The annual meeting of the American Society of Human Genetics (ASHG) is about to start.  

For a sneak-peek of the meeting and to ask about some trends,  I had a chance to sit down with Dr. Bruce Gelb from Icahn School of Medicine at Mt. Sinai  who is also the President-elect of the American Society of Human Genetics.  

He spoke about the upcoming meeting, about some larger trends in human genetics research that he sees, about conferences more generally, about the recent National Academies report on the use of race, ethnicity and ancestry labels in genetics research, about data-sharing and about career-planning.

And there's a nerdy word-game. 

Video chapters 

What is planned at ASHG 2023 and what are some wider trends in genetics and genomics? 

How hybrid will the meeting be? 

Can one try to jump across silos separating subdisciplines at a big-tent meeting such as ASHG? 

What advice do you have for big-data wranglers?

Earlier this year the US National Academies issues a report on the use of race, ethnicity and ancestry as population descriptors in genomics research. Can you comment on the path forward on this subject? 

You have studied cardiovascular diseases and the genetic underpinnings of these diseases , should junior researchers take that route? 

And here's a nerdy word-game

Transcript of the video at the top of this page. 

Note: These videos are produced to be heard. If you can, please tune in. Transcripts are generated using speech recognition software and there’s a human editor. But a transcript may contain errors. Please check the corresponding audio before quoting.

Conversations with scientists

ASHG sneak-peek with Dr. Bruce Gelb Icahn Mount Sinai School of Medicine He is President-elect of the American Society of Human Genetics

[scenes of New York A food stand, The Brooklyn Bridge, traffic at night, subway] ASHG puts on a big scientific meeting

Here, Bruce Gelb talks about the meeting and some trends. First, a nerdy word game.

Bruce Gelb

Okay, so I pick a word and then you want me to elaborate?

Vivien

No elaboration, just pick the word,

Bruce Gelb

Just pick the word. Wow.

Vivien

you'll know you'll detect why it's just one word, and not the other.

Bruce Gelb

Okay

Vivien

And if you don't like it, just say pass.

Bruce Gelb

Alrighty. And is it with picking the word respect to anything in particular? Or just...

Vivien It's what resonates more with you.

Bruce Gelb Okay, got it.

Vivien

Big conferences or small conferences.

Bruce Gelb

Small conferences. There's, room for both in this world and they serve different purposes. Medium is the truth, in my view.

Vivien

Mouse or human?

Bruce Gelb

Human

Vivien

Poster or talk

Bruce Gelb

Talk

Vivien

PhD program: four years, or as long as it takes.

Bruce Gelb

Ooh, Neither

Vivien

More wet lab techniques or more algorithms

Bruce Gelb

Also can't be answered. Both are important. We need both

Vivien

Big labs or small labs.

Bruce Gelb

We need both and I like moderate. So you're making it hard for me, I'm sorry.

Vivien

All set, all done.

What do you have planned at ASHG?

Bruce Gelb

First, let's be clear. We have a program committee that organizes things. As the President elect, I certainly get to cheer on their efforts and engage them. But I'm not the one making the selection. So I guess the first thing I would point to, and I know you have some of this from the materials is that we will be celebrating the 75th anniversary of our society. And I think that is something that many of us are very excited about.

It's hard to toss one's mind back to what genetics was like 75 years ago, when when the founders first put this together. I do know a lot about how it's grown. But the diversity of what's available to us as human geneticists, people engaged in the science of human variation, it's remarkable, really. And so I think the opportunity to think about that, to celebrate that is enormously important for our organization. You also know that that we have some other history that we spoke about in a very public statement this year, and that will be part of it, too, because it is also part of our history.

But honestly, more than anything, you know, and I can just say over my career, the notion that we are sequencing human genomes, at scale with speed is just opening up in credible horizons, the ability to edit the human genome. When I started in this business a while ago, we were getting to the point where we could edit mouse genomes, which was certainly very important scientifically and remains so. But for humans, that was not accessible to us. And there are actually other model organisms where it was challenging too. So, you know, that is opening up, of course, therapeutic opportunities, not just research opportunities, and our members certainly are engaged in the science of developing therapies. And our president, President Lee, in particular, is engaged in that. And I know that his presidential symposium will be focused on that.

Is there a trend that you've seen develop over the last few meetings?

Bruce Gelb [2:11]

Something that we've been seeing in our meeting now for a little while, continues to expand, I think there's no end in sight, and that is that there are increasing efforts to have large biobanks. The one that's really the largest and up and running is the United Kingdom's biobank the UK Biobank. Here in the United States, we have the project called all of us and when and that will very much come to the fore as the years go on.

But it's been clear that those large-scale studies where they're taking samples from people and ultimately have DNA and can sequence the DNA as as well as lots of information about the health and well being of those individuals gives us enormous power to understand why some people are sick or even well, and to get insights into human disease.

And we have several abstracts related to that, and not all of them necessarily working with DNA, some also working at protein level and these large biobank efforts are going to, I think, accelerate. We know that the price of sequencing somebody's genome is dropping, has been dropping for quite a while now. But is dropping still further. Now, that's going to enable more and more of that sort of effort. And so I think, we should expect that we will continue to see exciting new insights into human disease emerge from those efforts.

How hybrid will the meeting be?

Bruce Gelb

I would say the vast majority of our content is going to be really only available. For those at the meeting, I think, for lots of complicated reasons. It's the only feasible way forward. And I'll just say, we saw it last year, and I've seen it with other groups as well, the enthusiasm that scientists are having about being back together, science works well, that way.

We need to interact with each other. And I think people often coming home from meeting will say that, sure, I heard some great talks, some really interesting stuff. But really, it was the networking it was when I bumped into somebody and we had a conversation, that gave me a new idea or a new collaboration comes out of it. And the convenience and we understand COVID, again, is on the rise.

So there are challenges, we don't want to and for some individuals, of course, if you're somebody, for instance, who's immunosuppressed, these are, these are major considerations. So we are doing our best, we have, COVID sort of forced it anyway, but we have really increased the amount of year- round programming we have, which is is all virtual. So there are plenty of opportunities for our members and others interested in human genetics, who would want to join, but the meeting itself is largely an in-person event.

And the truth is, in general, in science, but certainly as a society, we have felt like thosejunior people have been the most vulnerable. Throughout COVID, they have lost out in numerous opportunities to collaborate, to network, to learn from people who have been doing science for a longer period of time. There's a limit to what you can do on Zoom as wonderful and empowering as it has been, or other products similar to zoom. But at the end of the day, maybe there's something that evolution did for us as human, we do a lot better with people in 3D, then, you know, with a postage stamp 2D version of ourselves. I'm not sure what that is. But I'm pretty sure it's people are going to be studying that for years, or decades to come.

So just one more thing on that. But, you know, we also have our field is very technology heavy, of course, and we at the meeting, have many companies represented. And while that's not what where we're presenting new science, the fact is that and publishers are there, labs are there are many interactions that happen there as well that we we couldn't figure out a really robust way to do during COVID.

And I think those interactions also should not be diminished. And also we have to acknowledge it's well known that although I'm an academic, I would certainly love every single trainee to wind up. The numbers tell you that's impossible that, in fact, we should be proud of the fact that people who are well trained in human genetics go off and do wonderful things within industry. We try and be inclusive, and many of them are members now. And so, you know, how does somebody who's in training get an opportunity to interact with people like that? The meeting also serves that purpose also frankly.

A big meeting is a big tent for many subspecialties, but is it also where you can jump cross those proverbial silos?

Bruce Gelb [9:50]

My answer is yes. So there are a number of ways I think that happens. One is that, for instance will have sessions where some of the best abstracts are pulled out and made into a session a large plenary session that many of the attendees will will be at. And those tend to be across many different areas of human genetics.

And I will say personally, and I think most everyone would agree, sometimes forcing your brain to listen to something that's really well out of your area to your sweet spot is, is very liberating. It promotes creativity. And obviously you learn things that sometimes turn out to be useful for your little neck of the woods as well. So that's one thing. T

he other is, I would say, personally, again, I think I'm hardly alone in this, there are times where I mean there. When there are parallel sessions, it's often a problem of like, do I go to this one? Or do I go to that one? And, you know, sometimes people try and run from one another to pick up specific talks. But often, it's an opportunity to say, I'm going to, you know. I do cardiovascular genetics, there is not a cardiovascular genetics session, every single, so I say, Okay, what's out there, that's going to be new and interesting, that might turn out to be helpful to me in the work that I'm doing. And I think people do that, broadly.

And so I think those are opportunities. And then there's just a lot of socializing. And I don't mean that as carousing, I mean, socializing in the scientific sense, where you're bumping into people and talking and you're hearing about what they're doing. Maybe it's somebody you trained with, or knew from another institution at some point in your career. And so you're learning about other things. And finally, we have a lot of posters at these meetings. And, you know, it's a little overwhelming, there are so many of them, but as you wander the aisles and, most of us try and get onto that floor and have a look, again, there's something that will catch your eye.

Or even just, you know, there's some relatively young person, a trainee, perhaps standing alone, and you just want to give them a chance to interact. And so you learn about something you hear about something that you didn't know. It happens quite a lot. So personally, I mean, I've been obviously going to this meeting for many years, I've never come back from the meeting without having been exposed to something, hearing about something that I didn't know about going into the meeting.

Well, I'll just say that also. So you know, it's inevitably the case also that when you're going home, you're a little wistful, because they're, you know, you went to one thing meant you didn't go to something else, and you might have liked both. But I would always rather be at a meeting where I am left in the end, a little bit hungry still, because I didn't get to hear everything I would have liked. Because there was so much I wanted to do, as opposed to the opposite, which I have with some other organizations where, candidly, some sessions, I'm struggling to figure out anything that really catches my interest. I don't want that. So the ASHG meetings are wonderful for me in that way.

Data-sharing, it's a collaborative must. But not easy. Especially in a big data era. What advice to you have for those wrangling big datasets?

Bruce Gelb [13:15]

Well, there there are many aspects to it. I think the there's several things to say one is, and I'm sure this is true of people who are doing this to recognize that there's enormous power in it. But also with great power comes responsibility, right?

So when we're studying large numbers of people, you know, UK Biobank half a million, All of US is trying to pull in a million, at my own institution is a project where we're trying to, to recruit a million individuals, that is obviously just fantastic numbers. But they're not just numbers, because behind those are real people who have expectations, appropriate expectations of us in terms of how we will deal with the privacy issues, how we will return the information to them.

And also, I mean, we're sitting here in New York, which is a notably diverse place. And, you know, there is real importance to making sure that the people who are participating in this and benefiting from these large endeavors are diverse and are broad. And we know, candidly, that has been a very big problem in human genetics.

We know that something like 90% of the individuals who have been studied by some of these large GWAS are of European descent. And while you know, a lot of amazing work has been done, it is both not equitable to people who are from other places have different ancestries. And also, it's not our best scientific strategy because we learn more by studying more diverse people. And so you know that I guess the that's an answer to how I think about that. Work is very challenging to do it.

Well, it, you know, it's a huge amount of data. And you have to, you know, the old garbage in garbage out holds. Like on the phenotype side, you know, we have to make sure that the information we have about people is accurate, and that it's full enough to enable the kinds of work we want to do. And we understand really what those data are and including their shortcomings, because, for instance, when you start as many biobanks do start pulling information from electronic medical records.

On the one hand, it's a very rich source of data. But on the other hand, it's also incomplete or biased in certain respects. And you have to take that into account as you seek to study, whatever your question is, and make sure that you come up with the right answer and not get led astray.

Earlier this year, the US National Academies released a report. The report is about how race, ethnicity and ancestry are used as descriptors in genetics research. Labels are needed in research but they can be challenging, too

Bruce Gelb [16:25]

So obviously, we're now talking about a very challenging and sensitive area. And I don't necessarily put myself out to be the world's expert on this topic.

That National Academies report, which I believe was chaired by Aravinda Chakravarty who is a former president of our society and somebody here in New York, who I know, and Charmaine Royal, who is a former board member of our society. So these are very thoughtful people. And I'm familiar with that report.

I think that there, I mean, that there are separate questions here, right. From the point of view of science broadly, or biomedical science, the question of whether you use these labels that are social constructs, but not biological ones, namely, race and ethnicity. There are types of research where that has a role. The question, though, that they were addressing, and I think perhaps some of your journal editors have to confront, is where do we need to use it?

When we're doing human genetics research, and there, I think the argument is being made powerfully that, at least for some types of research, you really don't need to be using those labels. And therefore, we would be best not to include them. And there are many instances where we can classify individuals based on their actual genetic findings, that gets that ancestry, which is a biological construct, and stay away from how they self-identify racially or ethnically.

And I think there's a lot of wisdom to that.There are always going to be edge cases in life, right. So I'm sure there will be gray areas, and we'll continue to struggle with them. But I think what is needed at the moment, I think this is the value of that report from the National Academy of Medicine is that what both scientists and as they prepare their manuscripts, but also manuscript reviewers and journal editors ought to be doing at each instance, is asking themselves the question: for this particular project, given what the questions were and how they went about addressing them. Is there a place or is there no place for this? Does it add meaningfully to the science?

Because after all, we're trying to describe the science that allows people to understand its validity and some cases to replicate it. And for some instances, how somebody self- describes, actually is not going to advance the science in any which way. And I think we're better off, not including it. Now, we do have odd issues at the moment NIH for now continues to, if we have funding from them to require that we use those labels in reporting.

But I know that they, too, are keeping an eye on this issue. And sometimes they lead and sometimes they follow. And so perhaps if the norms around publishing, for human genetics, at least, become too often not include those labels. Perhaps there's a way that that will then make it clear to NIH that it doesn't make sense when funding research that is human genetics to ask that those labels then be applied in reporting.the results of the study annually or at the end of them as we're required to do.

In your area of pediatric cardiology, you know disorders, you have studied a rare disease, its genetics and physiology, you know the clinical side, the patient's side. Should junior scientists aspire to know so much about a disease or disorder?

Bruce Gelb [20:10]

So what I would say is one of the things that I love about science generally and human genetics in particular is that individuals who are entering the field and hopefully being successful have to make choices. They get to make choices, which on the one hand is always a little bit scary in life, particularly when you're younger, because you're so concerned about making the wrong choice. But on the other hand, it is the most incredible gift one could ask for, compared to what so many people have in terms of their certainly what they do to earn their living, right?

And so in our field, yes, there are there are many people like me who have dug deep on a limited range of disorders and try and work on that. But there are people doing very different things across the spectrum, people just working on ancient DNA broadly. And which I read about, I don't really know the science very well. There are people who are doing population genetics, there are people who are developing new computational algorithms, those are completely different paths than the ones that I took. And it is a wonderful thing that all of those are contributed contributory both to our field and ultimately to society, because they all play into understanding, ultimately, human genetics is the study of variation of our DNA and of our genes and how they're expressed, and how that results in who we are both in sickness and in health.

And so it can be studied in many ways, applied in many ways. And therefore there's room for people to figure out what they're good at, and what really calls to them. Because we all know, research fails a lot more than it succeeds. So loving it is super important. I love human genetics. And I know from working with many others, you know, in the society, both members and people on the board, you see that passion all over the place. And I think that's really important.

I would not hold up my route as as the route by any means. It has been fantastic for me. And sure, when I interact with young people, and they're thinking about that sort of route. I'm just thrilled and happy to mentor them and also tell them a few of the pitfalls that I've managed to stumble across over the years. But fundamentally, on the other hand, I've had even trainees who go in different directions and I think that's both as it should be, and it's wonderful.

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