

The program and the current practice for the early identification of fragile X, were the main topics of a recent review study.

The report “Early Identification of Fragile X Syndrome through Expanded Newborn Screening” was published in the journal Brain Sciences.

Despite the increasing research on fragile X over the past two decades, there has been little improvement regarding ways to identify the disease earlier.Currently, diagnosis is made on average at the age of 3, typically after the beginning of developmental delays.

“For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth,” researchers explain.

Several solutions have been proposed to reduce the delay in diagnosis, including maternal testing, combined genetic testing with universal screenings for developmental delays, and prenatal testing.

But newborn screening (NBS) has gained particular attention as the solution with the greatest potential to reach most of the population. However, there are barriers that prevent the inclusion of fragile X on standard newborn screening panels such as the American Recommended Uniform Screening Panel (RUSP).

For a disorder to be included on this panel it must meet a set of requirements, including overall benefit of screening, feasibility and current readiness for state-level implementation (e.g., validated screening assays, state health laboratory capacities).

So, a team of researchers, clinicians, public health professionals, advocacy groups, universities, and state institutions joined to create Early Check — a program designed to identify two rare conditions not included in RUSP —  fragile X syndrome and spinal muscular atrophy (SMA).

Early Check offers voluntary screening to all parents in North Carolina. Under a research protocol led by RTI International, one of its major goals also is to evaluate the benefits of an early diagnosis and promote greater understanding of natural history of these conditions.

The program also intends to overcome the barriers impeding the large-scale implementation of NBS for these two conditions.

Rooted on the expertise of this multidisciplinary team, Early Check will work as a test run for concepts and procedures at several steps of the way including recruitment, enrollment, lab testing, and follow-up phases.

Specifically, it will address the practicality and feasibility of affordable screening tests using dried blood spot tests (heel prick test), and efficient follow-up practices that connect individuals and families to interventions and treatments, as well as clinical trials, researchers explained.

The standard operating procedures (SOPs) developed in the context of this large-scale implementation will provide important information on quality control measures and other indicators that other states can use “in a future appraisal of their readiness to implement NBS for FXS [fragile X syndrome]” researchers wrote.

Also, it will convey access to pre-symptomatic infants (before symptom onset) and their families and a long-term follow-up and natural history “that can inform future treatment approaches” they added.

With the growing recognition of the importance of early interventions, including therapies, psychoeducational and behavioral techniques, these efforts may lead to a paradigm shift “and could impact NBS policy for future generations,” researchers concluded.

Early Check was launched in October 2018. For more information on the project click here.