With our study results this year, 3billion participated in the American Society of Human Genetics (ASHG), the world’s largest genetics held in Los Angeles, USA, for five days from October 24 to October 28. ASHG is a conference where more than 6,000 genetic researchers and clinicians participate yearly to present their study findings and to build a network. At the site, 3billion researchers shared their study findings with the world, including artificial intelligence technology for diagnosing rare diseases, methods to improve diagnosis, and cases of diagnosing patients.

Today, we will hear the vivid backstory of the conference site from Sean(Kisang Kwon) in the bioinformatics team. 3billion's marketer Jeff(Taeyeon Bae) led this interview.

Please introduce yourself

Jeff(Taeyeon Bae)
Hello. Thank you for interviewing with us. Please introduce yourself and those who participated in the conference with you.

Sean(Kisang Kwon)
Hello. My name is Sean, I work as a bioinformatics engineer at 3billion.
In ASHG 2022, 7 people from 3billion participated, including me. Dr. Hane Lee (former UCLA professor), who is the Chief Genomics Officer, as well as the bioinformatics team, artificial intelligence team, clinical genetics team, and sales team joined together.

Can you explain about the "Reviewers' Choice"?

Jeff
Although this was the first time for 3billion to attend ASHG, your study poster received excellent scores from reviewers and was selected as the “Reviewers’ Choice.”

Sean
That’s true. We received an email informing us that our poster was approved. We were informed that reviewers would score posters, and the top 10% would get a different ribbon. I arrived at the site and saw the numbers on each poster, up to 3400s.

Even if it’s 10% of those, it’s still more than 300 items, which is not a small number. I was pleased that many people paid attention to our poster while they walked around.

Who visited 3billion's poster session and why?

Jeff
Oh, I see. Who asked questions? Which questions did they ask when you presented your poster?

Sean
Most of them were researchers, and some were in a doctoral program at the medical school. This study of 3billion involves producing significant results by complementing the data of races that were obtained relatively less in the public database, using the data accumulated while we directly diagnosed patients in our company. Therefore, many people were curious about our database, and they asked about general characteristics or distribution of races. According to the study, variants classified as pathogenic are reclassified as “low pathogenic.” Therefore, physicians who make a diagnosis based on variants in clinical practice were also interested.

What kind of feedback did you get?

Jeff
Is there anything else that you received feedback on, other than on the study?

Sean
Yes, of course. We received a lot of positive feedback on the poster and banner, for which our design team worked hard. Dalgona (Korean sweet) that we brought received excellent reactions. We made it when the Squid Game was famous and were glad many people still liked it. In the booth, we tried to explain as best as possible for those interested in 3billion.

Jeff
On the contrary, is there anything that you have regrets about?

Sean
I regret that we did not prepare enough Dalgona because we didn’t expect how popular it would be (laughs).

I also regret that we didn’t actively promote the study presentation by Hane and Kyle, which they prepared separately. We should have informed more people about the exhibition as we were confident in our study.

How was the overall atmosphere fo ASHG 2022 and what did you feel?

Jeff
That’s a shame as you were prepared. What were the overall atmosphere of ASHG 2022 and the features of each section?

Sean
In ASHG 2022, the most impressive aspects were sharing insights on the database through a large-scale genomic project and long-read sequencing. As years went by, the long-read sequencing technology advanced and the processing capacity and speed improved immensely. It is expected to also be helpful for structural variants (SVs), which are difficult to read. What remains in my memory among the sessions I attended is a study in which a pan-genome graph was constructed to represent personal genome sequencing in the patient group using long-read sequencing data, exploring rare SVs among them. Because the pan-genome graph, in which I was interested during my master's course, was used for interpreting SVs, which is one of the challenges to 3billion, it remains in my memory vividly.

Was there any interesting episode?

Jeff
Great! Please tell me about the most memorable, interesting episode.

Sean
Interesting episode (laughs)? We had a little trouble going through U.S. customs, and we might have been conspicuous as we had lots of luggage for the conference booth.

The customs informed us that they would inspect us, and when they asked what was inside our luggage, I answered “food” because I was embarrassed. Then, they checked it more strictly (it’s true that Dalgona is food, though).
Also, our return flight was at 11 pm, right after the conference schedule. So, we finally went to a restaurant near Santa Monica beach. The fried food we ate there was delicious.

What do you expect next year?

Jeff
I’m already looking forward to ASHG next year. I guess 3billion will also participate. What is the goal for next year?

Sean
3billion has had a steep increase in the number of cases diagnosed since 2016. We expect to have a remarkable performance next year. We received feedback regarding direct diagnosis results from our international customers, and it would be wonderful if we could hear about more good cases in the future. Unlike when I went to the conference as a visitor three years ago as a graduate student, I attended ASHG 2022 as a presenter this time, which gave me a lot of pressure.

As I experienced the site in person, I could meet and network with researchers around the world in person, which gave me clear motivation. It was a meaningful time because I could expand my views and obtain many new ideas. I would like to have more careers and experiences in the future and become a senior researcher who networks worldwide, just like Dr. Hane Lee, who’s doing great.

Jeff
After interacting with you through this interview, it’s clear that participation in ASHG 2022 was an excellent inspirational opportunity for 3billion and its researchers. I hope that you can attend ASHG 2023 with a more significant study. Thank you so much again for this interview.