Nov 15, 2023

Developments in Genome Analysis: A Recap

Event News
Copy of Developments in Genome Analysis 2023
By Teresa Brooke-Lynn Coe and Rushil Dua

On November 7, 2023, the MoGen Department held the Developments in Genome Analysis conference, bringing together current students, MoGen alumni, and experts in the field.  Organized by Medical Genomics professors, Drs. Martina Steiner and Johanna Carroll, and Genetic Counselling professor, Stacy Hewson, the conference aimed to provide current expert opinion on genome analysis and medical genetics in both research and clinical applications. With around 100 attendees, it boasted two keynote speakers, six spotlight talks, and a panel discussion. Among these presentations, three key themes emerged, including data sharing, moving beyond DNA, and diversity and accessibility. 

Dr. Fritz Roth talking during his presentation
Dr. Fritz Roth presenting on Towards a Contextual Atlas of Variant Effects

Theme 1: Data Sharing in Genomics

Dr. Lerner-Ellis began the day discussing Canadian genomic databases and the need to have a more “distributed network to ensure the data generated is useful across Canada.” This push towards open and accessible sharing models was a common idea among many other speakers and participants as well. Keynote, Dr. Arbour further expressed the need for sustainable infrastructure to ensure effective data sharing, and thus, improved healthcare for all. Overall, the conference highlighted the need to increase data sharing both nationally and globally to streamline the research, development, and practice of genomic medicine.  

Dr. Tomi Patinsen talking during his presentation
Keynote Speaker Dr. Tomi Pastinen on The Impact of HiFi Sequencing on Diagnoses and Variant Discovery

Theme 2: Moving Beyond DNA in the Clinic

Another key theme was bringing in new technologies and data to improve diagnosis and treatment. Drs. Shlien and Deshwar discussed the massive utility of RNA-sequencing in paediatric cancer diagnosis/treatment and in rare disease diagnosis, respectively. Dr. Masud reinforced the utility of non-coding regions by discussing a deep learning model that can predict regulation changes from DNA data, which can be used to investigate novel drug targets. Keynote, Dr. Pastinen then discussed the clinical value of long-read sequencing to better assess cases with expansions, methylation changes, mosaicism, and more. These talks highlight the power of these technologies and the need to continuously bring new technologies into the clinic. 

Theme 3: Diversity and Accessibility in Genomic Healthcare

Keynote, Dr. Laura Arbour shared her insights into Indigenous representation in genomic data. She discussed how groups like The Silent Genome Project are ensuring populations are fairly represented, saying “those with the greatest needs have the least access.” Panelists further highlighted the importance of diversity in genomic medicine and what the health system can do to better support patients. Dr. Hanna Faghfoury spoke passionately about inequities in the healthcare system and how it is often those who require long-term genetic care that are unable to afford it. She further elaborated that there is a burden on patients to manage their own healthcare, something that many patients may not be able to do, and concluded discussing how the number of barriers between the patient and accessing healthcare must be limited. Genetic Counsellor, Kim Amburgey, mirrored Dr. Faghfoury’s beliefs, stating that advancing healthcare is not something that can be done in isolation, rather that “we can’t do this alone, it’s a partnership with patients”. 

Panelists, including: Dr. Hanna Faghfoury, Dr. Rebekah Jobling, Jordan Sam, Kim Amburgey, and Dr. Ashish Deshwar. Moderator: Stacy Hewson
Opportunities and Challenges of Genomic Medicine panel discussion. Panelist (left to right): Dr. Hanna Faghfoury, Dr. Rebekah Jobling, Jordan Sam, Kim Amburgey, and Dr. Ashish Deshwar, with moderator Stacey Hewson

Thank you to the organizers and speakers for their contribution to the conference’s success and thank you to the volunteers who made this conference possible. The proceedings provided excellent insights into what conversations are needed in this space, bridging the gap between clinical and academic genomics. This work paves the way for growing the world of genomic medicine. 

Picture credit: Teresa Brooke-Lynn Coe, Rushil Dua, Azin Keshavarz, Farah Shah