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.

How I Work: Marsha Michie

Posted by: Anna Miller, PhD student, Case Western Reserve University

We sat down with ASHG member Marsha Michie, PhD, Assistant Professor of Bioethics at the Case Western Reserve University School of Medicine, to learn more about her research on the ethics of biomedical research and practice.

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Marsha Michie, PhD, Case Western Reserve University School of Medicine (courtesy Dr. Michie)

ASHG: Tell us about your position and how it fits into your institution and its goals. 

Dr. Michie: I am a social scientist and empirical bioethicist, meaning that I conduct research on topics related to the ethics of biomedical research and practice. My main areas of interest are the translation of genetic/genomic and related technologies from research into clinical care, and the impact of genetic information on patients and families, particularly in the perinatal period. I also teach and mentor students and trainees in topics related to bioethics.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Dr. Michie: I subscribe to quite a few news sources and blogs in genetics, including GenomeWeb and news from ASHG and ACMG. Because so much of my research is about how new genetic technologies are developed and used, I keep in touch and collaborate with genetic scientists, clinicians, and genetic counselors to make sure I am up to date and have a clear understanding of the newest developments in the field.

ASHG: What are your favorite genetics websites and Twitter feeds?

Dr. Michie: GenomeWeb, TheDNAExchange.com, StatNews, @hail_CSER, @GA4GH, @eshgsociety, @GeneticCouns, @GenethicsForum, @GeneticsSociety, @TheACMG

ASHG: What are you currently reading/thinking about?

Dr. Michie: I was just funded by NHGRI to study how parents prepare for a child with a genetic condition after they receive prenatal test results. I’m also working a lot on ethical issues around CRISPR, especially ways to incorporate the views of patient communities into ethical guidelines, and am spending a fair amount of time looking into infant and maternal mortality.

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Dr. Michie: I’m pretty good at calming other people (students, colleagues) down when they are nervous or anxious, and helping them see the big picture. If only I could apply that superpower to myself!

Marsha Michie, PhD, is an Assistant Professor of Bioethics at the Case Western Reserve University (CWRU) School of Medicine, and has been an ASHG member since 2013. Find her on Twitter at @marshamichie!

Anna Miller is a PhD student in Genetics and Genome Sciences at CWRU, and has been an ASHG member since 2019. 

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.

ASHG Partners with ACMG for Congressional Briefing: The Undiagnosed Diseases Network

Posted By: Jil Staszewski, Policy & Advocacy Manager, ASHG

ASHG and the American College of Medical Genetics and Genomics (ACMG) have partnered together to launch a series of congressional briefings on Capitol Hill to educate Congress on the importance of genetics and genomics research and medicine. Congressional briefings provide an opportunity for organizations to engage members of Congress and their staff on a particular topic or issue.

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L-R: Katie Murray, a staffer in briefing sponsor Rep. Loebsack’s office; and speakers John Phillips III, MD; Bill Gahl, MD, PhD; Gail Jarvik, MD, PhD; and Danny Miller.

For genetics and genomics, it is important that members of Congress and their staff understand the value that sustained federal funding holds for genetics and genomics research, and its translation to clinical applications that benefit patients and research institutions nationwide.

On Thursday, September 26, the initial briefing in this series was held, titled, “The Undiagnosed Diseases Network (UDN): The Interface of Research and Clinical Care to Solve Medical Mysteries,” sponsored by Representative Dave Loebsack (D-IA). Gail Jarvik, MD, PhD, ASHG Secretary and Co-Principal Investigator at the University of Washington UDN, moderated the briefing.

In her opening remarks, Dr. Jarvik noted the value of this ASHG-ACMG partnership and the significance of highlighting the UDN, stating, “The expertise of these two organizations and their members spans the facet of genetics from basic research to clinical practice. Just as research informs clinical practice, information learned in the clinic also informs research. Not only is the Undiagnosed Diseases Network an excellent example of this, but it is also a great example of how federal funding for such a program can broadly impact clinical care and research beyond the program itself.”

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Dr. Gahl (middle) and Dr. Jarvik (right) discuss the importance of federal funding for clinical care and research.

Additional speakers included Bill Gahl, MD, PhD, Director of the Undiagnosed Diseases Program at NHGRI; John Phillips, III, MD, Co-Principal Investigator at the Vanderbilt University UDN; and Danny Miller, the father of two patients who were diagnosed through the Stanford University UDN.

Dr. Gahl spoke about the history of how his work with the Undiagnosed Diseases Program eventually evolved into the NIH-funded Undiagnosed Diseases Network in 2013. Dr. Phillips went into detail about some of the research and diagnoses he has been able to complete through the UDN, and how the UDN allows for a unique team-based approach in identifying undiagnosed diseases. Danny Miller gave a passionate testament of how the UDN has benefited the lives of his two children, and why continued, increased federal funding is so vital in helping other patients with undiagnosed diseases and their families nationwide.

If you are interested in hearing more about the speakers’ stories, stay tuned! A video of the briefing presentations will be made available in the near future.

Have an idea about a future briefing topic? Let ASHG know at policy@ashg.org. To stay up-to-date on genetics and genomics policy issues, subscribe to our monthly policy and advocacy email updates.