Pathogenic Variants and Genetic Modifiers
DateTuesday, October 2, 2018 - 4:00pm
AbstractThe clinical utility of molecular genetic testing relies on accurate and comprehensive knowledge about the relationships between genes/variants and diseases/symptoms. Correctly interpreting the clinical significance of detected variants continues to be a constant challenge for molecular diagnostic practice. Challenges remain in cases where there is a consensus based on in silico predictors and even validation that the same variants is found in a patient(s) with similar clinical symptoms. One reason for this uncertainty is that single variants do not act alone: interaction among a host of environmental and genetic factors may modify the pathogenic effect of particular variants in different individuals.
Variant Pathogenicity Predictions in Clinical Reporting
AbstractOur genomes contain millions of variable sites and the vast majority are not linked to disease. Determining which sites are damaging is an important goal in clinical genetics. This talk will focus on how in silico pathogenicity prediction scores are used in conjunction with other factors to determine how genetic variants are assessed by clinical laboratories and organized into reports for patients and physicians. We will discuss many reasons annotation can be challenging, as well as the professional guidelines issued by the American College of Medical Genetics and Genomics and their limitations.