Bryony Thompson: 'I hope participants will gain a better understanding of the challenges variant curators face when trying to interpret functional assay evidence in the process of variant classification.'
(Editor’s Note): Bryony Thompson, Ph.D., the lead genomics clinical scientist in the Department of Pathology at The Royal Melbourne Hospital, is one of the featured presenters at the Ninth Annual Mutational Scanning Symposium, March 27 through 27 in Melbourne Australia. 2026. She received her doctorate in Medical Sciences from the University of Queensland and completed postdoctoral training at the University of Utah in the United States. Thompson has extensive expertise in gene and sequence variant curation across various diseases. Visit the symposium website for a complete list of speakers and the agenda.)
What or who (or both) inspired you to pursue a career in science?
Admittedly I've not considered in-depth what inspired me to pursue a career in science. I cannot articulate what inspired me. It felt like an inevitability and that I've been in the right place at the right time, with the capability to succeed in science.
Why did you agree to speak at the symposium?
I thought it would be a good opportunity to provide the perspective of a clinical scientist in a diagnostic laboratory. I think it is important to have representation from the individuals who "translate" mutational scanning data into the clinic through its use in sequence variant interpretation. It also provides me with the opportunity to ask for a wish list from mutational scanning researchers to make my life easier when it comes to functional assay interpretation.
What is the topic of your presentation?
The lessons learned from the application of functional data in clinical variant classification. I aim to provide the perspective of a stakeholder who uses functional assays evidence in day-to-day variant curation and the challenges that can arise from the interpretation of this evidence. This is from the perspective of the pathology department of one of the largest adult hospitals in Australia where the genetic testing covers a variety of conditions.
What do you hope symposium participants will learn from your presentation?
I hope participants will gain a better understanding of the challenges that variant curators face when trying to interpret functional assay evidence in the process of variant classification. Particularly the priorities in variant classification in a diagnostic laboratory, such as the benefits of highly weighted pathogenic evidence. I hope to highlight some considerations for researchers that generate mutational scanning data to ensure the best clinical application of this evidence.
Are there any speakers you are looking forward to hearing from and why?
There is no particular speaker I'm looking forward to. The program of speakers looks fantastic. I'm looking forward to expanding my knowledge and understanding of mutational scanning. I hope to bring back lots of new knowledge that I may be able to apply in my variant classification.
