Dartmouth Events

Description:  For the last 40 years karyotyping has been the keystone technology in clinical genetics and despite the addition of supplemental techniques (e.g. FISH, chromosomal microarray) it has remained a front-line test for many diseases due to its relatively low cost, relatively rapid turnaround time and ability to see abnormalities at the single cell level.   The advent of many new technologies, such as genome mapping, short- and long-read sequencing, is creating the conditions for a fundamental paradigm change in cytogenetics.  Dr. Smith will discuss the applications of these technologies and how they will likely change cytogenetics in the near term and longer term.  Multiple recent studies have explored the weaknesses of our current conventional approach that include difficulty in identifying variant or novel rearrangements, miss cryptic rearrangements and the more generalized lack of precision of karyotyping in the context of complex karyotypes.  Ancillary techniques, such as FISH and microarray, have been used to support karyotyping in the detection of problematic and cryptic rearrangements.  However, the number of rearrangements that are therapeutically important, especially in cancer, continues to grow placing economic and workload strain on our current paradigm.  While the idea of an idealized “single test” for the detection of relevant single nucleotide variants, insertion-deletions as well as larger structural variation seems like a nearly attainable goal with our current technology, it remains challenging to implement universally.  With the application of many new structural variation detection approaches we are seeing the beginnings of a “cytogenetics revolution”.   Dr. Smith will discuss the use and implementation of one such technology - Optical Genome Mapping - and how is can replace many current tests in the cytogenetics laboratory for the evaluation of hematologic malignancies.

Bio:  Dr. Smith is currently the Director of the Cancer Cytogenetics Laboratory at the University Health Network.  He is a dual-boarded Clinical Cytogeneticist and Clinical Molecular Geneticist certified by the Canadian College of Medical Geneticists (CCMG).  Dr. Smith is also a fellow of the American College of Genetics and Genomics (FACMG) and a Certified Laboratory Geneticist (erCLG) by the European Board of Medical Genetics.

Dr. Smith completed his Master’s degree in 2000 in the Department of Laboratory Medicine and Pathobiology at the University of Toronto on the Pathomechanism of Costello syndrome. He completed his Ph.D. in the Institute of Medical Science at the University of Toronto unraveling the genetic and epigenetic mechanisms that control growth and cancer development at a locus on human chromosome 11 in the Beckwith-Wiedemann syndrome.