European Alliance Calls for Newborn Screening

The European Alliance for Newborn Screening for Spinal Muscular Atrophy is calling on all European states to introduce routine screening of all newborns for spinal muscular atrophy (SMA) by 2025.

The recently-formed Alliance, which is composed of European patient organizations, academics, and the pharmaceutical industry, published its first white paper in support of this plan. The paper, “Spinal muscular atrophy: screen at birth, save lives,” is available online.

In recent years, new therapies for SMA have gained widespread approval.  Clinical trial data have demonstrated these treatments can prevent the development of SMA symptoms.

As is the case with many rare diseases, the timing of treatment is critical. The sooner treatment begins, the better the clinical outcome. However, promptly starting treatment requires a timely diagnosis.

Newborn screening, sometimes abbreviated NBS, consists of genetic testing to look for mutations that cause SMA. As the name suggests, NBS is done shortly after a child is born; as such, it can identify children with the disease before any symptoms become apparent.

Newborn screening for some rare health conditions is commonplace, and in the U.S., nearly three in four newborns are tested for SMA. However, although about 1,000 children are diagnosed with SMA every year in Europe, “patients in the vast majority of European countries still lack access to timely diagnosis through newborn screening,” according to the white paper.

It outlines the medical rationale for conducting newborn screening to test for SMA. It emphasizes that early diagnosis can lead to early treatment, which ultimately leads to better health-related outcomes and quality of life — for  affected children, as well as their families.

“NBS will allow for early presymptomatic diagnosis and treatment of SMA patients,” the paper states. “This in combination with the most optimal treatment option has enormous potential to improve a patient’s prognosis to live a life comparable to other children of the same age.”

The paper outlines logistical and economic considerations associated with NBS. For example, it points out that screening for SMA can be incorporated into existing newborn screening methods with relative ease and little cost. NBS also may save money in the long term, since unnecessary costs linked to the SMA and its complications may be avoided by prompt diagnosis and treatment.

Ethical considerations also are addressed in the white paper. For example, it is sometimes argued that people have a “right not to know” about genetic conditions they or their children may have. The paper argues that this does not apply to SMA because of the disease’s severity and the availability of effective treatments: “While not knowing about the child’s disease may give some time to the family — in apparent ‘peace’, it will inevitably lead to a waste of precious time needed to take urgent action to treat and halt irreversible damage when motor neurons can still be preserved, or the deterioration can at least be slowed down significantly.”

The paper notes that the “right not to know” would apply only if parents would not seek treatment for their affected child — a decision that, in itself, may conflict with the child’s right to receive the best possible medical treatment.

Newborn screening also may make healthcare more equitably accessible, and alleviate feelings of parental guilt, the paper asserts.

“In addition to living a long life with a child affected by severe disabilities, parents blame themselves for not having identified the disease earlier, in order to protect their child from developing severe symptoms of SMA,” Marie-Christine Ouillade, the chair of the alliance’s steering committee, said in a press release.

“We will be pressing all national and European institutions to act on our call for SMA newborn screening, as preventing and treating SMA early on saves lives,” said Ouillade, whose daughter has SMA. “This can no longer be delayed. Let’s all strive to ‘Screen at birth and save lives!’”