Saskatchewan’s newborn screening program being expanded

The Government of Saskatchewan is making some changes to the newborn screening program.

Four medical conditions are being added to the screening programs arsenal administered to newborn babies by the Saskatchewan Health Authority (SHA).

Those conditions are:

• Spinal Muscular Atrophy (SMA), which is a rare neuromuscular disorder caused by a genetic defect that can lead to impaired mobility, swallowing and breathing, and may result in early death;
• Hemoglobinopathies (including Sickle Cell disease), which are inherited blood disorders that affect red blood cells and can cause infections, including life-threatening pneumococcal infections in infants with Sickle Cell disease;
• A marker for hearing loss (Congenital Cytomegalovirus, or cCMV), which is relatively frequent, and is the most common cause of acquired congenital hearing loss; and,
• Severe Combined Immunodeficiency (SCID), which is caused by genetic defects, characterized by the lack of a functioning immune system.

Those four conditions will now be a part of the routine tests done to identify infants with certain medical conditions that could require medical intervention, which in turn can lead to greater opportunities for treatment and supportive care.

The enhanced program will enable families to receive earlier diagnoses and treatment.

Implementation has already started and will be phased in, with full implementation for the four conditions expected to begin later this year.

Those impacted by SMA were pleased to see the enhanced screening getting more acknowledgement in the province.

Lindsay Williamson knows the importance of newborn screening after her son Mason was diagnosed with SMA. They relocated to Saskatchewan during her pregnancy before the screening was expanded.

“Newborns with these health conditions will now be diagnosed much faster with less additional testing, which simplifies the process for families during a stressful situation,” Williamson said in a release. “Now that the province has this newborn screening in place, a diagnosis is immediate which greatly shortens the path to treatment.”

As part of the pan-Canadian Pharmaceutical Alliance, Saskatchewan has reached an agreement for Zolgensma and Evrysdi, two new medications used to treat SMA.

The province will be announcing coverage of these new treatments in the coming weeks, while Spinraza is also currently available as an eligible benefit in Saskatchewan for patients with SMA who meet certain medical criteria.

Muscular Dystrophy Canada CEO Stacey Lintern also was pleased by the government’s decision.

“Muscular Dystrophy Canada applauds Saskatchewan for recognizing that growing evidence shows the profound impact newborn screening has on the quality of lives of children born with SMA and their families,” Lintern said in the release.

“Evidence shows that for children affected by SMA, promising outcomes are possible with a timely diagnosis and early access to specialized care and treatment.”