On Rare Disease Advisor, we periodically highlight the real cost—psychological, social, and financial—of living with a rare, chronic, and incurable disease. We have prominently featured the perspectives of brave individuals with these very illnesses and are constantly inspired by their example in carving out a life that is full of joy and meaning, despite the obstacles that come their way. 

In the field of public health, it is a question that never goes away—how do we reduce the disease/treatment burden of patients with rare conditions? On an institutional level, how do we ensure that patients receive the very best care at the lowest possible cost to the public? How do we ensure the welfare of family members and caretakers who selflessly devote so much of their time to care for individuals who are unwell? 

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Many believe that the most sound way to achieve these goals is to detect diseases early and treat them as aggressively as possible. The goal is to ensure that the very worst manifestations of the disease are avoided and that further, potentially life-shortening damage is halted. 

In Developmental Medicine & Child Neurology, Dangouloff and colleagues sought to investigate the impact of the spinal muscular atrophy (SMA) newborn screening program. The severity of SMA is largely determined by the number of SMN2; physicians can usually anticipate an individual’s level of disability based on their genetic information. 

It was only a few years ago that a slew of new drugs were approved for use in SMA. This process involved numerous clinical trials that have proven that they are safe and efficacious. Nevertheless, these drugs are very expensive. Although studies indicate that the initiation of these drugs prior to the development of symptoms may improve long-term outcomes, some patients and their families simply do not have a favorable view of the cost-to-benefit ratio, especially at the presymptomatic stage. 

The research team collected information regarding treatment outcomes via a number of questionnaires completed by either the patients or their guardians. They included questions on motor capacity, hospitalization frequency, ventilation, and health status. For participants under 18 years of age, questions of medical and cost data were completed by their parents. These questionnaires were presented to participants to be filled out during planned hospital visits or contact with researchers. 

Dangouloff et al hence sought to characterize the outcomes between treated and untreated patients with SMA. They conducted a prospective study of 81 patients with SMA recruited across Belgium, France, and Germany. They also looked at another prospective study in Belgium. All patients, regardless of age, had a genetic diagnosis of SMA. 

As anticipated, the research team found that the cost of treatment was extremely high for both participants and their carers. However, they also highlighted an important point regarding healthcare that rarely receives attention: indirect costs. These include opportunities lost because of an inability to work; the research team found that the average loss of productivity in southern Belgium for an individual with an annual full-time working salary was a staggering 253 days. In addition, patients and their families needed to spend money on additional resources to facilitate healthcare, such as domestic help, adapted accommodation, and transportation.

The medical costs of untreated patients were lower than treated patients due to the high costs of drugs used in treating SMA. In addition, Dangouloff and colleagues discovered that the estimated newborn screening cost for identifying 1 patient was good value for money; according to them, “newborn screening is clearly cost-effective.” In addition, patients identified via newborn screening had better motor development and ultimately lower medical and nonmedical costs compared to patients who were only later identified symptomatically. 

Detecting Diseases Early

Most studies investigating the merits of newborn screening have found them to be a viable, sensible public health policy that saves costs in the long run. For comparison, in the Journal of Clinical Medicine, Neumann and colleagues conducted a study on the value of newborn hearing screening. Pediatricians place particular importance on newborn hearing screening because it is difficult to assess the hearing ability of an infant without external help; it is only when they grow a year or 2 older that hearing impairment becomes apparent. 

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According to Neumann and colleagues, around 8% to 10% of newborns have some form of hearing impairment. The research team strongly advocated for newborn screening services across the globe because “early intervention accompanied by measures . . . has been shown to be effective, cost efficient, and an excellent investment of resources.” 

Medicine is a long game. In order to give our patients the best chances to thrive in the future and define their lives on their own terms, we need to give them the best possible start in life. That means expanding common-sense newborn screening programs to all parts of the world. By sowing into these important programs, we will collectively be reaping the benefits of healthy and productive individuals who will have the opportunity to play their part in impacting the world for good. 


Dangouloff T, Hiligsmann M, Deconinck N, et al. Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screeningDev Med Child Neurol. Published online June 8, 2022. doi:10.1111/dmcn.15286

Neumann K, Mathmann P, Chadha S, et al. Newborn hearing screening benefits children, but global disparities persistJ Clin Med. Published online January 5, 2022. doi:10.3390/jcm11010271