BCCGN connects clinical investigators with experts specializing in the application of ethics, statistics, bioinformatics, epidemiology in genetics and genomics. We are also able to facilitate access to additional BC resources including databases that correlate genotypic and phenotypic characteristics, comprehensive patient information databases and experts who can assist in understanding how new discoveries can best be applied within the healthcare system.
Clinical Phenotyping Read more… The Provincial Medical Genetics Program is one of the largest, most comprehensive, and highly-skilled clinical genetics services in North America. Clinical investigators associated with the Program have extensive experience in clinical phenotyping and genotype-phenotype correlations. These investigators are anxious to collaborate with clinical investigators in other specialties to phenotype patients for genomic studies.
Clinical Databases and Data Management Read more… Clinical investigators in BC have developed and maintain specialized clinical databases that have been used for genotype-phenotype correlations in a variety of conditions including Huntington disease, neurofibromatosis, inborn errors of metabolism, immunodeficiency diseases, chromosomal abnormalities, lipid disorders, hereditary cancer syndromes, and multiple sclerosis. Some of these databases are considered models that have been emulated throughout the world. This expertise can be used to help in the development of new disease-specific databases for genomic studies.
Clinical Research Ethics and Consent Read more… The BCCGN provides a set of ethics guidelines, patient consent forms and other materials developed expressly for genetic and genomic studies by the Canadian Molecular Cytogenetics Platform (CFI-funded national research network) and others. These materials have been developed by internationally-recognized experts in informatics governance and ethics related to genomic research. In addition, the BCCGN team includes a genetic counselor with extensive research background and experience in navigating the ethics approval and privacy impact assessment processes in BC’s universities, research institutes, and health authorities.
Genetic Study Methodologies Read more… Rigorous experimental design of contemporary genetic studies presents unique problems that lie outside the expertise of most biostatisticians and epidemiologists. A key component of the BCCGN is providing support in the areas of genetic study design. The BCCGN has assembled a Methodology and Statistics Advisory Group of experts from throughout British Columbia who will help to develop statistical and methodology support resources, protocols and guidelines within this area. These scientists will also train graduate students and postdoctoral fellows in genetic study design.
Bioinformatics Read more… Advances in genomic technologies have led to an explosive growth in the biological information generated in each experiment. These genomic data have, in turn, led to a requirement for computerized databases to store and organize the data and for advanced statistical and other computational techniques for data visualization and analysis. Bioinformatics provides tools to distill large data sets into a manageable and informative form. Examples of where bioinformatics is used include the assembly of high-quality genome sequences from fragmentary “shotgun” DNA sequencing, the detection of significant copy number changes on microarrays, the search for genes or regulatory sequences, or the analysis of gene expression profiles.
Genetic Epidemiology Read more… The scope of genetic epidemiology includes identifying single gene and complex disorders and locating the responsible genes. Through its network of experts, BCCGN can assist researchers study the role of genetic factors in determining health and disease in families and in populations including (i) familial aggregation studies that aim to identify if there is a genetic component to the disease, and what are the relative contributions of genes and environment; (ii) segregation studies to determine the pattern of inheritance of a disease (e.g. dominant or recessive); (iii) Linkage studies to discover on which part of which chromosome a disease gene is located; (iv) Association studies to identify which allele of which gene is associated with a disease.
Statistical Analysis of Genetic and Genomic Data Read more… Specified genetic study designs and very large data sets require specialized approaches to statistical analysis. BCCGN can provide expert advice on study design, sample size and power calculations, as well as statistical analysis of genetic study data and genetic interpretation. The types of data sets that can be analyzed include those generated from (i) microarray gene expression studies from various platforms; (ii) copy number variation studies, including identifying regions containing copy number changes, control of false positives and negatives, data pre-processing, normalization and integration across platforms (iii) genetic analysis, such as genetic mapping of single gene and complex disorders, association studies and the estimation of haplotypes in related or unrelated individuals.
Health Technology Assessment … Read more… BCCGN will assist investigators to examine the sensitivity, specificity, and clinical utility of new genomic diagnostic and prognostic technologies, and determine whether their routine use will benefit patients by improving disease outcomes, quality of life, and cost-effectiveness of treatments. Pre-implementation field studies will be used to determine issues related to uptake and integration into routine clinical care, including acceptability to clinicians and patients, and the ease of ordering and interpreting the data.