For the second time in the past three years, we celebrated the DNA Day activities in association with the School of Health Related Professions (SHRP) Research Day, at the University of Mississippi Medical Center (UMMC). The goal was to present the ASHG to the students and the faculty of this medical center.
High school students presented research posters for judging and discussion containing illustrations, data, and study results, on topics including potential cancer therapy, population diversity, health disparities, and molecular modeling. The sound of students’ presentations was loud and added to the excitement. The students, a majority of whom are from Murrah High School of Jackson, Mississippi, were mentored by the UMMC faculty.
The students are in a program called Base-Pair, supported in part by funding from the Howard Hughes Medical Institute. Base-Pair was initiated over 25 years ago to help advance science education in the public schools of Jackson, Mississippi.
Just in time, I was able to include the names and photos of the 2019 DNA Day Essay Contest winners in the poster. The students were excited about the DNA Day Essay Contest. Some of them are thinking about participating next year. I presented a couple of quizzes just for fun and also to test their genetics understanding, one about the sickle cell gene and disorder, and another about genome editing. The students responded enthusiastically to the quiz. I promised to discuss the role of genetics in organ transplantation next year. Overall, the event was very educational.
My first few months as a Genetics Education & Engagement Fellow, which have included rotations at the National Human Genome Research Institute (NHGRI) and ASHG, have been full of lessons, new experiences, and opportunities to increase my skill set.
At NHGRI, I’ve learned more about government agencies and how they work. I’ve begun to develop partnerships across the National Institutes of Health (NIH) and the surrounding community, and have seen that the NIH is a collaborative environment, and how small the genetics community is in the DC area. At ASHG, I have discovered some of the roles of scientific societies and the importance of member relationships. I have seen the behind-the-scenes work required to build a community and plan valuable events. I’ve had the opportunity to participate in and even spearhead events helping to increase genetic understanding and health literacy in different communities.
My major project while at NHGRI was the NBC4 Health and Fitness Expo. This project required immense collaboration and preparation. Though weekend snow covered the streets of the district, we were still able to educate and engage over 200 community members and talk to them about genetic risk assessment, direct-to-consumer genetics, basic genetics and genomics, and some of the things that happen at NHGRI. Seeing the public converse about how genetic health history impacts their lives was a highlight for me. It’s so important to show those who may not have a vested interest in science how it impacts them and affects their day-to-day lives.
This was not my only project that focused on facilitating and increasing genetics education and engagement. Shortly after starting my rotation at ASHG, I was able to help find and develop tools for ASHG members that aid them in answering questions about genetics and genomics from nonscientific communities. ASHG is a trusted source for up-to-date genetics information and my hope is that members of ASHG can locate resources that help them answer and respond to public inquiries.
I have also had the opportunity to speak with budding scientists through an event organized by the Johns Hopkins Center for Talented Youth program. I served as a panelist and talked to gifted high school students about my career and educational experiences in the field. This event allowed me to speak on the importance of genetics, genomics, and health literacy, and to bring awareness to the importance of understanding these topics. It was great to see so many young people excited about science and the influx of different career options available to budding scientists. I’ve also had the opportunity to help increase diversity at NHGRI by helping to find and recruit committee members from diverse populations who have a vested interest in genetics and genomics.
The fellowship is just getting started. I know that there will be even more opportunities to learn, serve, and develop as a scientist and educator.
Posted By: Eve Granatosky, PhD, ASHG/NHGRI Genetics & Public Policy Fellow
Around this time last year, I was putting the finishing touches on my dissertation and trying to coordinate a date for my thesis defense. This week, I helped prepare a United States Senator for an event on drug pricing and met with constituent groups on issues ranging from cancer research to school nutrition. This dramatic and exciting shift was only possible because of the ASHG/NHGRI Genetics & Public Policy Fellowship.
Throughout most of my time in graduate school, I knew that I wanted to pursue a career in science policy, and was looking for an opportunity that would allow me to apply my scientific expertise in rare diseases and preclinical drug discovery in a policy setting. The Genetics & Public Policy Fellowship was a great fit with my background and interest in exploring multiple spaces within the policy world. So far, I’ve had the chance to work in both the executive and legislative branches of the U.S. government, and later this year I’ll complete my fellowship with the Policy and Advocacy team at ASHG. I’m currently about six months into my fellowship, and am happy to report that the experience so far has been just as excellent as I had hoped.
Budgetary and Strategic Planning at NHGRI
I started my fellowship in September within the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute (NHGRI). Right away, I got to jump into several projects the branch was working on, including drafting the Institute’s Fiscal Year 2020 Congressional Budget Justification, an important step in NHGRI’s being funded each year. This was a great way to learn about many of the research projects funded by NHGRI and write about them in a way that was concise, engaging, and accessible. I also helped organize feedback from the wider genomics community that was collected as part of NHGRI’s ongoing strategic planning process.
A highlight of this rotation was presenting a poster at the annual NHGRI Symposium. My PPAB colleagues and I described some recent studies on public perceptions of the use of genetic data by law enforcement (particularly for solving cold cases) and discussed potential policy options to address genetic privacy. After surveying symposium participants on their own views on this topic, we learned that while the NHGRI community was mostly supportive of the use of genetic data for law enforcement for solving crimes, they overall reported having more concerns about their genetic privacy than do members of the general public who have been surveyed.
A Wide Range of Health and Education Topics on the Hill
This January, I started my second fellowship rotation, in the office of Senator Richard Blumenthal from my home state of Connecticut. I work with two other staffers on the health and education portfolios, including issues related to biomedical research. Within the health space, I’ve worked on a wide range of issues, including antibiotic stewardship, e-cigarettes, prescription drugs, and dietary supplements. In education, I’m working on issues related to social and emotional learning and oversight of predatory colleges and universities.
So far, I’ve been involved in both long-term projects in these areas as well as the day-to-day business of the office. I really enjoy getting to meet with Connecticut constituents to discuss their priorities and concerns – I feel like I learn something new every meeting and it’s fascinating to get to hear about so many different topics.
Another major part of my job as a fellow is drafting bills, letters, memos, and briefings for the Senator to help him prepare for events. Putting together memos and briefings is probably where my research and analysis skills from graduate school are most valuable. These documents need to succinctly synthesize what a particular event is about, what stakeholders are involved and what their perspectives are, what past legislative or oversight work the Senator has done in that issue area, and what message he should try to get across in his remarks. Overall, I really like the pace of my office and the scope of issues I work on, and I’m looking forward to what the next few months will bring!
Applying My Scientific Training in a Policy Environment
As I look back on the past six months, I realize how valuable this fellowship has been for my career and professional development. I’ve solidified my interest in pursuing a path in science policy, and thought more specifically about what kind of professional positions I might like to pursue in the future. I’m constantly refining my communication skills, particularly in writing for different audiences and purposes. I’m improving my project and time management skills, and learning to how to prioritize short- and long-term goals. Maybe most importantly, I really like what I’m doing! This fellowship has shown me first hand that I can apply my scientific training outside of a research environment in a way that’s both personally and professionally fulfilling.
I would definitely recommend this fellowship to any early career genetics professionals who are interested in careers in policy. Beyond getting to do the kind of awesome work I talked about here, you’ll benefit from mentorship and support from the whole community of fellowship alumni. Thank you to ASHG and NHGRI for making this experience possible, and I can’t wait to see what the rest of my fellowship brings!
“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 studiesshowing 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.
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?”
We’re excited to welcome Eve Granatosky, PhD, to the ASHG family!
Dr. Granatosky started the ASHG/NHGRI Genetics & Public Policy Fellowship in August, and we were able to sit down to discuss how she got into science policy and what most excites her about her new position. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics and Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policy-making process.
Eve: The ASHG/NHGRI Genetics & Public Policy Fellowship is one of the few fellowships that has a rotational structure, allowing me to sample a few different areas in science policy. I’m not sure exactly what type of policy I want to get into, or which stakeholders I want to work with, so this position will allow me to figure that out. I recommend it to anyone who’s interested in science policy, but uncertain about what their first steps into the field should be.
ASHG: How did your background lead you to science policy
Eve: I started my career at Stonehill College, with a BS in biochemistry, and received my PhD from the University of Notre Dame. While my research focused on the biosynthesis and therapeutic potential of complex molecules derived from soil bacteria, I also developed my love for science policy.
I went into graduate school not really knowing what I wanted to do, but while there, I got to hear a guest lecturer who was a biochemist by training but currently worked for the government on bioterrorism issues abroad. She was using her scientific degree outside of the lab and the purely medical realm. This was the first time I thought that I could do something different with my degree.
I also participated in a Capitol Hill Day, where I had the opportunity to advocate for scientific research to politicians. There, I met graduate students from other universities who were also interested in science policy. Their schools had groups on campus that allowed them to participate in science policy activities year-round, which led me to co-founding the Science Policy Initiative at Notre Dame (SPI@ND).
SPI@ND meets monthly to discuss policy issues, but also collaborates with other science policy groups, such as the National Science Policy Network, and runs outreach events on campus and in the community. Though SPI@ND now runs without me, I am proud to say that it is still a strong organization.
ASHG: Why science policy?
Eve: While at Notre Dame, I was working in a lab that focused on a rare neurodegenerative condition that largely affected children. In this position, I mostly interacted with researchers, but also got to meet some of the patients and their families. It was really inspiring to see the people who our research directly affected. Science policy is an avenue for me to continue to have that direct impact. It creates paths that get the research to the people who need it.
In addition, during my lab work, it occurred to me that there were striking differences in perspectives when it came to how scientists and nonscientists viewed some issues, such as the use of genetically modified organisms. I want to assist in addressing these differences and produce work that will help all stakeholders benefit from the research being done.
ASHG: What policy issues interest you?
Eve: Making diagnostic and therapeutic tools for rare diseases more accessible to patients is a need in the field. We also have to make sure that the regulatory environment is favorable towards these developments, and that patients can more easily participate in clinical trials for new interventions.
Collaboration is a major part of these efforts. Without collaboration between organizations, both private and public, research ceases to advance and useful clinical trials won’t exist.
ASHG: Where do you think genetics is heading?
Eve: I’m really excited to see that the general public is becoming more interested in genetics because of services like direct-to-consumer genetic testing. I obviously love genetics and science, so this is a great time for us! I believe genetic testing will continue to become more accessible and useful, especially when it comes to developing precision medicine.
ASHG: Any final words for fellow scientists interested in science policy?
Eve: Twitter is a fantastic source to learn about science policy. The hashtags #scipol and #SciPolJobs are very active, and useful when it comes to finding opportunities to get involved. Science policy advocates are also engaged on Twitter and will live-tweet hearings or give their opinions on bills. Definitely check out those feeds to get a sense for what you might be interested in and what the field is looking for.
The ASHG/NHGRI Genetics & Public Policy Fellowship is designed as a bridge for genetics professionals wishing to transition to a policy career. This unique fellowship provides three separate types of experiences: time spent in the National Institutes of Health within the Executive Branch; a staff position on Capitol Hill serving elected officials in the Legislative Branch; and experience working with ASHG in the non-profit science advocacy sector. Applications open annually in February.
We are pleased to announce the results of this year’s American Society of Human Genetics Board of Directors elections. Thank you to all who voted! Members elected a new president-elect and three directors.
For details on the new Board members’ background, experience, and research interests, see the Election Bios. The new Board members will assume office on January 1, 2019, and will serve three-year terms.
Currently, people joining the program will have the choice to answer questions about their demographics, overall health, and lifestyle behaviors. Participants will also be asked, but not required, to authorize access to their electronic health record data, which is a significant source of clinical information about a person’s health history. We have established an expanding network of clinic sites around the country where some participants will be invited to give physical measurements and biospecimens for future assays and research. The program plans to begin genotyping and sequencing participant DNA next year.
All this data will be stripped of obvious identifiers and made available to researchers, who could range from students and citizen scientists to established investigators. They’ll have to apply to access the information and abide by a data use agreement. Also, participants will be able to access their own data and see how researchers are using it. All of Us is building the data resource now and expects it to be open for research in 2019. The resource should grow quickly as data from electronic health records, genetic analyses, wearables, and other sources are added.
The All of Us Research Program recognizes that the information participants are providing is personal and sensitive, and security and privacy are of the highest importance to the program. The program is working hard to establish and maintain a secure infrastructure that supports a participant-focused recruitment and enrollment process. For example, the program has implemented security features that meet rigorous federal standards for protecting and securing data.
So what is my role in all of this? As someone who has spent several years exploring human genetic variation as it relates to disease and drug response, I would love to be on the receiving end of all this data! I play an equally exciting part in All of Us as the program director of The Participant Center, which manages overall operations for All of Us’s “direct volunteer” enrollment across the country. The Participant Center has established a phenomenal set of national partners, such as Walgreens, Blue Cross Blue Shield, WebMd, and Fitbit. These partners are helping expand our national reach for clinic sites, developing national and local marketing and outreach strategies, and exploring data collection through various digital health technologies.
While my research interests align with All of Us’s scientific vision, I always find myself most attracted to this program for personal reasons. I lost my father to pulmonary fibrosis, helped my mother control her diabetes, and have stayed up many nights trying to alleviate my son’s asthma. Perhaps it’s safe to say that many of us, maybe even all of us, have similar stories. I’m honored to be a part of something that could potentially bring us one step closer to better understanding health and disease at an individual level.