The American Society of Human Genetics (ASHG) conference kicks off next week in Boston. Before we pack our bags, GEN chatted with Sarah Tishkoff, PhD, the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania. Tishkoff has also served as president of ASHG for the past year (ASHG presidents serve a one-year term.) Her research interests include genomic and phenotypic variation in ethnically diverse Africans.
The Presidential Symposium, “Unraveling the Genetic Foundations of Human Disease: Insights from the Past, Present, and Future,” represents these interests and will take place on Wednesday, October 15th at 5:00pm.
In this interview, Tishkoff shared how the past year has been, some of the major themes that will be present at the meeting, and what she, personally, is most looking forward to.
This interview has been edited for length and clarity.
LeMieux: How has the past year been, serving as ASHG president?
Tishkoff: Not what I had originally anticipated. Nobody could have anticipated what this year was going to be like. It was filled with plenty of challenges right from the start—right from month one. We’ve had to deal with unprecedented challenges. Never before as a society—ASHG society or U.S. society—have we had to deal with these kinds of issues. At least, not in my lifetime. And of course, the biggest challenges had to do with the fact that science has been under attack this year. We witnessed abrupt termination of thousands of scientists and staff at the NIH, NSF, and CDC. Then we saw massive funding cuts and grants of many of our members taken away abruptly. We saw massive layoffs of scientific research staff, graduate programs had to either stop taking new graduate students or greatly reduce the numbers, and many people had to stop hiring postdocs. Many faculty job searches came to a sudden halt which is extremely concerning because we are talking about the training of the next generation of scientists and maintaining our position in the world as the leaders in biomedical research.
Given that situation, ASHG has done the most amazing job with advocacy, which is one of the things I am the proudest of. I need to highlight the work of both Karina Miller, PhD, the associate director of Advocacy and Public Affairs at ASHG and Tony Wynshaw-Boris, MD, PhD, the chair of the Government and Public Advocacy Committee [and a professor in the Department of Genetics and Genome Sciences at the Case Western Reserve University School of Medicine.] Tony is the very well-deserved recipient of this year’s advocacy award at the ASHG meeting. They have both been tireless in their efforts to make sure that our voices are heard and to let members of Congress know how important the research is that we do and the role of NIH in making us leaders in science and critical contributors to the local and national economies.
Until a year and a half ago, I had never been to the Capitol. But starting in the spring of 2024, the executive board of ASHG went to the Capitol to advocate for biomedical research funding. I’ve now gone two more times in the past year. And what we have heard, over and over and over again, from Republican and Democratic members of Congress, was that calling and writing has been making a difference. They said, “tell people to keep contacting us. Tell us personal stories.” They wanted to hear how these cuts have impacted you, or your family, or someone you know.
I’m really happy to say we’ve been successful. There was a proposed 40% cut to NIH and about a 60% cut to NSF. And at this point, Congress has said that they’re either going to keep the NIH budget flat or a little bit higher. We would still like it to be even higher, but that’s a lot better than a 40% cut. I can’t even conceive of the consequences of that.
So that has been the top priority for this past year. And I am very, very proud of how hard everybody has worked on that and how hard our members have worked.
LeMieux: Are there any specific programs that you are proud of?
Tishkoff: I am very proud that we kept our ASHG-NHGRI Genomics and Public Service Fellowship Program. In it, we train post-baccalaureate fellows on pursuing career paths that advance public service for human genetics and genomics. They work in partnership between NHGRI and ASHG. And that program was at risk of not continuing so we are really happy about that. Also, for the first time, we had a virtual symposium that was focused on emerging frontiers and cancer research. And that worked out really well. So, I think we’ll be doing that again.
We formed a partnership with the National Society of Genetic Counselors and had two webinar programs on the importance of scientific communications and explaining complex science to non-expert audiences.
And we’ve been building our global genomics community. We have the Latin American Scholars Program, which was started this year, which is designed to provide early career genetics and genomics researchers in Brazil with virtual education opportunities, mentorship, networking, and building skills related to running independent research laboratories. This was made possible through sponsorship from Illumina, so we are grateful for that.
Not to mention, of course, a lot of the year is spent planning this meeting! So, all this work culminates in this meeting.
LeMieux: Will there be any specific programming at the meeting that addresses the situation going on with science funding or the administration?
Tishkoff: Yes. There are one or two sessions that are going to be specifically about advocacy. On Wednesday, some of the distinguished coalition leaders from Research!America and The Coalition for the Life Sciences will be discussing recent advocacy efforts. There is going to be an advocacy booth at ASHG Central where we’ll have postcard activity where people can share why they support human genetics and genomics research and why the funding is important. And we’re going to be giving out science stickers and postcards that people can send out to members of Congress. Also on Wednesday, there is a session entitled Authentic Engagement Beyond the Lab, Engaging Communities in the Future of Genetic Medicine.
The Boston Museum of Science will have a booth with hands-on activities to demonstrate how they communicate science to a general audience. It’s a skill that all of us need to learn. One of the other things I learned this past year, as part of my advocacy efforts, is that it’s not just about explaining science to people in Congress. It’s about telling your neighbors, your family members, your work colleagues; people who are not scientists may be the most important people to communicate to. We need to be explaining the importance of what we do because they are going to make the biggest difference. It’s going to have to be all of society together.
LeMieux: Are there any changes to the program or things that haven’t been done before?
Tishkoff: One new thing is the lightning talks. These will be three-minute talks followed by quick question and answer sessions. They are chosen from the top scoring poster abstracts that are going to be presented live in this fast-paced format. We’ve never done that before. Hopefully it’s going to be a success. I anticipate that it will be.
And then we do have several workshops. For example, there is a leadership development workshop, talking about skills and team building and project management because we just don’t get taught these skills in graduate school. We are not taught how to be good managers. So, we want to make sure that people have those skills.
LeMieux: What are some of the hot scientific topics that you’re focused on this year?
Tishkoff: I have to, of course, highlight the presidential symposium. The idea behind it was to consider what about our evolutionary history results in the pattern of genomic variation that we see in populations today, and how that might impact disease risk and health disparities.
I wanted a speaker who’s going to address first the more ancient past. So that’s going to be Janet Kelso, PhD. She is going to talk about inter-aggression or interbreeding between modern humans and Neanderthals and Denisovans (archaic populations that were outside of Africa when modern humans migrated out of Africa) and how that has shaped the genome outside of Africa and what are the functional phenotypic implications for that. Because there are some traits that may be impacted by that.
Then David Reich is going to talk about the past 40,000 years, looking at ancient DNA and what we can learn about human population history and what are the evolutionary forces like natural selection or just random genetic changes that have resulted in different patterns of genetic variation—and what the implications are for disease risk.
Then we have Loic Yengo, PhD, talking about what the present patterns of genomic diversity are in people of diverse ancestries and what the implications are for trying to identify risk factors for common complex disorders.
Talking about the future is Francesca Luca, PhD, who has the most challenging part. Francesca studies gene by environment interactions and what the impact is on disease risk. So she’ll focus on that considering things like how climate change or the environment is shifting.
We have the distinguished speaker symposium, which is going to be talking about artificial intelligence and machine learning and the impact on studies to identify genetic risk factors for disease. They will also talk about privacy issues, consent, and the potential for bias, which is something we really have to watch out for with these machine learning approaches.
There are several sessions that dealt with multiomics data. Some of them were focused on multiomics and autism spectrum disorder, neurobiological disorders, and also cardiometabolic health, [as well as] how to generate and analyze complex data sets using [something] like a systems biology approach with multiomics data.
As a human evolutionary geneticist, I’m excited about the session on evolution of the coding and non-coding genome and another session on gene environment and multiomic interactions across populations of different ancestries.
Another topic that will be part of my presidential speech is why we need to include people in genomics research that are reflective of the global population, why that helps us, and why we can learn more about risk factors for disease and developing therapeutics that are effective in everybody. There are several sessions that are going to talk about multi ancestry studies. There is a phenomenal session devoted to this on the last day.
I also want to highlight the ELSI (ethical, legal, social issue) related sessions. There is one on ethics and community engagement and another on genetic findings in African genetic ancestry populations. And a session on “Genomes from the Global South: Population Genomics Projects and their Impact on Precision Medicine and Global Populations” Speakers will discuss genomic research in Africa, in Brazil, in India, and in the Pacific. Another session on “Authentic Engagement Beyond the Lab, Engaging Communities in the Future of Genetic Medicine” which is really important; if we’re going to be studying these diverse populations, they have to be part of the discussion and involved at every level.
There will be sessions on AI, sessions on long read sequencing, structural variation, studying telomere variation and the impact on disease risk. Another timely session, with all the discussion on autism right now, will be a session on autism spectrum disorder from genetic variation to neurobiology.
LeMieux: Thanks for putting my itinerary together for me!
Tishkoff: I’m just putting together my itinerary as well! One of my priorities, when building my itinerary, is to have time to go to the poster sessions because that’s where we can interact with people. So, I asked for as much time to be put into my schedule between 2:30 and 4:30 so that I could attend the poster sessions. That is really important to me. It is one of the things that I enjoy the most about the meeting because that’s where you can network and see your colleagues that you haven’t seen for years. It’s where you get to interact with students and trainees. And if you are recruiting for new trainees, that’s the place you’re going to find people.
I’m particularly excited about the poster presentations this year because, frankly, there are a lot that could have easily been oral presentations.
Also, we have an extraordinarily large number of booths. I think this was one of the most that we’ve had in terms of industry. And it’s not just industry! A lot of academics and scientific societies now have booths.
LeMieux: What are some of the biggest challenges in the field right now that you think will be topics of conversation at the meeting?
Tishkoff: AI. Everybody’s talking about AI and applying AI approaches to genomics data and the challenges around that. There are some issues that are being raised right now about data security. Also, the advances that we’ve made with the new technologies for doing long read sequencing for resolving entire haplotypes. And having the pangenome now and creating pangenomes that better reflect our whole global community. I think there’s going to be a lot of discussion about the new technologies, for example, using the latest in the single cell sequencing technologies to look at the cell level. But with new technologies comes new challenges.
LeMieux: What are you looking forward to outside the sessions?
Tishkoff: Well, I will be very busy until 9:00 PM every night! But we have several receptions and those are always really fun. There is the Sweets and SNPs Dessert Social—for members to connect on their science and network over sweet treats. Also, I’m really looking forward to the Community & Belonging reception. There is also an awards reception where the trainees give poster presentations to the awards committee, which I’m also part of this year. I like when I have a chance to interact with the trainees.
If I have any extra time, I will try to get to the museum because I love the museum! My husband and daughter will be coming, so I hope we can grab a dinner or two at one of the great restaurants in the area.