Including X-linked adrenoleukodystrophy (X-ALD) in newborn screening programs is cost-effective, because early diagnosis lowers care and education costs, and improves the chances of patient survival, researchers from the U.K. report. The study, “Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme” was published in the Orphanet Journal of Rare Diseases. X-ALD is a neurodevelopmental disorder caused by mutations in the ABCD1 gene on the X-chromosome. Early diagnosis is vital for the treatment of ALD. However, not all newborn screening programs include X-ALD. Now, researchers from The University of Sheffield, U.K., assessed the cost-effectiveness of including X-ALD screening in the U.K. National Health Service’s (NHS) existing newborn blood spot screening program. The team used published literature, data on the occurrence rate of X-ALD in the U.K., and statistical estimation to determine how many patients could be identified by including X-ALD in the existing screening program. Results showed that among 780,000 newborns screened each year, around 18 boys will be diagnosed with X-ALD. X-ALD predominantly affects boys, but girls can also inherit the mutation. The study found that if girls are included in the estimation, an additional 17 cases of X-ALD can be identified. There are three types of X-ALD, depending on the age of onset and symptoms: adrenomyeloneuropathy (AMN), cerebral childhood X-ALD (CCALD), and Addison’s disease. The study estimated that of those 18 boys with X-ALD, six are expected to develop AMN, 10 will progress to CCALD, and about three will develop Addison’s disease or remain asymptomatic. Next, researchers estimated the cost burden on the NHS of including X-ALD in the screening program. They found that it will add an extra cost of £402,000 (about $520,000) to the overall cost. But the early detection of X-ALD through screening will provide an overall cost savings of £3.04 million (about $3.9 million) per year, including lifetime health, social care, and education costs. Early diagnosis through newborn screening would also have a positive impact on the life years gained by the patients. Life years gained is a measure of the additional number of years a person may live thanks to a particular intervention; in this case, early diagnosis. The patient’s quality-adjusted life years (QALY) was also assessed. QALY is a measure of health status calculated as the number of life years adjusted to reflect the quality of life in those years. For someone with perfect health, one QALY will be one year of their life. By adding X-ALD to the screening program, both QALY and life years gained per year increased to 82 and 79, respectively, in the overall study cohort. Specifically, an average gain of 8.5 QALY and life year gain of more than eight years were reported per CCALD patients. This increase was attributed to the improvement in patient outcomes thanks to early diagnosis. Overall, the team concluded that newborn screening for X-ALD "would result in an increase in QALYs and a decrease in total discounted health, social care and education costs," especially for those with CCALD. Nonetheless, the team emphasized that future studies are needed to determine "the potential QALY impact of early diagnosis" to fully demonstrate its economic impact.