Biology of Genomes 2018: The Past and Future of Genomics

Posted By: Emily C. Glassberg, PhD Candidate, ASHG Communications Committee

A few weeks ago, I attended the 31st annual Biology of Genomes (BoG) meeting at Cold Spring Harbor. In addition to highlighting the amazing research that comprises the current state of genomics, this meeting highlighted the storied past and bright future of the field. The enthusiastic participation of attendees, both at the meeting and on Twitter, shows incredible energy and momentum as we try to understand the genome’s role in biology, evolution, and disease.

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Attendees network at Biology of Genomes 2018 (Credit: Constance Brukin; copyright CSHL)

Genomics Present

The seven scientific sessions covered functional genomics, medical genomics, computational genomics, and evolutionary genomics, as well as genome engineering. Seeing this varied body of work at a single meeting clearly demonstrates that theory, experiment, high-throughput screening, and countless forms of new technology and data analysis all play central roles in shaping our current understanding of the human genome.

And, while the human genome was the primary subject of study, non-human genomes got coverage as well. Highlighted research included the genomes of near relatives, like Neanderthals; to those of best friends, like dogs; to those of model organisms, like yeast. Crowd favorites included Jaemin Kim’s and Elaine Ostrander’s talks using dogs as a system to learn about the genetic basis of complex traits (for the science as well as the adorable pictures).

The scientific programming also included two keynote speakers, Wendy Bickmore and David Page. Bickmore discussed her group’s work on how 3D chromatin structure relates to the mechanism by which enhancers – particularly long-range enhancers – interact with promoters to regulate gene expression.

Bickmore’s emphasis on the need to assay enhancer function in vivo was echoed elsewhere at the meeting. In particular, Emma Farley spoke about high-throughput measurements of enhancer function in the model chordate Ciona. In combination, these talks sparked a conversation about whether current computational models are looking in the wrong places when it comes to predicting enhancer activity and specificity.

Page presented his group’s work on the evolution of sex chromosomes with an eye to understanding sex differences in health and disease. Page’s question of whether and how males and females “read their genomes differently” connected to broader questions that recurred throughout this year’s meeting –  how do we understand the genome dynamically? When and how does the same genome lead to different outcomes?

The ways in which the genome and its downstream effects change over time and space is a big open question, and this year’s BoG showcased many approaches to tackling it:

  • Ben Strober and Jonathan Griffiths both used time-course gene expression data to track how gene regulation changes throughout cellular differentiation and development.
  • Jake Yeung shared an example of dynamic chromatin interactions and rhythmic promoter-enhancer contacts that are connected to circadian rhythm.
  • Christina Leslie presented work on how the chromatin state of tumor specific T-cells changes during cancer progression and how that influences disease treatability.

And that’s just a sample of the exciting work in this space! While we don’t yet have clear answers to these questions, the research discussed at BoG reveals a landscape that is complex, nuanced, and fascinating. What a great time to be in genomics!

Genomics Past

In addition to discussions spanning the range of the current field of genomics, BoG included a brief talk in memoriam of molecular and developmental geneticist John Sulston, who passed away on March 6, 2018. Dr. Sulston was well known for his seminal work in the now-model organism C. elegans, as well as his role in the Human Genome Project. Eric Lander also toasted Jim Watson for his role in the Human Genome Project, and to celebrate his 90th birthday. Lander and other BoG organizers later apologized for the toast, as it was seen by many in the community as minimizing Watson’s history of racist and sexist commentary.

Genomics Future

And, finally, no meeting would be complete without a vision for the future of the field.

A panel on the Ethical, Legal, and Social Implications of genomics research included four perspectives on the promises and pitfalls of germline genome editing. While there is considerable excitement around using CRISPR to cure genetic disease, many issues remain regarding proof of safety as well as ensuring equal access to the technology. Following a lively discussion during the question-and-answer, the consensus seemed to be that germline genome editing is a distant future. In the meantime, we can focus on the application of currently available options, like genetic screening and assisted reproductive technologies.

The National Human Genome Research Institute (NHGRI) also engaged researchers in its current strategic planning initiative, which began in February 2018 and will be completed in 2020. NHGRI is collecting input on priority areas to help the institute live up to its mantra, The Forefront of Genomics.

Of course, the scientific discourse at Biology of Genomes isn’t limited to the talks. The three lively poster sessions were great opportunities to exchange ideas. And many spirited discussions took place during the coffee breaks, over the traditional Cold Spring Harbor banquet, and down at Blackford bar. All told, there’s a lot to look forward in genomics!

Emily C. Glassberg is a PhD Candidate in the Department of Biology at Stanford University. She serves on ASHG’s Communications Committee and has been an ASHG member since 2014.

Developing a ‘2020 Vision’ for Genomics

Guest Post By: Eric D. Green, MD, PhD, Director, National Human Genome Research Institute

The National Human Genome Research Institute (NHGRI) recently launched a new round of strategic planning that aims to establish a ‘2020 vision’ for genomics research. This ~two-year effort will position NHGRI to lead genomics research and its applications to human health and medicine in the new decade – keeping the Institute at the Forefront of Genomics.

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Eric D. Green, MD, PhD, Director of NHGRI (courtesy NHGRI)

The strategic planning process will emphasize discussions about emerging areas of genomics that are not well-defined, are poised to benefit from new investments, and are not specific to specific diseases or physiological systems. These include broadly applicable areas such as genomic technology development; genomic variation and its role in human disease; medical use of genomic information; and the ethical, legal, and social implications of genomics, among others. We will also focus on areas in which NHGRI expects to continue providing leadership with others, including the genomic bases of rare and common diseases as well as computational genomics and data science.

A key aspect of NHGRI’s strategic planning process will be engaging both experts and diverse public communities for input, especially given the increasing relevance of genomics in everyday life – from non-invasive prenatal genetic testing to the growing availability of consumer genomics.

The new NHGRI strategic plan will be published in October 2020 – specifically to commemorate the 30th anniversary of the launch of the Human Genome Project.

We hope that you will participate in this strategic planning process! In the coming months, NHGRI will be hosting workshops, town halls, social media conversations, and satellite meetings at scientific conferences. We have already held a virtual town hall, have upcoming events in Seattle, Palo Alto, and Atlanta, and will host a satellite meeting at the ASHG Annual Meeting in San Diego in October.

Anyone can now submit their ideas on the Institute’s dedicated strategic planning website on genome.gov and follow conversations on Twitter and Facebook using the hashtag #genomics2020.

We look forward to engaging with all of you as we collectively shape the future of genomics. See you in San Diego!

Eric D. Green, MD, PhD, is the Director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH), a position he has held since 2009.

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.

ASHG and FASEB: Working Together to Make a Difference in Advocacy & Policy!

Posted By: Jennifer Zeitzer, FASEB Director of Legislative Relations

The Federation of American Societies for Experimental Biology (FASEB) is the nation’s largest coalition of biomedical researchers, representing 30 scientific societies and more than 130,000 researchers from around the world. As a member of FASEB, ASHG works closely with FASEB and the other member societies to advance research and education in biological and biomedical sciences and advocate for increased funding for biomedical research. Through FASEB, ASHG also monitors and regularly speaks out on science policy issues impacting the scientific community.

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Jennifer Zeitzer, FASEB Director of Legislative Relations

For example, ASHG recently joined FASEB in celebrating the historic $3 billion dollar increase for the National Institutes of Health (NIH) approved by Congress in late March. Securing the increase was a collaborative effort between many organizations. ASHG urged its members to email and call their elected officials and sent two Board members to FASEB’s Capitol Hill Day to make the case for NIH funding with their members of Congress.

This month, Congress began consideration of the fiscal year (FY) 2019 budget, and ASHG and FASEB are again working together to advocate for increased NIH funding. There is a good chance NIH will receive another significant funding increase in FY 2019, thanks to legislation passed in February to raise strict spending caps that were enacted in 2011. The appropriations committees will determine how that additional funding is divided among federal agencies.

Making sure NIH gets another increase will require additional coordinated advocacy between ASHG and FASEB over the next few months. More information is forthcoming, but ASHG members should expect to receive e-alerts from FASEB as well as reminders to check out the resources and tools in the ASHG Advocacy Center.

ASHG members also have access to FASEB’s Advocacy Toolbox, which includes instructions for requesting a meeting with a member of Congress at home and tips for communicating with elected officials through social media. The Washington Update newsletter provides the latest news on science policy and advocacy inside the Beltway and from federal agencies (click here to subscribe).

Communicating about science is another area where ASHG partners with FASEB. The Human Microbiome and Individualized Medicine: Genetically Fine-Tuning Prevention, Diagnosis, and Treatment of Disease are articles in FASEB’s Breakthroughs in Bioscience series that illustrate genetics-related developments in biomedical research and their importance to society. Similarly, the Horizons in Bioscience one-pagers, including articles on liquid biopsies, CRISPR/Cas gene editing, epigenetics, and optogenetics, summarize scientific discoveries on the brink of clinical application and supplement the longer Breakthroughs.

The recent $3 billion increase for NIH and other advocacy successes would not have been possible without the joint effort between FASEB and its member societies. As Congress makes decisions about the 2019 budget, FASEB is proud to have a strong partnership with ASHG to ensure that the voices of scientists are heard on Capitol Hill and in congressional districts across the country.

Jennifer Zeitzer has been the Director of Legislative Relations at FASEB since 2008. She coordinates advocacy efforts with FASEB member societies and others in the biomedical research community, including organizing FASEB’s annual Capitol Hill Day.

FASEB offers free webinars on advocacy and policy issues. Sign up to receive notifications about future FASEB webinars here.

Representing ASHG and Genetics at FASEB’s Capitol Hill Day

Posted by: Neil Hanchard, MD, PhD, ASHG Board Member

I don’t consider myself to be particularly ‘political’; however, the last two Presidential budgets have included closing the U.S. Department of Agriculture-funded building that houses my lab and office. This has made me keenly aware that the science we do doesn’t occur in a vacuum. I thus consider myself particularly fortunate to have had the opportunity to participate in FASEB’s Capitol Hill Day (March 8) as a representative of ASHG. This now annual event brings scientists from across FASEB’s 31 experimental biology societies – including ASHG – to the Capitol to lobby for their own science. It’s timed to coincide with annual budget making season and, since it’s been going on longer than any of the more than 50 fellow scientists in the room knew for sure, it’s a central piece of FASEB’s public policy engagement.

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L-R: James Musser, FASEB President-elect; Sharma Prabhakar, AFMR; and Neil Hanchard, ASHG Board Member.

For me, getting up close and personal with the machinations that enable the science engine was a truly fascinating experience. The DC-based staff of FASEB and ASHG essentially do this all the time and, accordingly, were like a well-oiled sequencer. They did an amazing job of prepping first time scientists-come-lobbyists (like myself) – hosting prep sessions well before the event, as well the night before and morning of. Plus, they ensured that everyone was suitably armed with critical talking points for their State representatives and glossy summary pamphlets to go along with them. After a day running around (literally) meeting with State representatives’ aides in the halls and offices of the National’s Capitol, here are my top 5 takeaways:

  1. There is strength (and comfort) in numbers. FASEB represents ~130,000 scientists in the U.S. and around the world – that’s not a trivial number and the powers-that-be know it.
  2. The Capitol is very large. It’s a mind-boggling maze of offices and hallways, with a subway linking the two houses to boot. With multiple 10-15 minute meetings strewn across the “The Hill”, there’s no way we could have done it on our own – the FASEB facilitators, who included our own ASHG staff, knew not only where we were going, but each of the representatives’ voting and stances on science issues as well.
  3. There is an art to the lobby. There’s an etiquette to lobbying, with polite, often unwritten rules of how to deal – the mandatory exchange of business cards (which I forgot – whoops!); the pitch, the pivot (when you’ve lost your audience); the parting promises and closing invitations – a well-rehearsed dance that, performed well, can be the difference between a “yea” and a “nay”.
  4. Everyone wants their piece of the pie. The Lobby dance is performed by umpteen groups this time of year – if there’s a group you can think of, they were probably there. For scientists to get the funding they need to continue doing good science, they should remember that “the squeaky wheel gets the grease.”
  5. Science is bipartisan. Somewhat surprisingly for me, the pitch for NIH, NSF, and USDA science was well-received at all of the Texas representatives’ offices we visited, irrespective of party affiliation. I also learned of several unheralded champions for science from both sides of the political aisle.
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After a chance hallway meeting with Rep. Al Green, the Texas group sat down with Rep. Green’s staffer to discuss the importance of biomedical research.

All in all, this was a truly enlightening and emboldening experience; honestly, if I can do it, pretty much anyone can, and there’s a strong argument that any and all scientists should – host a representative in your lab, visit your local representative’s office, make the phone call/sign the email – as jaded as I was about the process at the start, it was heartening to know that it can actually make a difference.

Neil Hanchard, MD, PhD, FACMG, serves as Early-Career Member of the ASHG Board of Directors. He is an Assistant Professor and Clinical Geneticist at Baylor College of Medicine and Texas Children’s Hospital, and has been a member of ASHG since 2010.

Help Secure $2 Billion More for NIH!

Posted By: Derek Scholes, ASHG Director of Science Policy, and Jillian Galloway, Science Policy Analyst

Take Action Now

On Monday, the Office of Management and Budget rolled out the President’s budget request for Fiscal Year (FY) 2019. Although Congress ultimately determines federal spending, the President’s budget sets the tone for the nation’s domestic and international priorities. The proposed budget for the Department of Health and Human Services (see page 40) suggests $34.8 billion for the National Institutes of Health (NIH). While this represents an increase over the current funding for NIH, most institutes at the NIH funding genetics research would see their funding cut. In response, ASHG President David Nelson issued a statement expressing disappointment and the Society’s enthusiasm for working with congressional leaders to sustain ongoing investments in biomedical research.

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U.S. Capitol (Credit: National Park Service)

With the FY 2019 announcement coming from the White House this week, you might assume that Congress has finished its work for funding FY 2018. But you’d be wrong! After several months of debate and delay, and a couple of brief government shutdowns, Congress is finally entering the home stretch. As you may have heard, last Friday Congress passed legislation allowing spending caps on federal programs to increase by $296 billion. The passage of this legislation also established a deadline of March 23 for Congress to determine how much funding to allocate to each federal agency in FY 2018, including for NIH. Therefore, now is the time to contact your members of Congress about why sustained federal funding for human genetics research is so important.

The FY 2018 funding story to date has been complicated, so let’s briefly recap what’s happened so far. Congress was unable to pass legislation to establish FY 2018 funding for federal agencies by the September 30, 2017 deadline established by law. Since then, Congress has been passing a series of Continuing Resolutions, or CRs, to allow the government to continue to function. These have been necessary because Congress has been unable to reach agreement on overall levels of funding in FY 2018 and what the funding of each agency should be. The passage of last week’s budget agreement between Republicans and Democrats marks a significant hurdle in overcoming this impasse.

For NIH specifically, there are two alternative proposals on the table for FY 2018. House appropriators have proposed $35.2 billion for the agency, an increase of $1.1 billion over the FY 2017 funding of $34.1 billion. A Senate proposal goes further, supporting a $2 billion increase to $36.1 billion. Over the past several months, ASHG and its partners within the Federation of American Societies for Experimental Biology (FASEB) have been working with the larger biomedical research community in making the case for a $2 billion increase. These numbers stand in stark contrast to the Administration’s proposal to cut funding for NIH by an unprecedented $7 billion cut to $26.9 billion.

To secure the $2 billion increase for NIH, your Senators and Representatives need to hear from you now! Please go to our Advocacy Center to send a personal appeal to your elected representatives about the impact of federal appropriations on your research and/or institution, urging them to support a $2 billion increase for NIH. Your story matters: Emphasizing the important role federal funding makes to your genetics work is imperative for making the case, more generally, for scientific discovery as a national priority. Take action today and make sure your voice is heard on Capitol Hill.

For more information on ASHG programs in policy and advocacy, visit the Policy & Advocacy page.

Reflections on My Experience as a Genetics & Public Policy Fellow

Posted by: Christa Wagner, PhD, 2016-17 ASHG/NHGRI Genetics & Public Policy Fellow

If you had asked me when I started my PhD if I could envision myself working in public policy, including as a staffer in the U.S. Senate, I would have said no way! But this reality is the beauty and excitement of the ASHG/NHGRI Genetics & Public Policy Fellowship, which has exposed me to policymaking in the executive and legislative branches of the U.S. Government, as well as with the Science Policy Department at ASHG.

As a graduate student at the Johns Hopkins University School of Medicine, my research on a complex genetic disorder that often results in immune deficiencies opened my eyes to issues in bioethics and policymaking. I wondered how non-scientists in state and federal law-making bodies were informed about the scientific and health implications of their policies. I stepped out of the box and took a short leave of absence from graduate school to work with the Policy Director at the Ovarian Cancer National Alliance in Washington, D.C., and was hooked.

Breaking the Ice

The Genetics & Public Policy Fellowship has been essential and a life-changing experience in my transition from an academic research environment into policy and advocacy. I began my fellowship in the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute (NHGRI). I helped the team keep up with new legislation in Congress and with regulations in other agencies that would affect NHGRI researchers and grantees. I helped assemble the FY2018 Congressional Budget Justification, which each agency compiles yearly to outline financial needs and highlight program successes and goals. Since 2016 was an election year, I also helped to draft the presidential transition team documents, again outlining the important work being conducted by intramural and extramural researchers at NHGRI.

Lessons in Drinking from a Fire Hose

My second rotation was a primer in hitting the ground running, as I joined the office of Senator Sherrod Brown just before Inauguration Day in January 2017. I worked on a broad range of issues in healthcare and biomedical research, including Medicare and Medicaid, infant mortality, the opioid addiction crisis, antibiotic resistance, drug pricing, and rare diseases.

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Making a trip to Capitol Hill with Genetics & Education Fellow Teresa Ramirez (credit: NHGRI)

My daily activities varied, but generally involved meeting with Ohio constituents (including graduate students!) to discuss their legislative concerns, as well as drafting bills, letters, and memos, and preparing the Senator for Senate committee hearings. I also managed Senator Brown’s health-related appropriations requests for FY2018, and represented the office in communicating with stakeholders after a blood lead level testing kit was recalled by the FDA and CDC over the summer. Additionally, I found ways to stick to my genetics roots, and in April combined DNA Day with Take Your Children to Work Day by encouraging my colleagues and their kids to celebrate by extracting strawberry DNA in our office conference room!

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Senators do care about science! (credit: Sherrod Brown via Twitter)

Coming Full Circle

I am wrapping up my fellowship by working with the science policy team at ASHG this fall. I think ASHG members would be surprised to see all that happens behind the scenes here, and I’ve enjoyed bringing the experience I’ve gained through my government rotations back to a scientific society.

At ASHG, I’ve been able to fulfill my primary goal of the fellowship: to use my knowledge and skills in bridging the gap between legislators in Washington D.C. and ASHG members. I used my scientific background to educate Society and Congressional staff about advances in gene editing technology in preparation for a Senate hearing. I also authored blog posts about changes to the NIH definition of clinical trials and FDA oversight of genomics research, and worked with ASHG members to develop a comment letter to the National Academies Committee on return of individual-specific research results.

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Meeting Canadian Senator James Cowan, ASHG Advocacy Award recipient, at the ASHG 2016 Annual Meeting (credit: ASHG)

Looking to the Future

Overall, the fellowship has been a wonderful and successful experience in solidifying my interests and informing my career trajectory. It has shown me the translatability of my research skills and allowed me to cultivate a distinct and highly valuable analytical skillset. This fellowship has opened my eyes to the incredibly diverse health and science policy worlds, teaching me how to take creative approaches to policy changes and build effective collaborations.

I am further thrilled to be joining the ranks of a wonderful fellowship alumni community. Previous fellows have been instrumental in helping me during this entire experience, from offering suggestions on Capitol Hill rotations to career advice and networking. I look forward to carrying along these relationships and experiences to my next role working in policy and advocacy on the Government Relations team at the Association of American Medical Colleges beginning in 2018.

And finally, thank you to ASHG and NHGRI for continuing to support this fellowship. I look forward to remaining a member of this community and to welcoming future classes of fellows!