A5084275741- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Cystic Fibrosis Research Advances
- Neonatal Health and Biochemistry
- Health Systems, Economic Evaluations, Quality of Life
- Ethics in medical practice
- Healthcare Policy and Management
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- Cardiac Valve Diseases and Treatments
- Neuroscience of respiration and sleep
- Connexins and lens biology
- Counseling Practices and Supervision
- Maternal Mental Health During Pregnancy and Postpartum
- Neonatal Respiratory Health Research
- Gastrointestinal Tumor Research and Treatment
- Ethics and Legal Issues in Pediatric Healthcare
- Parvovirus B19 Infection Studies
- Thyroid Disorders and Treatments
- Congenital limb and hand anomalies
- Neurogenetic and Muscular Disorders Research
- Grief, Bereavement, and Mental Health
University of Alberta
2004-2023
Alberta Hospital Edmonton
2014-2023
University of Alberta Hospital
2012-2021
Alberta Health Services
2010-2015
University of Toronto
2005
Health Sciences Centre
2004
The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It hypothesized reciprocal duplications of WBS interval should also occur, here we present such case description. most striking phenotype was severe delay in expressive speech, contrast normal articulation fluent language observed persons WBS. Our...
Congenital heart disease (CHD), comprising structural or functional abnormalities present at birth, is the most common birth defect in humans. Reduced expression of connexin40 (Cx40) has been found association with atrial fibrillation, and deletion Cx40 a mouse model causes various 18% heterozygotes. We screened 505 unrelated CHD cases for deletions duplications gene (GJA5) by real-time quantitative PCR, order to determine whether altered copy number this may be associated cardiac phenotype...
Laboratory genetic counseling is becoming increasingly common as a result of increased laboratory services and testing menus, well growing job responsibilities. Christian et al. (2012) provided the first quantitative data regarding roles laboratory-based counselor (LBGC) finding that two most prevalent are customer liaisons communicators test results. The goal present study was to further delineate role LBGC by addressing specific tasks LBGCs involved with on day-to-day basis. A survey...
An increasing number of genetic counselors are moving into non-clinical roles, where their primary duties do not involve direct patient contact. According to the National Society Genetic Counselors Professional Status Survey in 2010, 23% working roles identified laboratory or testing as area work. Using a survey, we 43 who work predominately settings. The two tasks performed by participants, include acting customer liaison (95%) and calling out test results (88%). Nineteen participants...
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to optimize health outcomes for affected individuals. We developed multiplex quantitative polymerase chain reaction (qPCR) assay using dried blood spot (DBS) samples detection homozygous absence exon 7 SMN1 Newborns who screened positive...
Numerous groups of health professionals have undertaken the task defining core competencies for their profession. The goal establishing is to a defined standard such professional needs as practice guidelines, training curricula, certification, continuing competency and re-entry practice. In 2006, Canadian Association Genetic Counsellors (CAGC) recognized need uniform standards profession in Canada, given rapid progress genetic knowledge technologies, expanding counsellors increasing demand...
C ystic fibrosis (CF) is an autosomal recessive condition caused by mutations in the CF transmembrane regulator (CFTR) gene.It widely recognized that a variable may affect respiratory tract, pancreas, intestine, male genital hepatobiliary system and exocrine sweat glands, resulting complex multisystem disease.It most common life-limiting disorder Caucasian population, with incidence of 1:3200 live births.CF occurs lower frequency other ethnic racial populations (1:15,000 African Americans...
In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) evaluate performance protocol, (ii) explore impact on and acceptability families reporting G6PD deficiency as secondary finding, (iii) assess communication follow-up process positive results. two-tiered increased predictive...
Pancreatic cancer is known to aggregate in some families and has been associated with a wide variety of syndromes. The authors describe their experience pancreatic the range syndromes.The charts all patients seen for concern hereditary syndrome Cancer Genetics Clinic at University Alberta between 1995 2002 were reviewed.Forty reported personal or family history context possible syndrome. Three additional pancreatitis. Twenty-four (56%) those suspected having breast ovarian A further seven...
The expanding number and increasing utility of clinical genetic tests is creating a growing burden on the Canadian healthcare system. Administrators are faced with challenge determining which should be publicly funded. A discrete choice experiment (DCE) was utilized to assess importance stakeholders place five attributes test. One hundred ninety individuals completed DCE questions. Analysis data revealed that medical benefit test had greatest impact respondent's decision select for funding....
The Genetic Resource Center (GRC) is a centralized process for requesting genetic testing that not available within the province (Alberta, Canada). In order to assess potential cost savings associated with this process, all applications received by GRC in 2010 were reviewed, and recorded statistical analysis. Seven areas of identified: (i) negotiated pricing, (ii) laboratory selection, (iii) setup in-province, (iv) duplicate testing, (v) inappropriate (vi) sequential (vii) offered...
Sickle cell disease (SCD), a group of inherited red blood (RBC) disorders caused by pathogenic variants in the beta-globin gene (HBB), can cause lifelong disabilities and/or early mortality. If diagnosed early, preventative measures significantly reduce adverse outcomes related to SCD. In Alberta, Canada, SCD was added newborn screening (NBS) panel April 2019. The primary conditions screened for are sickle anemia (HbS/S), HbS/C disease, and HbS/β thalassemia. this study, we retrospectively...
The field of genetics is evolving rapidly, significantly expanding the number clinically useful genetic tests. cost testing has created an increasing burden on public health care budgets. In Canada, funding bodies have responded by developing independent systems. Key individuals in each province and territory participated a semi-structured interview regarding process their jurisdiction to approve for referred out decision-making criteria. Two themes were identified: importance clinical...
Abstract Background The Society of Obstetricians and Gynecologists Canada the Canadian College Medical Genetics published guidelines, in 2011, recommending replacement karyotype with quantitative fluorescent polymerase chain reaction when prenatal testing is performed because an increased risk a common aneuploidy. Study Objective This study's objective to perform cost analysis following implementation as stand‐alone test. Results A total 658 samples were received between 1 April 2014 31...
To evaluate and compare the performance of recently released Aneufast™ v2 (MolgentixSL) QST*RplusV2 commercial assays (Gen-Probe), both designed for quantitative fluorescent-polymerase chain reaction (PCR) detection common aneuploidies during pregnancy.A series 160 consecutive fetal samples referred rapid aneuploidy testing an additional 25 enriched presence abnormality were selected comparison.To confidently rule out a chromosome abnormality, second round short tandem repeat typing was...