AAAS 2019: Science Transcending Boundaries

Posted by: Eve Granatosky, PhD, 2018-19 Genetics & Public Policy Fellow

Earlier this month, I attended the Annual Meeting of the American Association for the Advancement of Science (AAAS), held right here in Washington, DC. Themed ‘Science Transcending Boundaries,’ the program featured sessions on how science can bring together people, ideas, and solutions from different disciplines and sectors to address the world’s most pressing problems. This conference was very different from others I’ve attended in the past, which have focused on one specific scientific area. The AAAS Meeting also had a strong focus on science policy and communication, and I was excited to attend those sessions as well as explore scientific talks in different areas.

A common theme across the policy and communication sessions was the importance of understanding your audience – what are their priorities, and what information is valuable and relevant to them? At one session, panelists discussed the many legitimate influences on policy and policymakers, and how scientific evidence is usually only one factor that contributes to decision making. In another, panelists spoke about the challenges of getting usable scientific information to policymakers, and described the important role of boundary organizations that span the science-policy interface in facilitating effective two-way communication. Later on in the conference, panelists discussed how science is frequently used strategically rather than substantively in policy (i.e. to support an existing position rather than develop that position).

The final session of the conference brought many of these ideas together. In “Science Activation: How Do We Get Our Science Used by Those in Power?”, seismologist Lucy Jones reflected on her experience in successfully working with local government and private industry in Los Angeles to better prepare the city for future earthquakes. Her tips and lessons included:

  • Scientists and non-scientists have different communication styles, and scientists’ emphasis on uncertainty can hinder effective communication.
  • Use scientific information to reduce uncertainty whenever possible, by focusing on describing future scenarios based on scientific consensus rather than the probabilities of potential outcomes.
  • Provide policymakers with actionable information to empower them to make decisions, and maintain relationships with stakeholders throughout the process.
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At the final session of the AAAS Annual Meeting, Lucy Jones, PhD, and AAAS President Margaret Hamburg, MD, discussed how human stories help engage the public on scientific issues.

Another policy-related highlight of the meeting was an appearance by Kelvin Droegemeier, PhD, the newly confirmed head of the White House Office on Science and Technology Policy. In his first public speech since assuming this position, he highlighted the progress made in science and technology during the Trump administration, including advances in artificial intelligence, quantum sciences, 5G networks, and manufacturing. He also emphasized the role of the private sector in supporting basic research, and the value of assessing all work being done in our country’s research ecosystem, including research in the academic, industrial, nonprofit, and federal agency sectors. By leveraging the strengths of each sector to build new public-private partnerships, he hopes to usher in a “second bold era” of science in the United States. Finally, Dr. Droegemeier acknowledged the need to create safe, welcoming, and accommodating environments for research, as well as to reduce administrative burden for scientists.

The need to improve the climate within science was also addressed at a session entitled “Societies Combatting Sexual Harassment in STEMM Fields,” which formally introduced the Societies Consortium on Sexual Harassment in STEMM. This group of almost 60 scientific societies (including ASHG!) plans to develop resources and guidance to address sexual and gender harassment in all its forms, in both society-organized operations like conferences and broadly within the societies’ scientific fields.

Between all of this excellent policy programming, I attended some great scientific sessions as well, on topics ranging from vaccine development to space exploration. Genetics was best represented at a session entitled “Race, Sex, and Genes: Shaping Bodies, Shifting Boundaries, Challenging Myths,” which delved into how social and biological factors intertwine to contribute to health disparities. Panelists discussed how human genetic variation does exist, but is distributed more geographically and as a gradient than on the strict racial lines dictated by society. They also discussed the complexities of consumer genetic tests in relation to group identity, saying that these tests can be valuable for marginalized people looking to reconnect to their ancestral communities, but should not be used to claim group membership.

Overall, I really enjoyed my time at AAAS 2019! I would highly recommend future editions of this conference for anyone who is interested in science policy and communication, or who is interested in expanding their scientific horizons and learning about new topics.

Eve Granatosky, PhD, is the 2018-19 ASHG/NHGRI Genetics & Public Policy Fellow. She is currently in her second rotation in the United States Congress, working on health and education issues for Senator Richard Blumenthal. Interested in this fellowship? Applications will open in late February.

What Difference Does Difference Make? An ASHG/FASEB Event on Diversity in Science

Posted by: Nalini Padmanabhan, MPH, Communications & Marketing Director, ASHG

Shirley Malcom
Shirley M. Malcom, PhD

“Diversity is a scientific imperative,” said Vence Bonham, JD, in his introductory remarks to last week’s ASHG/Federation of American Societies for Experimental Biology (FASEB) event, titled “What Difference Does Difference Make?”. The event featured keynote speaker Shirley M. Malcom, PhD, Head of Education and Human Resource Programs at the American Association for the Advancement of Science (AAAS), who led an informative, interactive, and spirited discussion among nearly 70 staff at ASHG, FASEB, and several other FASEB member societies.

With strong board support, ASHG is already undertaking steps within our community to improve diversity and inclusion in science and exploring additional efforts. By sharing ideas and feedback with AAAS, FASEB, and other scientific societies, who face similar challenges and operate in similar environments, we are committed to building on successful strategies to raise our collective effectiveness.

Diversity in Genomics Research and Among Researchers

Dr. Bonham, Chief of the Health Disparities Unit at the National Human Genome Research Institute (NHGRI), set the stage by describing the importance of diversity in genomic research cohorts and in the genomics workforce. He cited several studies showing that the vast majority of genome-wide association studies (GWAS) and genetics-based disease studies in the public domain focused on populations of European ancestry. Though there has been some change in recent years, he noted, populations of African, Latin American, and Asian ancestry are still significantly underrepresented.

Diversity in the scientific workforce follows similar patterns, he explained: data show the relative representation of African American scientists declines at each step along the career path, from graduate school applicant all the way through department head.

Access to Scientific Opportunity, Power, and Science as a Human Right

“The challenge we have in this country is that we are both too polite and too impolite. There are things we don’t talk about because it makes us uncomfortable, and part of the challenge we have had is that we have not been honest in our discourse,” said Dr. Malcom, framing her discussion. “Inequalities related to sex, gender, race, and ethnicity are all part of the same issue, which is the distribution of power. We don’t talk about power much, but it drives much of what we see that we do not like,” she explained.

The 1948 Declaration of Human Rights, recognized explicitly by most countries, includes the right to the benefits of scientific progress. Furthermore, she said, scientific curiosity is part of being human, and unequal access to a scientific career reflects differences in power within the field and the educational system. For example, those who set the research agenda define which questions the field considers important, how findings are assessed, and how success is attained. These decisions tell an implicit story about what science is, who science belongs to, and who can do science.

Dr. Malcom & Dr. Bonham
Dr. Malcom & Dr. Bonham lead a Q&A

Diversity Discussions Have Improved but Challenges Remain

Taking a historical perspective, Dr. Malcom traced how discussions of diversity have evolved since the 1960s and 1970s. Originally considering it solely as a legal issue related to civil rights, many started to improve inclusivity out of need – demographic shifts and a growth in research required more talent in the workforce. More recently, there is growing appreciation of the educational value of diversity as well as the innovation driven by a variety of perspectives and experiences.

“Today, women are the majority of students in higher education but not of the faculty,” she said. “There’s a mismatch between who is there and who teaches them, which affects the climate of the classroom. We need to create a new normal.”

Structural barriers and biases impede progress toward that new normal. These include difficulty in finding community and cultivating a sense of belonging, systematic undervaluing from faculty and peers, and a false assumption that difference equals deficiency.

That starts from admissions, she explained. “We have to get to a point where our programs recognize potential, not previously demonstrated performance, because not everyone has had the opportunity to actually be able to be successful in tests that we use to measure.”

Strategies and Current Efforts to Improve Diversity

Given these challenges, what can scientific societies do to improve diversity? Dr. Malcom offered several practical strategies. These include several activities that are increasingly front and center for ASHG. This year, we are beginning to track and emphasize greater diverse representation in our Annual Meeting program, and are working actively to promote more nominations and inclusion of diverse candidates for roles in society leadership and awards.

ASHG also will be exploring ways we can leverage and share with the field the learning, resources, and strategies of other leading groups, including SEA Change, an AAAS effort to support diversity and inclusion in STEM, especially in colleges and universities. It focuses on science departments and programs, helping them to identify unhealthy factors and instill best practices that create healthy cultures and foster diversity.

While the issue is complex, Dr. Malcom is confident the outlook is positive and sees more potential for progress in the scientific community. “We have evolved in the way we think about diversity in science. Now I think we are at a point where we can begin to talk about diversity, equity, and inclusion as central for excellence in research,” she said. “We all have our biases, but the question is: what do you do in spite of them and how do you overcome them?”

Inside AJHG: A Chat with Elizabeth Wright

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Elizabeth Wright to discuss her paper ‘Practical and ethical considerations of using the results of personalized DNA ancestry tests with middle-school-aged learners’.

Elizabeth Wright, PhD
Elizabeth Wright (photo courtesy Dr. Wright)

AJHG: What prompted you to start working on this project?

Elizabeth: I could give you a long answer about being a former middle school science teacher and what drove me to get a PhD in Science Education, but simply put, I am committed to finding ways for each and every student to see themselves connected to science and each other, and supporting teachers in that work.

AJHG: What about this paper/project most excites you?

Elizabeth: I am equally thrilled and cautious about having adolescents use their own personal DNA to explore who they are genetically, genealogically/socioculturally, and intentionally. We are not all of one thing and none of another. We can use what we know about pieces of ourselves to imagine something new and amazing. We can reveal these pieces of ourselves to our families and friends and see how we are connected to each other and the grander tree of life.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Elizabeth: In the previous question I mentioned a bit about what thrills me. I am cautious because the privacy issues surrounding over-the-counter, direct-to-consumer DNA testing are monumental, and ever-shifting. It is both exciting and nerve-wrecking to ask, and watch, young scholars to embark on this intellectual journey. The engagement and electricity in the classroom when young scientists encounter themselves in new and unique ways keeps me going.

AJHG: What advice do you have for trainees/young scientists?

Elizabeth: I think the most important thing I would say is: you belong here. You belong in science. Your voice, your experiences, your viewpoint are all incredibly important. If you feel left out or unwelcome, create your own community and persevere because you are going to change things.

AJHG: And for fun, tell us something about your life outside of the lab.

Elizabeth: I’m a Red Sox season ticket holder and I love the game of baseball. I’ve been to baseball games in 27 different MLB parks, and 3 AAA baseball parks. Also, I love Orangetheory Fitness! Base-Push-All Out, that’s good advice.

Elizabeth Wright, PhD, is a postdoctoral fellow in the Jablonski laboratory at Pennsylvania State University.

DNA Day Wins ASAE Power of A Award

Posted By: Mona Miller, ASHG Executive Director

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We are pleased to share that our National DNA Day Essay Contest has received an ASAE Power of A Silver Award. These awards recognize a select number of organizations annually that distinguish themselves with innovative, effective, and broad-reaching programs that positively impact the United States and the world.

ASHG’s DNA Day Essay Contest began in 2005 and is open to students in grades 9-12 around the world. Participants are encouraged to work with their teacher to write a 750-word essay responding to the year’s question. The question is selected with the goal of pushing students to examine, question, and reflect on important concepts in genetics, which are not normally covered in a typical high school biology curriculum. The goal of the question is for students to expand their knowledge of human genetics and to use evidence-based critical thinking in their response.

The contest has grown from around 300 essay submissions in its first years to over a thousand submissions in 2018. This year, ASHG received essays from 43 U.S. states and 23 countries who explored how genetics is informing, shaping, and changing our lives, after which more than 350 ASHG members evaluated the results for accuracy, creativity, and writing.

The contest also engages our members, who act as reviewers and judges for the contest, in an activity that ties them to public outreach and creating the next generation of geneticists. Each year, around 500 members volunteer for this rewarding and worthwhile experience.

The DNA Day Essay Contest has become a signature of ASHG and we are proud of the high number of participants and member volunteers, the satisfaction of our volunteers, and the chance to expand students’ education of human genetics.  We are thrilled to have been recognized for this long-standing program that is an embodiment of ASHG engagement and creativity.

A big thank you to all teachers, students, and member volunteers who have participated over the years!

 

Welcome HHMI-ASHG Fellow, Sarah Abdallah

Posted By: Ann Klinck, ASHG Communications and Marketing Assistant

ASHG is excited to be partnering with the Howard Hughes Medical Institute (HHMI) for the HHMI-ASHG Medical Research Fellowship. We’re happy to welcome third-year Yale medical student, Sarah Abdallah, to the position.

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Sarah Abdallah, HHMI-ASHG Medical Research Fellow (Courtesy Ms. Abdallah)

This program allows medical, dental, and veterinary students to take a year off from training and perform mentored laboratory research with support of a grant. “Our hope is that the experience will ignite students’ passion for research and encourage them to pursue careers as physician-scientists,” says David Asai, HHMI’s senior director for science education in a press release.

Sarah was interested in the fellowship because “it seemed to provide access to a community of scientists and to enriching experiences on top of my research, like attending conferences and meetings.”

Sarah’s research is focused around obsessive compulsive disorder (OCD). Specifically, it involves looking for post-zygotic variants in whole-exome sequencing data from individuals with OCD and their parents. These variants arise spontaneously and are not inherited from parents. By identifying the post-zygotic variants, it may be possible to understand the contribution of such variation to OCD development, identify risk genes, and eventually find new treatments.

“I am hoping this project will contribute to the collective understanding of the genetic basis of OCD. Many people with OCD do well, but I have seen firsthand how it can present as a very disabling, persistent disorder, and current pharmacologic treatments are not completely effective for all patients,” Sarah said.

ASHG member and Sarah’s primary mentor, Thomas Fernandez, MD, is an assistant professor in the Child Study Center and of Psychiatry at Yale. Another ASHG member and her co-mentor, James Noonan, PhD, is an associate professor of genetics at Yale.

During her fellowship, Sarah is hoping to gain more experience in computational genomics and is seeking guidance on how to combine her clinical and research interests into a career. She trusts that people like Dr. Fernandez will be able help her find the right path. She is considering a career in child psychiatry and pediatrics, but “either way, I hope to keep contributing to research on the genomics of neurodevelopmental disorders along with my clinical practice,” she said.

Launched 29 years ago, the HHMI Medical Research Fellows Program supports each Fellow through a year-long research project with a mentor of the Fellow’s choosing, and facilitates peer networking among Fellows and alumni as well as seminars with senior investigators. For more information, see the Program website.

 

Genetics Outreach and Donations at Calvin Coolidge Senior High School

Posted By: Kanika Pulliam, Senior Manager, Education and Career Development Programs

On the overcast and rainy morning of May 10, the ASHG Education Team (Kelly Ventura, Senior Director of Education and Membership; Karen Hanson, Senior Manager, Education Programs; Evelyn Mantegani, Education Coordinator; and myself) headed to Calvin Coolidge Senior High School, a public school in northwest Washington, DC. The school houses an Academy of Health Sciences, which prepares students for college and careers in health-related professions.

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The ASHG Education Team talked genetics and related careers with students at Calvin Coolidge Senior High School in Washington, DC. (courtesy Kelly Ventura)

As ASHG was preparing to move our main offices to a new building, we discovered a lot of new and gently used lab equipment and supplies in our storage room. There were things like a PCR machine, water bath, and DNA gel electrophoresis items. The supplies were previously purchased to facilitate experiments with educators who developed lesson plans for high school students. With no future plans for the supplies, we decided to donate them to a local high school, and identified Coolidge High School with the help of former ASHG Genetics Education and & Engagement Fellow Teresa Ramirez.

The day of the visit, Kelly and Karen graciously drove in their monster cars for us to load up and transport the many boxes to the school. We were greeted by Zakiya Edens, Coordinator of the Career Academy. She led us to the Academy of Health Sciences room, where we discussed the science program and its strategy to motivate students to come to class and maintain good grades. Students in this special academy participate in additional classes and programs on top of their regular curriculum to prepare for college.

We then met with some academy students, followed by a biology class that was discussing basic genetic concepts and the structure of DNA. Karen and I talked about our roles at ASHG to give the students an idea of career options in the sciences beyond traditional professions like scientist or medical doctor. I shared how they can use their background and love for research to educate scientists and clinicians interested in human genetics. Karen connected to the students by discussing her role as a genetic counselor for the past 25 years and showed them how genetic counselors work with a team of medical professionals to offer the best advice to patients.

We enjoyed the experience of chatting with teachers, administrators, and students. We are now working with Coolidge High School to organize a visit from an ASHG Genetics Education Outreach Network (GEON) volunteer member, to help the teachers go through the donated items and plan experiments for the new school year. GEON is a network of ASHG members who volunteer their time to assist science teachers in building understanding of human genetics among students and the general public.

Kanika Pulliam, PhD, is Senior Manager of Education and Career Development Programs at ASHG. For more on ASHG’s programs for science students, visit our K-12 education website.

Celebrate DNA Day 2018 with ASHG

Posted By: Jannine Cody, PhD, Chair, ASHG Information & Education Committee

Happy DNA Day! Every April 25, we commemorate the discovery of DNA’s double helix structure in 1953 and the completion of the Human Genome Project in 2003, two key milestones in genetics. A variety of DNA Day events are taking place worldwide and online, including the debut of our ’15 for 15′ infographics on recent advances in human genetics – check them out!

ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest. Open to high school students worldwide, this year’s contest asked students to share their views on whether medical professionals, such as medical geneticists or genetic counselors, should be required for all genetic testing, or if consumers should have direct access to predictive genetic testing.

We received over 1000 entries from 43 U.S. states and 23 countries. Essays went through three rounds of scoring by ASHG members, who selected a first, second, and third place winner as well as 10 honorable mentions. (Want to participate next year? Read Dennis Drayna’s blog post on the judging experience.)

The winning essays were thoughtful and nuanced, reflecting a variety of views and a sophisticated consideration of the issues, and we were excited to see high-quality entries from several countries around the world. We awarded first place to Diane Zhang, a junior at Fox Lane High School in Bedford, N.Y.; second place to Ilan Bocia, a senior at YULA-Boys in Los Angeles, Calif.; and third place to Nadia O’Hara, a freshman at Pechersk School International in Kyiv, Ukraine.

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For a full list of winners, honorable mentions, and teachers, and to read the winning essays, check out the DNA Day 2018 Winners. Through this contest and our other K-12 initiatives, we hope to encourage young people to explore genetics and inspire the next generation of ASHG members and leaders.

Jannine Cody, PhD, Professor of Pediatrics at the University of Texas Health Science Center at San Antonio, is Chair of ASHG’s Information & Education Committee. Learn more about ASHG’s K-12 education programs.