NWT RESEARCH DATABASE

Regions: North Slave Region

Tags: health, genetics, children's health, blood testing

Objective(s): The goals of this proposed study are: (1) To determine how common a particular genetic change, known as the P479L variant, is in NWT (2) To determine 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 public health measures are needed in NWT in order to help prevent infantThe goals of this proposed study are: (1) To determine how common a particular genetic change, known as the P479L variant, is in NWT (2) To determine 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 public health measures are needed in NWT in order 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. There are two parts to this project: (1) All blood spots routinely collected from babies born in NWT between January 1, 2006 to December 31, 2006 will be retrieved from the Newborn Screening Program in Edmonton and tested for the P479L variant at the University of Manitoba. The researchers anticipate a sample size of approximately 700 births. The newborn blood spots will be anonymized - 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. (2) All infants (up to one year of age) who died unexpectedly (from infection or unknown cause) in NWT between 1999-2007 will be identified. It will be requested that the blood spots from these infants be retrieved from the Edmonton Newborn Screening Program and forwarded to Dr. Greenberg's lab for P479L analysis (U of Manitoba). No patient names will be given to the researchers (samples would 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 results of this study will be communicated directly to Dr. Andre Corriveau, Chief Medical Officer of Health, and the Chief and Deputy Coroners of NWT. If the study reveals that the P479L variant is associated with a significant increased risk of infant death, it may be important for the health officers in NWT to initiate public health measures including community education and/or newborn screening. The only portion of this study that will be carried out within NWT is the identification of cases of unexplained infant death. These blood spots will be tested in Winnipeg and data analysis will be based in Victoria. Fieldwork will be conducted from November 12 to December 31, 2007.

Project Description: The goals of this proposed study are: (1) To determine how common a particular genetic change, known as the P479L variant, is in NWT (2) To determine 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 public health measures are needed in NWT in order 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. There are two parts to this project: 1. All blood spots routinely collected from babies born in NWT between January 1, 2006 to December 31, 2006 will be retrieved from the Newborn Screening Program in Edmonton and tested for the P479L variant. The researchers anticipate a sample size of approximately 700 births. Testing for the P479L variant will be performed at Dr. Cheryl Greenberg’s Newborn Screening Lab at the University of Manitoba, as she has particular expertise in genetic testing for this disorder. The newborn blood spots will be anonymized - 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. 2. All infants (up to one year of age) who died unexpectedly (from infection or unknown cause) in NWT between 1999-2007 will be identified by Percy Kinney, Chief Coroner, and Cathy Menard, Deputy Chief Coroner of NWT. The Chief Medical Officer of Healthy/Epidemiologist in the NWT will then request that the blood spots from these infants be retrieved from the Edmonton Newborn Screening Program and forwarded to Dr. Greenberg’s lab for P479L analysis. No patient names will be given to the researchers (samples would 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. No individual results will be communicated, given that this is an anonymous study. The results of this study will be communicated directly to Dr. Andre Corriveau, Chief Medical Officer of Health, and the Chief and Deputy Coroners of NWT. If the study reveals that the P479L variant is associated with a significant increased risk of infant death, it may be important for the health officers in NWT to initiate public health measures including community education and/or newborn screening. In the event of significant results, community education about the prevalence of P479L and strategies to help reduce the risk for infant death will be important. The only portion of this study that will be carried out within NWT is the identification of cases of unexplained infant death. The Chief and Deputy Coroners of NWT, located in Yellowknife, will be responsible for identifying any unexplained infant deaths between 1999-2007 and requesting release of these (anonymized) bloodspots from the Edmonton Newborn Screening Program. Again, these blood spots will be tested in Winnipeg and data analysis will be based in Victoria. Fieldwork will be conducted from November 12 to December 31, 2007.