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Genomics Medicine Seminar: Advances in variant interpretations through data sharing efforts

Dr Steven Harrison

Clinical Molecular Genetics Fellow Harvard Medical School

1 - 2 pm, Wednesday 1 August 2018

SAHMRI Auditorium, ground floor, North Terrace

Genomic medicine is an emerging field, with genomic testing having only been available in Australia in a limited clinical context since 2015. Despite it's youth, this technology is already quietly revolutionising medicine by providing unprecedented insight into the molecular mechanisms of disease. This allows accurate and rapid diagnosis of complex disorders, informs clinical care and enables the discovery of new therapeutic targets. Although the benefits of genomic testing are already being realised in the clinic, interpreting the hundreds of unique DNA changes or 'variants' identified by a genomic test remains challenging and requires significant domain expertise. Even in this early era of genomic testing it is clear that global collaboration and data sharing are required to fully decode the genome and realise the full potential of this technology.

This seminar, presented by Dr Steven Harrison, will explore the current standards in variant interpretation and provide an insight into how the ClinVar and ClinGen resources are being used to advance the field.

Dr Steven Harrison is an expert in variant interpretation and data sharing. He is currently a Clinical Molecular Genetics Fellow at Harvard Medical School and the Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) and in July 2018 will start as the Associate Laboratory Director of the Clinical Research Sequencing Platform (CRSP) of the Broad Institute of Harvard and MIT. His work focuses on variant interpretation approaches and standardization at both a CLIA- certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines, and the Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team which aims to resolve variants with interpretation differences between clinical laboratories. Steven was the recipient of the 2018 Richard King Award for Best Publication by a Trainee in Genetics in Medicine. He completed his PhD in Genetics & Development in 2014 at the University of Texas Southwestern Medical Center.

Attendance is free, but please register on Eventbrite by clicking here. For inquiries please email: australian.genomics@mcri.edu.au