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Newborns across British Columbia are now being screened for more treatable metabolic diseases and other medical conditions, resulting in early identification and treatment.

The BC Newborn Screening Program, a service of the Provincial Health Services Authority (PHSA), has expanded screening from six to 18 disorders, using the same simple blood sample already collected shortly after birth. Over the coming year, the program will screen about 40,000 newborns in B.C. and will likely identify about 40 babies with one of these 18 treatable conditions. In October 2010, a 19th disorder (congenital adrenal hyperplasia) will be added to the list of screened conditions for newborns. This follows through on a commitment made by Premier Campbell in July 2008 for the additional screening tests.

"This program provides newborn babies in British Columbia with their best chance for a healthy life, right from the start," said Ida Chong, Minister of Healthy Living and Sport. "With specialized treatment, newborns identified with these disorders can avoid serious complications, such as development problems, liver malfunction, brain damage, respiratory problems and even the risk of sudden death."

B.C. began newborn screening in 1964 with provincewide screening for one disorder – phenylketonuria (PKU). Prior to this current expansion, the BC Newborn Screening Program screened for six treatable disorders including PKU, congenital hypothyroidism, galactosemia, medium-chain acyl-CoA dehydrogenase deficiency (MCADD), glutaric aciduria Type I (GAI), and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD).

"Screening for these 18 treatable disorders improves health outcomes for those affected children. These disorders were chosen after a careful review of the medical literature and best practices," said Dr. Hilary Vallance, medical director of the BC Newborn Screening Program, director of the biochemical genetics laboratory at BC Children’s Hospital and BC Women’s Hospital & Health Centre, and chair of the newborn screening advisory committee. "There are no additional steps for families or health-care providers, as the testing utilizes the same few drops of blood taken from the heel of a newborn that has been collected from babies born in B.C. for more than four decades."

"The newborn screening program is an excellent example of the kind of innovation we are striving to develop throughout our health care system," said Wynne Powell, board chair for the PHSA. "New and improved technologies enable earlier identification and treatment of patients, which means our health dollars are used more effectively and efficiently to better support early treatment and help avoid long-term complications that can affect quality of life and be costly to our health system."

Annual operating costs for the expanded BC Newborn Screening program are provided by the PHSA and are approximately $2 million – representing an investment of about $50 for each baby born in B.C. each year.

With the expansion of its newborn screening program, B.C. becomes one of the first jurisdictions in Canada to implement second-tier testing for selected disorders. The second-tier test is currently used to confirm initial newborn test results indicating cystic fibrosis. By late 2010, second-tier testing will also be used to confirm abnormal results for six other conditions.

"I am certain that my 28-year-old daughter Kim would be in better health today had she been diagnosed with cystic fibrosis at birth," said Chris Black, past president of the Canadian Cystic Fibrosis Foundation. "When Kim was born, we endured more than a year of illness and uncertainty before she was diagnosed. I’m thrilled that babies born with cystic fibrosis in B.C. will have a better start in life than Kim did."

The BC Newborn Screening Program, a service of the PHSA, is a collaboration of BC Women’s Hospital & Health Centre, BC Children’s Hospital and the BC Perinatal Health Program, all agencies of the PHSA.