Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuromuscular disorder affecting more than 1 in 2500 people. Molecular defects that cause CMT are complex and involve large number of genes. This is the first Canadian study describing results of clinical genetic testing of nearly 3000 patients. This is also the largest patient cohort published to […]
Month: May 2020
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
The use of genomic information in the form of polygenic scores as a predictive biomarker for common diseases has been an area of increasing interest. Methods applied in this field have evolved rapidly recently, with several methods proposed in generating these scores. An understanding of these methodological aspects is useful for considerations around implementation in […]
Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time dependent
Predictive BRCA1/2 testing, offered to healthy individuals after a BRCA1/2 gene change is identified in an affected family member, allows relatives to undergo cancer risk assessment and consider early cancer detection and risk-reduction strategies. This study is the largest assessment of BRCA1/2 predictive testing uptake in close relatives, encompassing 5669 individuals from 1564 families, for […]