Last week (27 – 30th October 2020), the American Society of Human Genetics (ASHG) hosted their annual meeting. The meeting had a wide range of talks and discussions on the emerging trends and technologies that are transforming science.
With the ongoing pandemic, virtual is the new normal. While everyone is looking forward to a day where we can all meet again in person, virtual events like ASHG present a great opportunity for individuals to come together, share their findings and lessons learned.
A ‘big tent’
Since the completion of the Human Genome Project in 2001, the genomics field has rapidly expanded. Technology has advanced and our understanding of genomics and its impact on health has deepened. This has led to the widespread integration of genomic methods and techniques across life sciences and, most importantly, into medicine and society. Nonetheless, several challenges still remain. These include developing data-science capabilities, improving implementation of genomic medicine and also considering societal implications (such as social inequities).
The ASHG kicked off their event with a presidential address from Dr. Anthony Wynshaw-Boris, Professor, CWRU School of Medicine. During his talk, Wynshaw-Boris addressed several challenges that have arisen this year. These included the COVID-19 pandemic and the ongoing issues of racism, health disparities and economic disparities. Additionally, he discussed how the growth of misinformation and a mistrust of expert scientific opinion has impacted our ability to address these challenges. He expressed how the ASHG can provide a “big tent” that accommodates the entire genomics community (no matter the circumstances) and encourages action for change!
On the first day, there was a series of talks on personalised medicine approaches in healthcare. The first talk was from Dr. Anita Villani, Staff Oncologist, The Hospital for Sick Children, about the clinical utility of genomics in childhood cancer and how this extends beyond targetable mutations. She shared some of her team’s results and also demonstrated the value of comprehensive cancer genomics at multiple points within the patient care trajectory. This included confirming a diagnosis to identifying clinically actionable results.
Dr. Nicole Faulkner, Lab Director, Invitae, gave a talk about the role of variant reclassification in reproductive carrier screening. Faulkner presented the results from a retrospective study of patients undergoing routine carrier screening who received clinically significant variant reclassifications. She explored the opportunities and challenges of reporting variant reclassifications. She also emphasised the importance of developing a consensus on reclassification in carrier screening.
Genomic technologies are continually evolving, enabling us to gain better insights into genomics and disease. For example: single cell technologies. Single cell analysis has shown promise in uncovering genetic heterogeneity of disease. Dr. Caleb Lareau, Researcher, Stanford University, delivered a talk on how massive parallel joint single-cell mitochondrial DNA genotyping and chromatin profiling can reveal properties of human clonal variation. He expressed how mitochondrial DNA has many attractive qualities that make it an ideal source for tracking somatic mutations.
Another session focussed on machine learning, with a talk from Federica Luppino, PhD student, Max Planck Institute of Molecular Cell Biology and Genetics, about improving variant effect assessment using inferred protein structures. She described how her team have trained a specialised classifier that uses evolutionary and structural features to classify variants of uncertain significance, with unprecedented accuracy in clinically actionable genes.
Strength in Diversity
A major challenge in genomic research is the lack of diversity. Human genetic studies have largely explored European populations, limiting the ability to translate findings to other populations. As a result, the need to include a broader range of human populations is important to ensure that the benefits of future advances in genetics are seen for all. The event contained several sessions exploring this gap in genetic research.
This included a talk from Dr. Katrina Claw, Assistant Professor, University of Colorado Anschutz Medical Campus, about enhancing ethical research within indigenous communities. Claw emphasised how there is persistent bias in genomic studies and also discussed a framework for enhancing ethical genomic research within indigenous communities and how to foster responsible research on ancient DNA. Another talk was given by Julianne M. O’ Daniel, Assistant Professor , University of North Carolina, about the issues of mistrust and willingness to participate in genomic medicine research. She presented results from a small focus group, where the lasting impact of historical events was made apparent. Mollison emphasised that while creating authentic relationships takes time, it is vital in order to gain public trust.
During the ASHG’s annual diversity luncheon, a variety of key figures discussed the strategies for advocating diversity. They also explored the landscape of workforce diversity in academic medicine. Dr Joan Y Reede, Dean for Diversity and Community Partnership, Harvard Medical School, explored the barriers that exist at societal, institutional and also personal levels. She noted that each of these have to be addressed in order to achieve true equity. She stated:
“A seat at the table is not sufficient. We must have a voice at the table and leadership roles at the table.”
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