NWT RESEARCH DATABASE

Regions: North Slave Region

Tags: health, children's health, blood testing

Objective(s): The goals of this study are: 1) to learn how common a particular genetic change, known as the P479L variant, is in NWT; 2) to learn whether the P479L variant is associated with an increased risk for infant death and 3) to share results with the Medical Officers of Health and appropriate community and public health representatives in NWT to determine whether newborn screening for the P479L variant and/or other public health measures are needed in NWT to help prevent infant deaths.

Project Description: This license has been issued for the scientific research application #933. The goals of this study are: 1) to learn how common a particular genetic change, known as the P479L variant, is in NWT; 2) to learn whether the P479L variant is associated with an increased risk for infant death and 3) to share results with the Medical Officers of Health and appropriate community and public health representatives in NWT to determine whether newborn screening for the P479L variant and/or other public health measures are needed in NWT to help prevent infant deaths. This proposed study does NOT involve any client/family contact. Also, this project does NOT involve the collection of any new blood samples. It is a retrospective, anonymous study that will use blood spots routinely collected from babies born in NWT between January 1, 2006 to December 31, 2006. About 700 of these blood samples will be tested for the P479L variant. Testing for the P479L variant will be performed at the BC Provincial Newborn Screening Program at the BC Children's Hospital, as they have the resources and expertise to test for the P479L variant. The newborn blood spots will be anonymized and as such, the researchers involved will NOT be given any patient names (samples will only be identified by anonymous identifiers). The prevalence of the P479 variant in various regions of NWT will be determined by this study. The other aspect of this test will involve Coroner’s office identifying infants that died from infection or unknown causes and their blood spots being analyzed for P479L. No patient names will be given to the researchers (samples will only be identified by anonymous identifiers). The proportion of infant deaths with the P479L variant will be compared to the prevalence in the general population, to determine if there is an association between unexpected infant death and having two copies of the variant. The study will be conducted from January 01 to December 31, 2009 It is important to note that NO NWT residents will be contacted by the researchers and NO new blood samples will be collected for this retrospective, anonymous study. The Coroner’s Office will be involved with releasing the appropriate blood samples.