By: Morteza Seifi, PhD
The American Society of Human Genetics (ASHG) Annual Meeting is a yearly conference for the genetics and genomics community to network, share their research, and learn about the latest advancements in the field. This year, although I was unable to attend the meeting, I’m excited to bring insights from one of our very own Career Development Committee (CDC) members who attended. In this interview, we will explore their experience at the ASHG 2024 Annual Meeting, including key takeaways, emerging trends, and how their work with the CDC intersects with the broader genetic research community.
Morteza Seifi: What was your main reason for attending the ASHG Annual Meeting this year, and how does it align with your work as a CDC member?
Vidhu Thaker: The ASHG Annual Meeting is a learning opportunity for me. It is fascinating to hear about the advances in human genetics from rare disease to population genetics, and gene-environment interactions. It energizes me to advance the limits of research and education. In that sense, the annual meeting enhances my own training and career development, along the lines of the mission of the CDC. The trainee presentations, both at the oral and poster presentations, are the highlight of ASHG annual meeting for me.
MS: Can you share a highlight from the sessions you attended or a particular presentation that stood out to you?
VT: I was impressed by the sessions on the non-coding genome. The increasing use of whole genome and long-read sequencing and the efforts by so many groups to add transcriptome and other omics methods to enhance the interpretation of non-coding genome was fascinating. The efforts to enhance annotation standards for the noncoding genome were a good reminder on the need for community-wide standards to enhance the utilization of generated data. The use of biobank scale data to unravel complex and rare disease beyond the UK Biobank was fascinating. It was good to see the utilization of model systems for defining mechanisms. That is often difficult to do in human studies.
MS: Were there any emerging trends or breakthroughs in genetics that you believe will have a significant impact on the CDC’s work?
VT: There were many emerging trends that will broaden career horizons for many people. The increasing utilization of multiomics at the ASHG Annual Meeting highlights the need for trainees to acquire cross-disciplinary skills. Increasing use of machine learning and artificial intelligence (AI) in human genetics, use of large datasets, and the need for scale in human genetic research may define career directions at different stages. The increasing use of therapies in genetic diseases is an emerging trend that is likely to continue and can be embraced for career development.
MS: How do you see the role of data curation evolving in light of the discussions and advancements presented at the ASHG Annual Meeting?
VT: The sessions on use on Common Fund Data Ecosystem, TOPMed 10-year anniversary, the biobanks, and development of standards for noncoding genomic regions all highlighted the need and utility of data curation for broader utilization. Resources such as the developmental Genotype-Tissue Expression projects will be best utilized by the community by maintaining data curation standards. The increasing need to utilize large scale data from different populations to understand the diversity of human genetics re-emphasize the need for data curation with common standards to enhance the utility and access for all researchers at different career stages and resource availability. The key will be to keep open access without compromising the integrity of public databases.
MS: What’s one key takeaway or insight from the Annual Meeting that you’re eager to bring back to the CDC and implement in your future projects?
VT: Think big! We often get pigeon-holed into our own silos and constraints. There is a large community out there to support, collaborate with, and move things forward. Cross-disciplinary collaborations are critical to advance the frontiers of human genetics, and it is up to all of us to take advantage of the advanced communication technologies to reach and work with others, in or outside of our own areas of expertise.
This years Annual Meeting was once again a big hit with trainees and attendees across the board and I look forward to seeing everyone in Boston next year!
– Vidhu Thaker, MD, Assistant Professor at Columbia University Irving Medical Center