Posted By: Kiran Musunuru, 2019 Chair, ASHG Program Committee
On the heels of our successful 2018 meeting, the Program Committee is soliciting invited session and workshop proposals for ASHG 2019, taking place October 15-19 in Houston. Proposals are due on December 13, which is just over three weeks away.
One of the highlights of the meeting for me are the interactive invited workshops, which help me stay up-to-date on the latest research tools that I can use in my own work, as well as keep me informed about and engaged in pressing issues in human genetics. Today I will share some tips on how to build a cohesive, competitive invited workshop proposal that will be well received by the Program Committee and, if accepted, the attendees of the workshop. If you are looking for advice on invited session proposals, see last year’s blog post.
What are Invited Workshops?
An Interactive Invited Workshop is an educational or instructional event that relates to scientific scholarship, research tools, new technologies, skill development, or public information related to science. If you are looking to organize a session to address the state of the science on a specific topic, you may want to submit an invited session proposal instead.
Tip: Craft your session to benefit attendees.
Take this opportunity to write a clear description of the intended workshop with realistic goals to accomplish in 90 minutes. The average workshop participant is relatively unfamiliar with the tool or skill being taught, and the workshop goals should be conceived and communicated accordingly. A good strategy is to cover two to three main concepts and, if in doubt, err on the side of more basic learning outcomes.
If you want to target a more advanced audience, remember to be explicit about what prior knowledge you will expect of participants, and stay away from words like “introduction” and “primer” in the workshop title to avoid confusion.
Tip: Plan for a crowd.
It can be challenging to maintain interactivity with up to 200 attendees at your workshop! I recommend you recruit help from knowledgeable colleagues who can either co-present or float throughout the room to help participants who are falling behind. Depending on the complexity of the skill or software, four to six workshop leads should be sufficient.
To support your ability to recruit a team to oversee the workshop, ASHG offers complimentary meeting registration for up to two workshop presenters, as well as an extra four complimentary workshop tickets for any additional experts you invite.
Tip: Workshops can be low-tech.
Despite the increased use of computers and other technologies in the lab and clinic, there is a desire for skill-based workshops. Past programs have included workshops on improving clinical communication with patients and exploring how to accurately and sensitively capture demographic data in research studies. Such workshops can build great connections between attendees. Just be sure to avoid a series of lectures from a panel, which would be better suited to an invited session.
Tip: Improve upon past experiences.
If you have run a similar workshop before, either at a previous ASHG Annual Meeting or another venue, be sure to address past challenges. For example, if too many participants thought the workshop pace was too fast, you may wish to reduce the amount of content covered, pair attendees for the demonstrations, or recruit additional floaters to help keep everyone on track. There will be space on the proposal form to include past participant feedback. Of course, new workshop organizers are always welcome and encouraged.
Want more tips?Watch our video on how to craft a competitive invited workshop proposal.
Kiran Musunuru, MD, PhD, MPH, 2019 Program Committee Chair, is an Associate Professor of Cardiovascular Medicine and Genetics, and the Director of the Cardiovascular Institute’s Genetic and Epigenetic Origins of Disease Program, at the Perelman School of Medicine at the University of Pennsylvania.
AJHG: What caused you to start working on this project?
Jonathan: Our lab studies the genomic basis of complex human diseases, and we’re particularly interested in the mechanisms underpinning transcriptional regulation. The last decade has seen tremendous advances in understanding the role of common genetic variation in health and disease, but genome-wide association studies (GWAS) don’t always identify specific causal genes, and we know that the variants associated with disease are likely to influence gene expression rather than causing changes to the transcribed protein. We have been quantifying genetic and epigenetic variation in large numbers of samples and have been thinking about ways of integrating these datasets to fine-map GWAS regions.
This project built on our previous work using DNA methylation quantitative trait loci (mQTLs) to interpret the functional consequences of common genetic variation associated with neuropsychiatric disease and other human traits. We generated blood mQTL data in the Understanding Society UK Household Longitudinal Study (UKHLS) and used these to refine genetic association data from publicly available GWAS datasets in order to prioritize genes involved in complex traits and diseases. We also sought to identify pleiotropic relationships between DNA methylation and variable gene expression by using publicly available whole-blood gene expression QTL (eQTL) data.
AJHG: What about this paper most excites you?
Jonathan: First, we have generated an extensive mQTL dataset, using the new Illumina EPIC DNA methylation array to identify over 12 million associations between genetic variants and DNA methylation sites, including a large number not identified by previous DNA methylation-profiling methods. We show that there are many instances of shared genetic signals on neighboring DNA methylation sites and that these associations are structured around both genes and CpG islands. We hope these will be a valuable resource for the genetics community, and our data can be downloaded from our website.
Second, we demonstrate the utility of these data for interpreting the functional consequences of common genetic variation associated with human traits by using summary-data-based Mendelian randomization (SMR) to identify >1500 pleiotropic associations between complex traits and DNA methylation sites. Finally, we use these data to explore the relationship between DNAm and gene expression by using genetic instruments rather than correlations to infer associations between specific DNA methylation sites and genes.
AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?
Jonathan: Our results add to an increasing body of evidence showing that genetic influences on DNA methylation are widespread across the genome. We show that integrating these relationships with the results from GWAS of complex traits and genetic studies of gene expression can improve our understanding about the interplay between gene regulation and expression and facilitate the prioritization of candidate genes implicated in disease etiology.
AJHG: What advice do you have for trainees/young scientists?
Jonathan: Most importantly, pick a subject you are passionate about and make sure your science continues to be fun! The biggest and best-funded labs are not necessarily the best places to train; research is all about teamwork and collaboration, and to me, these are key attributes that trainees and young scientists should look for in selecting a place to study and learn. Don’t be afraid to be wrong, and you should never worry about questioning your supervisor or mentor; I have learned so much from the exceptional postdocs and students in my lab who generally know a lot more than I do! Finally, make sure you keep a good work-life balance; it’s important to switch off and realize there is more to life than grant funding and papers.
AJHG: And for fun, tell us something about your life outside of the lab.
Jonathan: I live in a small fishing village on the Devon coast just outside Exeter in the UK. When I’m not trying to understand gene regulation in the brain, I spend a lot of time in my allotment attempting to grow enormous vegetables. I also cycle a lot, and last year rode to Paris from the UK along with Eilis Hannon (first author on this paper) to raise money for the amazing Alzheimer’s Society who fund our work into dementia.
Jonathan Mill, PhD, is a Professor of Epigenetics at the University of Exeter and Psychiatric Epigenetics at Kings College London.
Guest Post By: Heather A. Zierhut, PhD, MS, CGC; and Adam H. Buchanan, MS, MPH, LGC
Genetic counselors’ advanced training in – you guessed it – genetics and counseling, plays a key role in healthcare. Genetic counselors can guide and support people seeking more information about how inherited diseases and conditions might affect them or their families, and help interpret test results. While many genetic counselors work directly with patients, others focus on research to help in the development of new or improved treatment or care for people with genetic conditions. In honor of Genetic Counselor Awareness Day on Nov. 8, National Society of Genetic Counselors (NSGC) members Heather A. Zierhut, PhD, MS, CGC, and Adam H. Buchanan, MS, MPH, LGC, share how their research is shaping the future of genetic counseling and precision medicine.
NSGC: What inspired you to be a genetic counselor?
Heather: I think there are two main categories of people who become genetic counselors: those who have a long exploration into the profession or those who have a light bulb moment. My entrance into genetic counseling was like a laser light show. My undergraduate genetics professor briefly mentioned the career. Like any good researcher, I went to my tiny matchbook size dorm room and looked up everything I could possibly find on the topic. Fireworks were going off in my mind. Genetic counseling was love at first literature search.
Adam: I’m one of those long exploration types. In college I cycled through several possible career choices. My career research was a great source of stories about the (sometimes gross) lives of a veterinary technician or hospital employee who cleans up after surgeries. But, nothing grabbed me until I worked with a genetic counselor while doing my thesis in a master’s of public health program. I loved the way genetic counseling combined the communication skills I was learning as a public health educator with the connections you make while interacting with patients.
NSGC: How did you first get involved in genetic counseling research?
Heather: Like many aspiring Principal Investigators, my gateway to research was undergraduate summer programs. I loved the idea of being able to set up experiments, ask questions, and get answers all in a three-month time span. But after experimenting in yeast and fruit fly labs, I found myself wanting to research something different. I switched gears to my ultimate organism of interest, humans. It all started with two genetics icons, Janet and Marc Williams, giving me a small research project looking at outcomes of early hearing screening tests. Even after making the decision to pursue genetic counseling, I never lost my desire for research. I searched for a training program where I could find mentors to support my interest in clinical care and research. The desire for research mentors was first and foremost in my decision to go to the University of Minnesota.
Adam: When my kids were little and their favorite question was “why?”, I knew they came by it honestly – it’s always been one of my favorite questions, too. As a genetic counselor I sought out ways to answer the whys that arose in my clinical work. Like Heather, I was fortunate to have colleagues willing to indulge those questions and a mentor who looked for opportunities to involve me in all phases of research during my research apprenticeship – including writing and reviewing manuscripts and learning the ins and outs of grant proposal preparation. So, when I was driving home from a rural cancer genetics clinic one day and had a light bulb moment about how to more efficiently improve access to care, I had the tools to turn that spark into a viable research project.
NSGC: What do you enjoy about genetic counseling research?
Heather: You either love and appreciate the ups and downs of research or you gut out the experimentation period in hope and anticipation of the day you get those final results. As much as I wish I could say that I love to stop and smell the research roses, I do not. I am a destination data person. Getting results is my favorite part of research. It’s like the best holidays all wrapped into one called Data Day. Knowing this about myself, I chose to pursue a doctoral degree in genetics and epidemiology with research projects that give me data sooner rather than later.
Adam: I’m totally with Heather on her love of Data Day. I also love thinking about the research process as crafting a story. If everything falls into place, you develop this beautiful narrative that arcs from why your research topic is important to patients all the way to how the study you’ve proposed will generate data that will help those patients. It’s a challenging process that takes a lot of tinkering and being able to communicate the big picture while having your details in order. That’s why it’s such great fun when it works.
NSGC:What advice do you have for aspiring genetic counseling researchers?
Heather: I shifted research directions completely after completing my PhD. The shift was the right direction for my newly developed skill set, but I needed help getting started. I reached out to people with expertise and asked them to assist me. I applied for numerous early investigator grants and was told repeatedly that I needed more experience in the field. Not letting it slow me down too much, I started collecting pilot data to build my case. Others in the field started to take notice and I was asked to be on several national committees. These combined efforts led to funding through the Jane Engelberg Memorial Fellowship, a grant intended to promote the professional development of individual counselors and to improve the practice of genetic counseling. This took persistence and a following a slightly different path than I had envisioned. My advice is don’t be afraid to take risks and get out of your comfort zone.
Adam: All research starts with a good idea. And our clinical experience can provide a wealth of research ideas. Pay attention to the whys that linger in your mind after seeing patients. Also, researchers fail. Sometimes spectacularly – unfunded grant proposals, rejected manuscripts, and studies that go off the rails. This is a particular challenge for the over-achievers who make up the ranks of genetics professionals. But, it’s an inevitable part of doing research that moves the field forward. Keep your head up, rely on the mentors Heather mentioned – they’re out there and they really do want to help – and learn from everything. Finally, find a research focus that gets you jazzed. It’s a lot easier to be persistent when you’re excited about your work.
NSGC: What genetic counseling research are you working on now?
Heather: My current research is on the vast under-diagnosis of familial hypercholesterolemia (FH) and issues that arise in communication of genetic information in FH families. There are 1 in 250 people out there with a treatable genetic cause of high cholesterol. It’s my research and my job to make sure that people with FH know the risks and have opportunities to prevent heart disease in their families. But as with anything having to do with families and communication, it’s complex. Our research team chips away at finding ways to screen families and help them become aware of their heart disease risks. We hope to give an opportunity to end the cycle of heart disease in their family.
Adam: I’m leading a group that was just funded by the NIH to study how children and their parents react to receiving genomic results for conditions that do not occur until adulthood (such as hereditary breast and ovarian cancer syndrome). There are lots of intriguing questions we’re hoping to answer in this study, particularly about the psychosocial impact of this information and how family members use it to guide their healthcare. It’s a topic that has been written about a bunch, but there’s barely any empirical data to guide whether and how to provide this information to families in practice. We’re looking forward to adding our story to the mix and helping families in the process.
Heather Zierhut is the associate director of the University of Minnesota Graduate Program of Study in Genetic Counseling and assistant professor in Genetics, Cell Biology, and Development. Current areas of research include the psychosocial and public implications involved with the provision of genetic counseling services, implementations of whole genome sequencing, and outcomes of genetic counseling.
Adam Buchanan is an assistant professor in the Genomic Medicine Institute at Geisinger, Co-Director of the MyCode Genomic Screening and Counseling program, and a member of the American Board of Genetic Counseling. His research focuses on access to genetic counseling and assessing behavioral and psychosocial outcomes of genetic counseling.
As part of our ongoing commitment to address how genetic findings are used in society and to foster discussion within the field and the public, I am pleased to announce that ASHG is launching a new “Perspectives” series of short statements this month, which will be published periodically in The American Journal of Human Genetics.
The first topic targets disturbing and scientifically flawed attempts to link genetics with racial supremacy. The statement denounces such attempts, stating that there can be no genetics-based support for claiming one group to be superior to another.
We decided to address this important issue in the series’ first statement, recognizing that there has been a resurgence of bogus claims that racial supremacy has scientific roots. The statement explains that humans cannot be divided into biologically-distinct subcategories, given the considerable genetic overlap among members of different populations, and asserts clearly that genetics exposes the concept of ‘racial purity’ as scientifically meaningless.
Statements in the new series will address a variety of important topics in human genetics and its interface with society, reinforcing the Society’s and Journal’s role as a leading source of emerging human genetics science. They will offer timely, concise viewpoints on topics in research, health, and society that have been prioritized by the Board; will address how scientific research informs those issues; and may assert Society policy positions or note important related field activities.
Statements will also refer readers to a range of lengthier academic or other relevant work. They do not strive to cover the breadth and depth of each issue but rather to draw on, complement, and highlight the need for continuing research and member engagement.
“AJHG has long been a leading home for discussion and debate about emerging science across human genetics. We are enthusiastic about this new feature, which will help ensure that scientific facts, findings, and open discussion inform larger societal dialogue,” said Bruce Korf, MD, PhD, Editor-in-Chief of AJHG.
Fostering Discussion Within and Outside the Scientific Community
As research in human genetics continues to advance, it is opening new pathways of understanding and treatments that are saving lives. At the same time, ASHG has long been committed to addressing how these findings may be used in society, and we hope this new series will spark individual scientists to be increasingly vocal in discussing what the science does, might, and doesn’t say about a wide range of important issues, even—perhaps especially—when there is disagreement.
Individual members of our Society are knowledgeable, thoughtful, outspoken, and diverse in their views – these are the traits that push our field forward and help us collaboratively and thoughtfully address complex issues. Members, I encourage you to speak out, in your own voices, to represent your individual views as genetics experts on this and other important topics.
Given ASHG’s broad community of researchers, clinicians, ethicists, and other professionals, we anticipate perspectives on many topics may spark a diversity of dialogue, with strongly held perspectives on the science. We look forward to continuing that discussion through the pages of AJHG and hope to spark ongoing, constructive dialogue in the laboratory, classroom, clinic, and across the broad range of colleagues interested in human genetics.
David L. Nelson, PhD, is President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.
Last month, the U.S. Congress approved legislation establishing a $2 billion (or 5.1%) funding increase for the National Institutes of Health (NIH) in Fiscal Year (FY) 2019. NIH’s total funding for FY 2019 is $39.1 billion. This includes increased funding for several priority research initiatives, such as the Cancer Moonshot and the All of Us research Initiative.
Increase Will Support New Priorities in Genetics and Genomics
The legislation (H.R. 6157) was signed into law by President Trump on September 28, after passing both the Senate (93-7) and the House (361-61). The $2 billion boost is the fourth consecutive increase in the NIH budget in recent years, demonstrating strong bipartisan support for biomedical research in Congress. Significantly, it is the first time in over 20 years that Congress has finalized the NIH budget on time.
In addition to Congress being able to allocate funding for specific research initiatives, the annual appropriations bill also gives Congress an opportunity to issue directives to federal agencies, such as establishing how an agency should proceed on a particular activity or commissioning a report about a particular topic. One such directive you may be familiar with is the so-called “Dickey-Wicker Amendment,” which forbids the use of federal research dollars on any research that harms human embryos. In the FY 2019 appropriations, there are three directives related to genetics and genomics:
A Government Accountability Office report was commissioned to analyze the medical genetics workforce nationwide. The report is asked to determine whether there are a sufficient number of qualified professionals to serve this growing health need and whether there are any geographic areas that lack access to genetic counseling professionals.
An amendment from Senator Marco Rubio (R-FL) requires the HHS Secretary to submit a report on the circumstances in which the Centers for Medicare and Medicaid Services may be providing payments to, or otherwise funding, entities that process genome or exome data in the People’s Republic of China or the Russian Federation.
Funding Bill’s Timely Passage Will Help with Long-Term Planning
The fiscal year runs from October 1 through September 30 of the following year, and each year, Congress is required to establish funding for upcoming fiscal year. For the past 21 years, Congress has missed the deadline, and in order to avoid a government shutdown, had to pass a Continuing Resolution (CR) that agreed to continue to fund the government until a new spending bill was completed. Indeed, such a scenario caused brief shutdowns last winter.
This year, the Department of Health and Human Services, which includes NIH, was funded through all of FY 2019, so there is no possibility of a shutdown for NIH. The budget’s timely passage means that institutes and centers can plan for the year ahead knowing what funds are available. However, other agencies, including the National Science Foundation, are currently funded by a CR until December 7, 2018, and funding for these agencies in FY 2019 remains uncertain.
AJHG: What prompted you to start working on this project?
Sek: In observational studies, many biomarkers including the concentration of protein spilling into urine (albuminuria) are correlated with health outcomes. We wondered if the association of albuminuria with adverse health outcomes reflected a causal relationship or mere correlation. Knowing this is important to determine if decreasing urinary albumin excretion should per se be a target for therapeutic intervention.
AJHG: What about this paper/project most excites you?
Sek: In addressing the question above, we identified a bi-directional relationship – genetic predisposition to albuminuria leads to higher blood pressure and genetic predisposition to higher blood pressure leads to more albuminuria. We suspect this reflects a feed-forward loop.
AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?
Sek: Mendelian randomization is a useful genetics approach for causal inference. The availability of biomarkers, clinical outcomes, and genetic data in a single large study – UK Biobank – is facilitating systematic Mendelian randomization analyses for a range of biomarkers.
AJHG: What advice do you have for trainees/young scientists?
Sek: Pick an important problem to study – one that not only you care about but also the rest of the world. Figure out the skills and resources you need to address the problem. Then, go out and get the training and resources to attack the problem. Stay focused on the problem and ask yourself, each day, if you are working on the most impactful thing you could be doing.
AJHG: And for fun, tell us something about your life outside of the lab.
Sek: Life outside the lab is consumed by three children – ages 15, 13, 10. Raising them to be happy, loving, and engaged with the world is a joy.
Sekar Kathiresan, MD, is the Director of the Center for Genomic Medicine at Massachusetts General Hospital (MGH), Ofer and Shelly Nemirovsky MGH Research Scholar, Director of the Cardiovascular Disease Initiative at the Broad institute, and a Professor of Medicine at Harvard Medical School. He has been a member of ASHG since 2004.
What happens when you put three genetics experts in a room full of curious minds? Ideally, a fascinating conversation that everyone involved will still be talking about days later, and that’s exactly what happened in a U.S. Senate hearing room last Friday, September 28. The health staff of Senator Patty Murray, top Democrat on the U.S. Senate Committee on Health, Education, Labor and Pensions (HELP Committee), invited ASHG, along with the National Human Genome Research Institute (NHGRI) and the HudsonAlpha Institute for Biotechnology, to discuss genomics with Congressional staff working on health issues.
With genomic technologies becoming more prevalent in medicine and agriculture, it is critical that those making legislative policies impacting genetics and genomics have a good understanding of genomics research and its uses. NHGRI was represented by its Director, Eric Green, MD, PhD; HudsonAlpha invited their Vice President for Educational Outreach, Neil Lamb, PhD; and ASHG’s spokesperson was Kiran Musunuru, MD, PhD, MPH, an Associate Professor of Medicine at the University of Pennsylvania and our 2019 Program Committee Chair.
Dr. Green opened the conversation by discussing how technology advancements in the last two decades have revolutionized the field of genomics. He described how our ability to now sequence an individual’s entire genome quickly and cheaply has completely transformed how we think about genomics, the types of information we can glean from our genomes, and how we can apply this knowledge to realize the vision of personalized medicine. Dr. Musunuru explained how scientists are able to use genomics to increase our understanding of common diseases such as cardiovascular disease, and to explore possible avenues of treatment. He also explained why diversity in research cohorts is so important. Dr. Lamb finished up the introduction to genomics by talking about using genomic sequencing to study rare and undiagnosed diseases; he also touched on how using genomics in agriculture may have an impact on the plants and animals that we eat in the future.
A fascinating dialogue ensued between the expert panel and the Congressional staff regarding what personalized medicine will look like in the future, how genomic technologies are going to fit into existing healthcare framework, and the importance of genomic literacy at all levels.
Through participation in events like these on the Hill, ASHG is helping Congress understand the value of genetics research. It also helps us showcase the expertise of our members, and demonstrates that ASHG is a resource to which Congress can turn for expertise on human genetics and associated policy issues. In this way, we are able to build stronger relationships with members of Congress and their staff.