Newborn Screening BC Program

As any parent knows, it’s incredibly difficult to find out your child has a medical condition. However, the relief of having it identified early and receive treatment that prevents further complications is immeasurable. 

The Newborn Screening BC Program, delivered by Provincial Laboratory Medicine Services (PLMS) with oversight from Perinatal Services BC (PSBC) and Provincial Health Services Authority (PHSA), conducts tests for treatable disorders on virtually all newborns in BC and the Yukon, approximately 45,000 each year. The simple objective of the program is to improve health outcomes through early detection of treatable conditions in newborns. Newborn screening save lives, prevents intellectual disability and other health problems that would otherwise occur without early detection and treatment. 

Approximately one in 900 infants is detected to have one of the 27 disorders on the test panel. These children receive treatment and avoid complications of the conditions. This provides quality of life for families and long-term cost savings to the medical system. 

“Using the power of collaboration, breaking down silos to innovate, two programs worked together to achieve profound outcomes for our pediatric population,” says Brenda Jackson, Senior Executive Director for PLMS. 

In September 2021, the Ministry of Health requested that PHSA provide a business case for screening for three additional treatable conditions in newborns: severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA) and Biotinidase Deficiency. It was anticipated that the addition of these new screening tests meant that five to seven additional infants would be identified annually, allowing for early intervention and avoiding the potentially severe outcomes of these conditions. 

PSBC, a PHSA Health Improvement Network, and PLMS worked together to develop the business case, which was approved in April 2022. The teams then began implementing the new screening protocols under accelerated timelines, with the expanded testing program successfully launched in September 2022. 

In order to successfully implement the new screening protocols, the teams had to collaborate to develop innovative approaches to make the best use of existing resources and identify any gaps in a short time. The teams worked closely and under a tight timeframe, developing a project steering committee with representatives from PSBC, PLMS and BC Women’s & Children’s Hospital (BCCH). Historically, distinct teams in PHSA might work in silos despite aiming to achieve the same goal. In this instance these groups joined forces as collaborative partners, enabling effective resource sharing and innovative thinking to achieve the necessary implementation, and bringing dynamic synergy to the planning process. PHSA’s Transformation Leadership Office (TLO) provided project and change management support throughout the journey.  

The team created efficiencies by consolidating analytical platforms and improving the Laboratory Information System (LIS). Specifically, the expanded screening assays use existing technologies and systems already used in the sampling of the blood spot cards for existing screening. In addition, replacing some equipment and technology that was at the end-of-life provided the ability to accommodate the additional screening of the three disorders, as well as benefit from capital cost, maintenance and labour savings. 

A prime example of the effective use of resources and innovative thinking exhibited by the team is the newborn screening for SMA. It represents a partnership between the newborn screening laboratory and the division of Genome Diagnostics (GD) at BCCH. Part of the SMA screen involves the analysis of a modifier gene (SMN2) that impacts prognosis for the infant. Testing for that modifier gene already existed in the GD Division; rather than duplicate efforts, the GD team validated their existing assay on newborn dried bloodspots allowing for them to complete this testing as part of the screening process. Given that this result is a requirement of access to therapy, this internal partnership has allowed for a rapid verification of the screening results, improving time to therapy which is critical for this condition. 

SMA is the most frequent genetic cause of death among children before the age of two but recent advances in genetic therapies are dramatically improving outcomes for affected infants. With an incidence of 1/11,000, approximately four to five affected infants are born with this disorder each year in BC. The ministry now funds treatment for SMA types I and II (SMN2 copy number 2 or 3) with remarkable improvement in health outcomes. In the time since newborn screening for the three new conditions went live, eight infants have been identified with SMA and received timely clinical intervention at the crucial asymptomatic stage.   

Without this expanded testing, detection of these diseases would not have occurred until much later when these children became symptomatic, often past the window for effective therapy and treatment.   

The same benefit is already being seen with SCID newborn screening, as well. SCID is a life-threatening disease of infants caused by a heterogeneous group of genetic defects that prevent normal development of immune cells called T-cells. Infants with SCID are typically well at birth as they are protected by maternally derived antibodies. As this immune protection decreases during the first few months of life, there is increasing susceptibility to a variety of serious infections. SCID is fatal without attempts to correct the underlying deficiency, either through transplantation or enzyme replacement therapy. Treatment has been shown to greatly reduce mortality (35 per cent mortality with clinical ascertainment versus less than 10 per cent mortality with newborn screening). In addition, morbidity is greatly reduced with early detection. 

“Newborn screening for SCID has been life-changing for affected infants and their families,” says Catherine Biggs, Medical Lead for Immunology at BCCH. “This program has allowed us to identify infants with serious T-cell conditions before they develop infections or other signs of illness, giving these children the best chance at a healthy life.” 

In only the first year of newborn screening implementation, decreased rates of serious illness and improved health outcomes of babies born with SCID, SMA or Biotinidase Deficiency is already coming to fruition. Since newborn screening for the new conditions went live, 16 infants have been identified and received a clinical intervention as a result of these three screening tests. 

“The addition of these three tests has made possible the ability to quite literally change the lives of babies born in our province for the better, from day of diagnosis forward,” says Ellen Giesbrecht, Provincial Medical Director of PSBC. “Early screening, diagnosis, and intervention is critical to improve the quality of life of babies and their families in BC.”