B.C. newborn screening expands; early detection improves quality of life

Press Release

Oct. 12, 2022

VICTORIA – Newborns throughout British Columbia are being screened for three additional metabolic and genetic conditions, resulting in early identification and treatment, and leading to improved health outcomes.

Newborn Screening BC (NSBC), a service of Provincial Health Services Authority (PHSA), is adding three tests to their current panel: severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA) and biotinidase deficiency.

“The importance of a robust screening program is paramount to ensuring the future health of newborns, and NSBC program leaders and their partners continue their commitment to refining and improving the program,” said Adrian Dix, Minister of Health. “With the addition of these three screening tests, our provincial screening program aligns with standards of care across Canada.”

All babies born after Sept. 30, 2022, in B.C. and Yukon, are screened for 27 treatable conditions shortly after birth and on the same blood-spot card. There are no additional steps for families or health-care providers.

For newborns, detecting certain disorders early means less invasive investigation and treatment, along with improved outcomes. More specifically, early detection and treatment of the disorders in the additional screening – SCID, SMA and biotinidase deficiency – has been shown to greatly reduce mortality and improve the quality of life of newborns affected by these disorders. As well, early diagnoses result in reduced costs for assessment, testing and future health care.

“This key advancement in newborn screening services is part of our ongoing efforts to work in partnership with hospitals, care providers, communities and parents to improve the health outcomes of newborns provincewide,” said Ellen Giesbrecht, provincial medical director, Perinatal Services BC.

Newborn Screening BC, a service of the PHSA, is a collaboration between BC Children’s Hospital, BC Women’s Hospital + Health Centre, Provincial Laboratory Medicine Services and Perinatal Services BC, which are all PHSA programs.

Learn More:

To learn more about newborn screening tests on HealthLink, visit: hhttps://www.healthlinkbc.ca/pregnancy-parenting/parenting-babies-0-12-months/newborns/newborn-blood-spot-card-screening

To learn more about newborn screening in B.C. (Perinatal Services BC), visit: http://www.perinatalservicesbc.ca/our-services/screening-programs/newborn-screening-program/

To learn more about the list of disorders screened for in B.C. newborns, visit: http://www.perinatalservicesbc.ca/our-services/screening-programs/newborn-screening-program/disorders-screened

To read the 2009 Ministry and PHSA news release for screening test expansion, visit: https://archive.news.gov.bc.ca/releases/news_releases_2009-2013/2009hls0041-000721.htm

Two backgrounders follow.

Contacts:

Ministry of Health
Communications
250 952-1887 (media line)

Stephanie Stewart
Manager, Communications
Provincial Health Services Authority
Stephanie.stewart@phsa.ca
778 988-3358
PHSA Media Line: 778 867-7472

BACKGROUNDER 1

More about the newborn screening program

Screening tests on newborns are done by taking a few drops of blood from the baby’s heel 24 to 48 hours after birth.
Screening of newborns began in B.C. in 1964 for one disorder: phenylketonuria (PKU).
The program was last expanded extensively in 2008 when newborns began to be tested for 18 disorders from the previous six.
In October 2010, a 19th disorder (congenital adrenal hyperplasia) was added to the list of screened conditions.
Also in 2010, B.C. became one of the first jurisdictions in Canada to implement second-tier testing for selected disorders to improve test performance and reduce false positive results.
Despite the addition of three new screening tests in 2022, no additional blood or additional steps are required for families or health-care providers.
Prior to the addition of the three screening tests, approximately one in every 1,000 infants was detected to have one of the 24 disorders on the test panel. With the three new disorders added to the test panel, one in every 750 infants will be detected to have one of the 27 disorders (approximately 60 infants per year).

About Newborn Screening BC

Newborn Screening BC (NSBC facilitates screening of approximately 45,000 newborns in British Columbia and the Yukon annually. It is a population-based screening program that provides early diagnosis for a range of treatable conditions: http://www.perinatalservicesbc.ca/our-services/screening-programs/newborn-screening-program/

Newborns are screened 24 to 48 hours after birth, either in hospital before discharge, or at home (home birth) to allow for early intervention and improve health outcomes in children. Without newborn screening, affected infants may not otherwise be diagnosed soon enough to prevent serious health problems. For example, later diagnosis of SCID may cause life-threatening infections with increased risk of mortality. For other conditions, early diagnosis and treatment prevents developmental delay and sudden unexpected death.

Early diagnosis and treatment can make the difference between lifelong impairment and healthy development. A comprehensive list of all disorders screened for can be found online: www.perinatalservicesbc.ca/our-services/screening-programs/newborn-screening-program/disorders-screened

Additionally, funding has been provided to develop new program enhancements: the expansion of a quality assurance, surveillance and outreach program to ensure that all B.C. babies are screened in accordance with the program guidelines, and analytical platform consolidation and laboratory information system improvements to update existing equipment and technology.

The Provincial Health Services Authority (PHSA) provides specialized health-care services and programs to communities across British Columbia, the territories of many distinct First Nations: http://www.phsa.ca/our-services

The PHSA is grateful to all the First Nations who have cared for and nurtured this land for all time, including the xʷməθkwəy̓əm (Musqueam), Sḵwx̱wú7mesh Úxwumixw (Squamish), and səlil̓w̓ətaɬ (Tsleil-Waututh) First Nations on whose territory the head office is located. The PHSA works in partnership with other B.C. health authorities and the provincial government to deliver provincewide solutions that improve the health of British Columbians.

For information, visit: www.phsa.ca
Or follow PHSA @PHSAofBC

Perinatal Services BC, a program of PHSA, provides leadership, support and co-ordination for the strategic planning of perinatal (the period of time from pregnancy until a year after giving birth) services in British Columbia. Collaborating with the Ministry of Health, health authorities and other key stakeholders, one of PSBC’s key responsibilities is implementing prenatal and newborn screening programs.

For information, visit: www.perinatalservicesbc.ca
Or follow @PerinatalBC

Contacts:

Ministry of Health
Communications
250 952-1887 (media line)

Stephanie Stewart
Manager, Communications
Provincial Health Services Authority
Stephanie.stewart@phsa.ca
778 988-3358
PHSA Media Line: 778 867-7472

BACKGROUNDER 2

What people are saying about newborn screening expansion

Hilary Vallance, medical director, Newborn Screening BC –

“I’d like to express my sincere gratitude to the newborn screening laboratory team for all their hard work planning and implementing these new tests in accordance with sound screening principles and best lab practices.”

Stacey Lintern, CEO, Muscular Dystrophy Canada –

“Muscular Dystrophy Canada (MDC) is overjoyed that babies born in British Columbia will now be screened for spinal muscular atrophy (SMA). Congratulations to the Government of B.C. on taking this important step that will lead to early diagnosis and treatments that will have life-changing results for individuals and families. Access to the earliest diagnosis will ensure that patients have access to the right treatment and healthcare at the right time, resulting in the best health outcomes for patients.”

Whitney Ayoub Goulstone, executive director, ImmUnity Canada –

“ImmUnity Canada, formerly the Canadian Immunodeficiencies Patient Organization, would like to sincerely express our gratitude to Minister Dix, the Ministry of Health, PHSA, and all those who showed their commitment to the health of newborns born in B.C. by adding Severe Combined Immune Deficiency (SCID) disease to the provincial newborn screening program. With thanks to these changes, any baby born with this rare immune deficiency in B.C. will be diagnosed at birth, offered immediate treatment and therefore increase their chances of survival from 40% to over 90%. This change would not have been possible without the support of the immunodeficiency community, patients and parents affected by SCID and the health-care providers who care for them.”

Dawn Shirley, parent of a child with SCID, Comox –

“Our family was very fortunate that Quinn was diagnosed with ADA-SCID within her first month of life back in 2016. Early detection and treatment gives them the best chance of living a normal and healthy life. We are so thrilled to hear all babies born in B.C. will now be screened for SCID.”

Contacts:

Ministry of Health
Communications
250 952-1887 (media line)

Stephanie Stewart
Manager, Communications
Provincial Health Services Authority
Stephanie.stewart@phsa.ca
778 988-3358
PHSA Media Line: 778 867-7472

Connect with the Province of B.C. at: news.gov.bc.ca/connect

IHT5