Bridging Equity Gaps in Newborn Screening: Reflections on X-Linked Adrenoleukodystrophy (X-ALD) and Policy Implications for the Global South

Dear Editor,

The recently published article, “Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky,” ¹ offers crucial insights into the emotional, logistical, and clinical complexities surrounding newborn screening (NBS) for rare conditions such as X-ALD. This study, though conducted in two U.S. states, carries global significance—particularly for countries in the Global South that are strengthening their public health infrastructures to support early diagnosis and intervention. As scholars and health advocates based in the Philippines, we write to contribute to the discourse by contextualizing these findings within the broader narrative of newborn screening development and policy in low- and middle-income countries.

The study by Iyer et al ¹ underscores the dual realities of parental gratitude for early detection through NBS and the challenges encountered in the diagnostic and referral journey. The themes of confusion, fear, and lack of information resonate with the lived experiences of families globally, especially in settings where health literacy and specialized care access are still developing. Notably, while parents appreciated the role of NBS in identifying X-ALD, their concerns about poor communication, delays in accessing specialized care, and the emotional burden of early medicalization reflect gaps in both system design and health service delivery.

Newborn bloodspot screening (NBS) is one of the most successful public health interventions to emerge in the last century. Since the seminal work of Guthrie and Susi ² which introduced phenylketonuria screening via heel prick testing in the U.S., NBS has expanded dramatically worldwide. The Philippines began its own NBS program in 1996 as a research initiative, culminating in the passage of the Newborn Screening Act in 2004 which mandated its nationwide implementation. Initially screening for only 5 conditions, the program has since evolved to include a comprehensive panel of 29 conditions. ³ Despite this remarkable progress, many challenges persist, especially in rural and underserved regions where access to follow-up care, specialist consultations, and continuous monitoring remains inadequate.

It is worth noting that while developed countries have rapidly integrated new conditions such as X-ALD into their NBS panels, countries in the Asia Pacific region—including the Philippines—are only beginning to confront the technical and policy complexities of screening for rare, late-onset disorders. Historically, NBS in Asia developed in uneven waves, first in places like Taiwan, Hong Kong, and Malaysia during the 1980s, followed by more rapid uptake in the 1990s and 2000s in countries like Korea, Thailand, and the Philippines.^4,5 As of today, some nations in the region are still in the nascent stages of establishing their own programs.

The insights offered by Iyer et al ¹ on the psychosocial impact of screening, particularly the anxieties faced by parents upon receiving an unexpected diagnosis, should serve as a valuable reference for countries contemplating the inclusion of X-ALD and other rare diseases in their NBS panels. In contexts like the Philippines, ensuring that families receive timely, culturally sensitive counseling, and streamlined referrals must be as high a priority as the technical implementation of screening technologies. Otherwise, even well-intentioned programs may inadvertently contribute to emotional distress or feelings of abandonment.

Policy formulation in the Global South must also factor in resource constraints, geographic barriers, and health workforce limitations. In the Philippine setting, challenges are compounded by logistical constraints in transporting specimens, shortages of trained specialists, and variable levels of awareness among primary care providers, similar to what was described in the U.S.-based study regarding the lack of PCP knowledge on X-ALD. Such parallels suggest that despite differing resource levels, there are shared global challenges in NBS implementation that call for cross-country learning and collaboration.

To address these challenges effectively, it is essential for the Philippine NBS program and its counterparts in the Global South to be supported by sustained investments in health systems strengthening, community education, and human resource development. Moreover, embedding psychosocial support mechanisms within the NBS process, from the point of screening to long-term management, should become standard practice. The success of an NBS program must not only be measured by the number of conditions screened but by the quality of care and dignity afforded to families navigating life-altering diagnoses.

Further research is warranted to assess the readiness of countries like the Philippines to expand their NBS panels to include X-ALD and similar rare conditions. This includes evaluating health systems’ capacity to provide multidisciplinary care, availability of referral centers, and community-based support systems. Pilot programs could help identify implementation bottlenecks while providing critical data to guide policy. Engagement with parent support groups, genetic counselors, and frontline health workers will also be vital in shaping a more empathetic and inclusive NBS landscape.

In closing, early diagnosis is only one part of the continuum of care. For countries in the Global South, especially the Philippines, the evolution of NBS must be grounded in equity, compassion, and a commitment to ensuring that every child—regardless of condition or geography—has the chance to achieve their full potential. Let us take this opportunity to learn from global experiences and translate them into locally responsive, family-centered policies that uphold the right of every newborn to a healthy start in life.