Ensuring Diverse Representation in Your Invited Session Proposal

Posted By: Teri Manolio, Chair, 2020 Program Committee

Invited session and workshop proposals for the ASHG 2020 Annual Meeting are now open, and I’m looking forward to working with the Program Committee to assemble an exciting, wide-ranging scientific program in the coming months. Human genetics and genomics are progressing in a variety of new directions, with clinical implementation of many basic science advances on the horizon – and in many cases, already taking place.

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Teri A. Manolio, Chair, 2020 Program Committee (courtesy Dr. Manolio)

As host of the world’s largest human genetics and genomics meeting, ASHG and our Program Committee work hard to ensure the meeting has something for everyone. An important part of that is addressing diversity and inclusion among members and meeting presenters – as noted in our strategic plan, ASHG strives to be a recognized leader in valuing, driving, and embodying diversity in genetics and genomics.

An Inclusive Presentation Stage

Scientifically and professionally, the field benefits from a broad range of perspectives. Interpretation of research results is often a matter of judgment and thus influenced by our individual perspectives and open to our biases. An inclusive environment results in a more balanced viewpoint and, often, more robust and generalizable results. To encourage diversity and inclusion in the Invited Sessions, this year’s submission form asks organizers to describe specifically how they are addressing the important topic of diversity.

We on the Program Committee hope to see session proposals that address diversity in all its forms. We urge session organizers to invite presenters and moderators from a broad mix of institutions and geographical locations, representing a variety of laboratories and disciplines. We will also pay attention to demographic diversity, as persons of different ethnic and cultural backgrounds bring important and unique perspectives. We encourage organizers to address this proactively by describing how presenters and moderators self-identify. In addition, ASHG is an incubator of the next generation of scientific luminaries, and we encourage session organizers to include trainees and other less experienced scientists among their presenters and moderators.

Diversity of Genetic Data

In addition to diversity among presenters and moderators, I have long tried to promote diverse research cohorts that include data from ancestral populations around the world. Despite the inclusion of persons of diverse ancestry in more recent studies, there has been a tendency for researchers to focus analyses on their largest subpopulations, which are almost always of European ancestry.

To learn about the influence of genetic differences on human health and disease, we need to study people who are genetically different, with appropriate consideration of the potential for confounding by other factors related to population differences. How ironic that as a scientific community we strive to understand global genomic variation, yet so often limit ourselves to studying just one-sixth of the world’s population.

We encourage session organizers to emphasize diversity of populations studied in assembling topics for their proposals, and to describe how their proposed session will support ASHG’s strategic goal of valuing, driving, and embodying diversity in genetics and genomics.

The Program Committee and I look forward to receiving and reviewing this year’s slate of Invited Session and Workshop proposals! For more information, check out tips to craft a competitive invited session and guidance on building a cohesive invited workshop. Submissions are due December 12.

Teri Manolio, MD, PhD, is 2020 Chair of the ASHG Program Committee.

Social Issues at ASHG: Invited Session on “DNA in the Public Sphere”

Posted By: Eve Granatosky, PhD, and Sammy Katta, PhD, Genetics and Public Policy Fellows

In addition to showcasing a wide array of excellent scientific programming, the ASHG 2019 Annual Meeting featured several interesting discussions on topics at the intersection of science, policy, and bioethics.

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This session brought together experts from multiple fields to discuss the use of genetic information outside of traditional laboratory and clinical settings. Credit: Elena Ghanaim, NHGRI

One such session was “DNA in the Public Sphere: How Genomic Information is Used and Protected Outside of Research and Medicine,” which brought together experts in genealogy, anthropology, forensics, and law to discuss how genetic information is integrated into their work. The session included:

  • CeCe Moore, DNA Detectives and Parabon Nanolabs
  • Amy McGuire, JD, PhD, Baylor College of Medicine
  • Kate Spradley, PhD, Texas State University
  • Jennifer Wagner, JD, PhD, Geisinger Health
  • Cristina Kapustij, MS, National Human Genome Research Institute (co-moderator)
  • Sara Katsanis, MS, Northwestern University (co-moderator)

Behind the Scenes

Eve had an inside look into the makings of this session during her Genetics and Public Policy Fellowship rotation in the Policy and Program Analysis Branch (PPAB) at NHGRI (read more about her fellowship experiences). She worked with PPAB Branch Chief Cristina Kapustij to shape the overall scope of the session, brainstorm and invite potential panelists, and draft the proposal for the session. She had a great learning experience considering which speakers would be interesting to ASHG attendees and how their different expertise and perspectives would contribute to the discussion.

Engaging with Attendees

CeCe Moore opened the discussion by outlining facts and myths about her work as an investigative genetic genealogist, and expressed concerns that changes in public databases’ policies requiring users to opt in to searches will make it more difficult to both accurately identify likely suspects and avoid unfairly targeting innocent, uninvolved persons. Amy McGuire spoke about how general mistrust of government shapes perceptions of using genetic databases, and noted that current policy provides no oversight for bad actors and violations of public trust. Kate Spradley discussed the challenges of identifying postmortem human remains found near the border given their varied nationalities, and emphasized that international collaboration and transnational agreements on the use of genetic data would be immensely helpful to her work. Jennifer Wagner concluded by walking the audience through legal precedents surrounding the use of DNA outside of research, and emphasized the lengthy process involved in enacting new regulations or law.

In a live poll during the session, about 200 attendees shared their interests, reactions to the topics presented, and ideas for continued conversation related to regulation, privacy, security, and engagement.

  • 48% had heard from the media about DNA databases being used in criminal investigations. Despite the prevalence of immigration-related stories in the national news, only 2% of respondents had heard that DNA data is used in this context.
  • 28% of respondents said that they would add their raw genomic data to a public database knowing that it might be used by law enforcement. 42% said they would not add their data, and the remaining 30% were unsure.
  • 59% of respondents either felt positively or somewhat positively about the creation of a universal DNA database for solving crimes and investigating deaths, while 33% felt negatively and 8% were unsure.
  • 45% of respondents said that DNA testing should not be used on migrant families to verify claimed relationships, while 28% believed that it should be used and 27% were unsure.
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Moderator Cristina Kapustij invites session attendees to participate in the Poll Everywhere live survey. Credit: Elena Ghanaim, NHGRI

Session attendees also commented on how the genetics community should connect with the public on the use of genetics in the public sphere. Top answers were:

  • Being clear and open about how DTC companies can use genetic information
  • Maintaining transparency in how DNA can be used in all facets of society and encouraging the public to be engaged with enforcing this transparency
  • Hosting and participating in conversations with non-scientists in community spaces
  • Developing guiding principles for the use of DNA outside of research and medicine

Earlier this fall, ASHG released a perspective describing the society’s core principles about privacy protections that should apply to all genetics and genomics research. Many of the themes in ASHG’s perspective also arose during this session. Attendees generally agreed about the importance of considering the context and potential benefits and risk of the use of genetic data, and that transparency, confidentiality, and individual decision-making about data use should be prioritized in all contexts.

Continuing the Conversation

Sammy, who recently began her first fellowship rotation at PPAB, found the panel to be a fascinating introduction to some of the less-publicized policy implications of genetic testing. She will be sharing the panelists’ perspectives and the audience’s responses with the NHGRI community through a poster at the institute’s upcoming annual symposium. She hopes attendees at the session and the symposium will feel more informed about these policy issues, and encourages them to continue discussing with their communities how DNA is used in the public sphere.

Eve Granatosky, PhD, is the 2018-2019 Genetics and Public Policy Fellow, and is currently completing her third fellowship rotation in ASHG’s Policy and Advocacy Department. Sammy Katta, PhD, is the 2019-2020 Genetics and Public Policy Fellow, and is completing her first fellowship rotation at NHGRI.

Grant and Collaboration Success: Perspectives from ASHG and NSGC

Posted By: Nalini Padmanabhan, Director of Communications and Marketing, ASHG

On October 16, ASHG and the National Society of Genetic Counselors (NSGC) held a joint forum at the ASHG 2019 Annual Meeting. In the 90-minute session, titled Achieving Successful Collaborations in a Research Setting, moderator Maureen Smith, MS, CGC, and panelists discussed how researchers and genetic counselors can collaborate through grant funding.

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Presenters from ASHG and the National Society of Genetic Counselors shared approaches to research collaboration through grant funding.

Obtaining funding can expand your professional network and resources and improve your research portfolio, the panelists explained. Adam Buchanan, MS, MPH, CGC, kicked off the session by sharing his trajectory from genetic counselor training to a more research-oriented career. Along the way, he learned the value of starting with a real-life clinical need when articulating a research question and building out an approach to study it. Once the question has been identified, he said, important next steps include brainstorming with colleagues, assembling a research team and preliminary data, choosing a funding mechanism, and writing and revising specific aims.

Team science and a mutually respectful approach were also key themes for the next presenter, Robert Green, MD, MPH. “I have always relied on the competence of genetic counselors,” he said, describing aspects of a genetic counseling background that make counselors particularly effective as research project managers. These include strong writing and interpersonal communication, a clinical care mindset, and a deep knowledge of genomics.

Toni Pollin, MS, PhD, CGC, shared specific tips for obtaining research funding as a genetic counselor. A combination of knowledge, feedback, and good planning are critical, she explained, placing special emphasis on choosing collaborators widely and wisely. Even if difficult to hear, feedback from mentors and colleagues helps those seeking funding to strengthen their knowledge – and in so doing, strengthen their grant applications. To successfully incorporate this feedback, it is important to start early and allow plenty of time for revisions.

Rounding out the session, Ebony Madden, MSGC, PhD, walked attendees through the NIH grant review process, citing points along the way where conversation with a program officer can be especially helpful. Though they are not directly involved in scoring grant applications, program officers know the intention and goals behind funding opportunities, Dr. Madden explained. Reaching out to them can help applicants identify (and highlight) the most promising aspects of their own work, as well as respond effectively to feedback when resubmitting an application.

Missed the session and want to learn more? This session was recorded and will be available online after the Annual Meeting.

Unconscious Bias: An Important Theme at the ASHG 2019 Diversity Breakfast

Posted By: Ann Klinck, Communications & Marketing Assistant, ASHG

The 8th Annual Diversity Breakfast at ASHG 2019, an annual event celebrating the diverse and global human genetics community, featured thoughtful discussion around unconscious bias and microaggressions.

Presenter Fuki M. Hisama, MD, started the conversation by describing how unconscious bias affects decision-making and behavior. Two types of inter-group bias express themselves: explicit and implicit bias.

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Breakfast attendees discussing provided topics

Explicit bias—consciously endorsed, personal beliefs about a type of person—has been decreasing over the last several decades. Implicit or unconscious bias, however, remains prevalent, and is most often seen through habits and attribution of qualities to members of a certain category of people, such as through race, gender, religion, or ethnicity. It can start very early in life. Dr. Hisama shared a personal anecdote of playing with her two-year-old relative, who confused her for a maid because of her dark hair and eyes.

While implicit biases can be positive or negative, Dr. Hisama described a few studies showing their negative impact on minority medical professionals.

A study in 2012 surveyed 127 professors at three large public and three private institutions. Professors were provided resumes/CVs that were identical except for the candidate’s name at the top, which was male in some cases and female in others. Despite having identical qualifications, the male candidates were consistently ranked as more desirable to employ and at higher salaries.

Dr. Hisama referenced a 2018 paper that surveyed minority resident physicians on how often they were:

  • Mistaken for a nurse, housekeeper, transport personnel, or interpreter
  • Asked where they were from, and the speaker did not accept an answer such as “Texas”
  • Told they speak English well
  • Asked when they were going back to their country
  • Told they were too young or pretty to be a doctor

This paper highlighted what microaggressions look like, how often they happen, and how they make the person on the receiving end perceive themselves as unworthy or “not good enough.” Dr. Hisama noted that while the person asking or saying the above remarks may not intend to offend the listener, intent and impact are quite different.

After given these examples of how people in science are affected by bias and microaggressions, attendees spent about 40 minutes discussing the cases at their tables. This event provided a safe space for trainees who are minorities to ask how others handle such situations, and share reasons not to ignore these comments, thereby sending the message that these behaviors will not be accepted. Dr. Hisama also provided Twelve tips for responding to microaggressions and overt discrimination: When the patient offends the learner.

In closing, Dr. Hisama reminded the audience of a quote from author James Baldwin, “Not everything that is faced can be changed, but nothing can be changed until it is faced.”

ASHG/ESHG Building Bridges: Tackling Global Questions Together

Posted By: Ann Klinck, Communications and Marketing Assistant, ASHG

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ASHG/ESHG Building Bridges Session Panel

The ASHG/ESHG Building Bridges session at the ASHG Annual Meeting examines topics of interest to geneticists around the globe. This year, panelists discussed the potential policy implications of genetic research into educational attainment. Recent genome-wide association studies show that polygenic scores (PGS) of common variants can explain a portion of variance in educational attainment (EA). What does this mean for questions such as whether polygenic scores for educational attainment should be used in school admissions, or to identify children likely to need specific educational help?

If you missed the session but are interested in learning more, here’s a brief summary with the some of the top takeaways. A recording of this session will be made available after the Annual Meeting.

Who were the Experts?

Moderators: Kiran Musunuru, ASHG and Joris Veltman, ESHG

Panelists:

  • Alexander Young, PhD, MPH, University of Oxford
  • Dalton Conley, PhD, Princeton University & NBER
  • Kathryn Paige Harden, PhD, University of Texas at Austin
  • Aysu Okbay, PhD, Vrije Universiteit Amsterdam
  • Melinda Mills, PhD, University of Oxford & Nuffield College

How Educational Polygenic Scores Could be Used

Using PGS to predict EA has negative and positive implications, the panelists explained. It could lead to the selection of different embryos in hopes of future higher educational attainment, or the use of PGS in school admissions and to attempt precision education. Another possibility is that insurers and other companies may use PGS to attempt to predict customer behavior.

The panelists emphasized that EA should not be used on an individual level to receive precision education, and that it is more useful when trying to examine groups of people. Additionally, other factors, such as parental education level, have been found to more strongly predict an individual’s EA.

EA prediction could be used positively to provide resources to those with a lower predicted EA. Like socioeconomic standing, it could be used to prioritize equity in educational opportunities. Dr. Okbay also noted that information like PGS predicting EA could be used to measure labor market ability and interactions between education reforms and ability.

Public Policy Implications

The panelists expressed concern about a lack of regulation on the potential use of PGS by insurance companies, schools, employers, and others to make individual-level assumptions. Without regulation, people who don’t fully grasp the limitations of PGS could use them to misrepresent an individual. Until there is more representation in research, the panelists said, scientists should help policymakers understand why PGS should not be used broadly at this time in a way that could affect a person’s opportunities or freedoms.

Does the Public Want to Use Polygenic Scores?

The panelists presented research indicating that most people would be comfortable using PGS in the context of preventing diseases like diabetes. Approaches that provided patients with more information to empower their decision-making was favorable. However, participants were less comfortable with the potential use of PGS to take away their autonomy, such as schools rejecting students based on a score. They also were not interested in using PGS to create certain physical attributes.

Takeaways

During the hour-long Q&A, several themes and takeaways arose:

  • Polygenic scores should not currently be used to predict individual-level educational attainment.
  • Currently, 80-90% of genetic discovery is within populations of European ancestry. Improving diversity in research will result in improved EA predictions.
  • There is a need for public policy regulating the use of EA to decide admission to a program or opportunities given.
  • There can be positives of using PGS in EA, such as making the educational system more equitable.

Navigating the ASHG Exhibit & Poster Hall

Posted By: Carrie Morin, Associate Director, Exhibits and Sponsorships

The Exhibit & Poster Hall is so much more than a vendor mall or a place to pick up fun items – it’s the one-stop location where you can find answers and learn about new technologies across the genetics and genomics spectrum! This year’s Exhibit & Poster Hall is the biggest ever, featuring over 280 companies! That may sound intimidating, but it really points to an exciting time in technology, drug discovery, and so much more in genetics and genomics.

PetaGene asserts that walking the Exhibit & Poster Hall is a “great opportunity to find out how you could work smarter and push your science forward.”

Wondering How to Approach an Exhibitor?

St. Jude Cloud suggests that you “ask for a one-sentence explanation. If you’re not interested, we won’t waste your time.” Don’t forget that booth staff are often scientists themselves and are also attending sessions or presenting posters, like you!

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ASHG 2018 attendees chat with booth representatives to learn more about the latest in genetic and genomic technology.

Think about a problem you are having trouble solving due to software or technology. Go to that exhibitor and tell them! Ask them what they suggest, and they will be happy to troubleshoot with you and may even have a solution for you on the spot. Olink Proteomics says, “We are scientists who love talking to other scientists, so come to our booth for discussions around your projects.”

Genoox states that hall visitors “have the opportunity to truly impact and shape the future of our products.” All exhibitors feel this way – they want their products and services to move the field forward and you are a huge part of that! Tell them what you need, what you want; they are thrilled to have a discussion with you!

Don’t Have a Big Budget?

Ask a company to help you make the case to your supervisor or schedule an in-person meeting. New exhibiting company Miroculus asserts that the most pressing issue facing the field of human genetics is “making it possible for small labs to be able to automate and routinize the most complex protocols.” Industry wants to work with you to make discoveries!

Learn from Exhibiting Scientists

CoLab theaters can be found within the clusters of booths, where industry has organized 30- or 45-minute sessions focused on their technologies. Topics are organized under the headings of Data, Clinical, and Laboratory and include sessions on single-cell technology, workflow automation, variant analysis, and handling genomic data to name just a few. Explore the CoLab schedule, and know that CoLab talks don’t oppose official platform or invited sessions, so you should have the time to check them out!

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CoLab theaters offer an informal, focused learning opportunity.

Where else can you get hands-on demonstrations of equipment or software? Or short tech-focused sessions? All while getting a cup of coffee or lunch while networking with your colleagues. ASHG 2019’s exhibitors are excited to meet you and help you advance discoveries in human genetics and genomics!

Poster Session Tips for a Scientific Meeting

Posted By: Cassie Robertson, 2019 ASHG Program Committee Member, and Ann Klinck, Communications and Marketing Assistant, ASHG

As ASHG 2019’s Program Committee meeting wrapped up, I couldn’t help but think about the importance of poster sessions, for not only presenters but attendees. If you were recently assigned a poster presentation, here are some tips to consider.

Cassie Robertson
Cassie Robertson, 2019 Program Committee Member

Posters serve multiple purposes.

First and foremost, posters are a way to share your research with the community. Practice communicating your research in a quickly digestible way; it’s an invaluable skill that you’ll use for the rest of your career.

Posters are also a tool to connect with colleagues or future collaborators. I’ve made several valuable connections through poster presentations. Be receptive to curious attendees, especially other trainees with overlapping research interests. Research is more fun when you’re a part of a community. And these people can be a valuable resource for both science- and career-related questions down the road. When appropriate, follow-up connections you make during the poster session on social media (this applies to both presenters and attendees).

Tell a story!

Make the progression of your research flow in a succinct way that feels like a story. Science is rarely a linear progression of experiments or analyses. However, to efficiently communicate the significance of your work, it helps to distill it to its essential components. Consider carefully which pieces of the puzzle are critical to understanding your rationale and conclusions. Note that sometimes failed experiments or null results meet this criteria!

Design “Dos and Don’ts”

Do:

  • Think about different viewers when putting together your work. Some will be experts in your area, and some will need the basics!
  • Show how your work relates to the larger field.
  • Emphasize the rationale and sequential logic of your experiments or analyses.
  • Use schematics to cut down on text.
  • Include contact information if you want to receive follow-up questions about your work.

Don’t:

  • List every result you’ve ever generated, or every method or analysis you’ve ever used.
  • Use jargon or abbreviations that aren’t common knowledge.
  • Use small font.
  • Make the written content super dense. You can fill in gaps during the presentation.

Prepare for the presentation.

Don’t memorize your presentation, but do practice using your poster as a visual aide to explain your work. When presenting your poster, consider and be considerate of your audience. Make the people viewing your poster feel welcomed. Face them when speaking and use your poster as a storytelling tool; don’t talk into the poster.

Know that people will filter in and out during your presentation. If someone shows up in the middle of your presentation, signal that they’re welcome to join. They will typically wait for the end to ask about material they missed from the beginning!

Remember that there are different types of attendees in a poster session. Some may be looking for a concise overview of your findings. Others will want to hear the nitty gritty of your work, any problems you had, and how you overcame them. In this scenario, don’t be afraid to go off script. If someone offers an insightful comment, feel free to write it down or ask follow-up question. We’re there to learn from each other.

I tend to be both! Posters are a great way to dive into challenges I’m facing with my own work and connect with people who are thinking about these same problems. I also use them to learn about totally new subject areas since posters are a “low-investment” opportunity to expand your horizons!

Have fun with it!

At the end of the day, poster sessions are fun for both the presenter and the attendee. It’s great to practice your communication skills, and ASHG attendees are typically patient and passionate about human genetics. Practice your presentation before you go, but remember that people know you’re honing a skill.

Cassie Robertson, MS, is a member of the ASHG Program Committee, and a PhD Candidate at the University of Virginia. She has been a member of ASHG since 2016.