ASHG Policy and Advocacy: 2017 Highlights

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

As the year comes to an end, we thought it timely to reflect upon the Society’s many policy and advocacy accomplishments in 2017.

First, with the help of members and approval by the Board, we established a new policy platform. It will provide direction for ASHG’s policy and advocacy activities for the next several years. This is essential for communicating our perspectives to lawmakers and other stakeholders.

Early in the year, we took action to preserve the genetic privacy protections outlined by the Genetic Information Nondiscrimination Act (GINA). As strong supporters of GINA, we opposed the Preserving Employee Wellness Programs Act (H.R. 1313), a bill allowing employers to ask employees invasive questions about their and their families’ health, including genetic tests they may have undergone. We also encouraged members to contact their legislators and sign on to the ASHG opposition letter. More than 1,000 of you did so and it had a real impact: Our opposition to H.R. 1313 was widely reported in the media and since then, the bill has not moved forward in Congress.

In addition, ASHG supported a $2 billion increase in funding for the National Institutes of Health (NIH). We have seen a $2 billion increase in the NIH budget for 2018 and we ask that Congress continue the progress we have made. As we all know, we need robust, predictable, and sustainable federal funding to fuel scientific advances. Currently, federal agencies are operating under a “continuing resolution” (CR) set to expire December 22. With the deadline fast approaching, Congress needs to pass another CR to keep the government running into the new year.

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ASHG, along with representatives from other FASEB societies, participated in FASEB’s Hill Day this spring. (Credit: Dr. Scholes)

More recently, we opposed any changes to the tax-exempt status of tuition waivers within the U.S. Congress tax bill called The Tax Cuts and Jobs Act (HR 1), as proposed by the House (but not the Senate). The House provision changed the tax-exemption status of tuition waivers commonly granted to graduate students, and taxing them would create financial hardship for individuals with already modest incomes. Thanks to the efforts of concerned members and other scientists, the final version of the tax bill does not include such a provision.

Also, this year the Society released a position statement on germline genome editing. This statement is the latest in a series that the Society issues periodically on a range of genetics policy issues and uses of genetic information. Written by a workgroup led by Kelly Ormond and Doug Mortlock, and including perspectives and feedback from members, the statement gives the Society’s perspective on the use of CRISPR/Cas9 or similar tools to alter the genome of an embryo or germ cell.

To help you learn more, share current policy information, and contact legislators directly, we also launched a new Advocacy Center. This site makes it easy for members to take action by sending customizable messages to Congress on important science policy issues, as well as learn when ASHG is speaking out and how to get involved. It links to ASHG statements, blogs, and press releases on pending genetics policy issues.

ASHG is working hard to keep you informed and empower you to influence science policy. In the new year, it will take all of us becoming engaged to build on the Society’s advocacy progress in 2017.

Derek Scholes, PhD, is Director of Science Policy at ASHG, and Jillian E. Galloway, MS, is a Science Policy Analyst at ASHG. Learn more about ASHG’s activities in Policy & Advocacy. and share your thoughts on policy issues or ASHG’s efforts by emailing policy@ashg.org.

Inside AJHG: A Chat with Christian Schaaf

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month, we check in with Christian Schaaf to discuss his paper, “Functional consequences of CHRNA7 copy number alterations in induced pluripotent stem cells and neural progenitor cells.

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Christian Schaaf, MD, PhD, Baylor College of Medicine (courtesy Dr. Schaaf)

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

Christian: My work on copy number variation of chromosome 15q13.3 started with a patient I saw as a genetics resident on the genetics consultation service at Texas Children’s Hospital. As a physician-scientist, all my work has been inspired by patients, and my ultimate goal is to provide a deeper understanding of the mechanisms of disease, which then can be translated into new therapeutic avenues for the respective disorders.

AJHG: What about this paper most excites you?

Christian: There are two aspects that are most exciting to me. First, we have been able to generate a human model of disease, and we can measure functional consequences of a genomic change in the patient-derived cell lines. This may become particularly relevant as we begin thinking about pharmacologic intervention, as it allows us to test new drugs and compounds on these patient-derived neuronal cell lines prior to subjecting actual human patients to those drugs in clinical trials.

Second, one of the most fascinating findings of our study is the fact that increased genomic copy number of the CHRNA7 gene does not necessarily lead to increased functionality of the respective protein. This may have important implications on how we think about this duplication, and how we would consider approaching it therapeutically.

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

Christian: We have always been puzzled that for several genomic loci, both deletions and duplications of the same locus predispose to neurodevelopmental disorders that look somewhat similar. One would expect that opposing genomic events cause clinical phenotypes that are also in different direction. For 15q13.3, we now provide first pieces of evidence why opposing genomic events may lead to functional changes that are actually in the same direction. This could be the case for several other genomic disorders, and is kind of a paradigm-shifting concept.

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

Christian: For all trainees in the medical field: treat every patient with the care and curiosity as if you could learn something entirely new. All of my research projects started with individual patients. They continue to be the inspiration for everything that I do.

For all trainees and young scientists (MD and PhD): have a hypothesis for every experiment, but be completely open to the outcome. Do not “expect” a certain result. Some of your most important discoveries will originate in the unexpected.

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

Christian: I have four children: 6 years, 5 years, 2 years, and 6 months old. Life is crazy at home. Coming to the laboratory feels like vacation to me.

Christian Schaaf, MD, PhD, is an Assistant Professor at Baylor College of Medicine and has been an ASHG member since 2009.

How to Craft a Competitive Invited Session

Posted By: Heather Mefford, MD, PhD, 2018 Program Committee Chair

It may feel like we’ve just returned from ASHG 2017, but preparations are already underway for the 2018 meeting, taking place October 16-20 in San Diego. Invited session and workshop proposals are due on December 14, which is just under two weeks away. Here’s how to make your proposal competitive, and maximize its chances of acceptance by the Program Committee.

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Heather Mefford, Chair, 2018 Program Committee

What are Invited Sessions?

Invited sessions address the state of the science on a specific topic, in a cohesive two-hour session constructed to include its most exciting subtopics and scientific leaders. In contrast, invited workshops focus on a tool, skill, approach, or software in an interactive format.

Tip: Choose the right topic.

Proposals that do well have a cohesive, overarching theme that hasn’t been presented at recent meetings. Topics should have broad appeal to ASHG members and meeting attendees. Note that there are designated slots for educational topics, ELSI topics, and a session organized by trainees.

Tip: Choose the right speakers.

Invited sessions traditionally include four speakers, each of whom present for about 30 minutes. Competitive proposals involve presenters who push the field forward, while offering unique perspectives on the topic of focus. Choose speakers who represent diverse institutes, career stages, and genders.

Tip: Consider varied formats.

While invited sessions are often a series of didactic talks followed by Q&A, the 2018 Program Committee is open to other formats for this year’s sessions. If you’d like to propose a panel discussion, debate, or other format, contact ashgmeetings@ashg.org for guidance on how to submit your proposal.

Tip: Craft clear descriptions.

Successful invited session proposals have clear, detailed descriptions of each speaker’s talk. These should relate to the overall session theme and include recent data when possible. View sample proposals to see how your colleagues have introduced their speakers.

Tip: Contact the Program Committee.

The 2018 Program Committee is available to answer questions and provide advice as you think through your proposal – don’t be afraid to reach out to them!

Want more tips? Watch our video on how to craft a competitive proposal.

Heather Mefford, MD, PhD, 2018 Program Committee Chair, is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine. She is also an attending physician at Seattle Children’s Hospital in the Genetic Medicine Clinic.

Social Issues Committee Initiates New Duty to Recontact Statement

Posted By: Jillian Galloway, MS, Science Policy Analyst at ASHG

The ASHG Social Issues Committee (SIC) is taking the lead on an important issue affecting genetics and genomics researchers, namely the duty to recontact research participants. At ASHG 2017 in Orlando, the Board of Directors asked the SIC to draft a Society statement offering greater guidance on this topic.

Over the past few years, advances in next-generation sequencing technologies and the volume of genomic information produced have raised thought-provoking questions regarding the ethical, operational, and regulatory considerations of recontacting research participants about new genomic information that is clinically significant (such as a new interpretation of the pathogenicity of a variant harbored by participants). For individual researchers and their associated institutions, questions of whom, when, and how to recontact are daunting. What’s more, for many, the preliminary question of whether researchers have an ethical duty and/or professional obligation to recontact participants is not easily answered.

To involve the ASHG community early in planning the scope and key points of the statement, Yvonne Bombard (SIC chair) and Howard Levy (SIC member) presented this topic at a CoLab session during the Annual Meeting. They described how new IT advances make greater data sharing possible and could facilitate the dissemination of information from researcher to participant. They also outlined emerging questions when considering the duty to recontact, such as 1) What kind of information is relevant and useful for participants? and 2) How does one appropriately and responsibly inform participants and use technology to facilitate contacting and recontacting?

CoLab attendees provided many insightful comments useful for informing the ASHG statement. For example, they noted that research is not an open-ended commitment: funding ends and teams disband, raising questions about researchers’ duty to contact participants with new or updated information after the study ends. Attendees also discussed operational difficulties in recontacting participants or revisiting results. Furthermore, questions were raised about the appropriate method for contacting participants. Such comments highlighted the complexities of the issues and the challenges faced by researchers today.

As the SIC begins drafting the Society statement on this issue, we welcome you to submit your thoughts on the topic to policy@ashg.org. All comments submitted will be shared with the SIC.

Jillian E. Galloway, MS, is a Science Policy Analyst at ASHG. Learn more about ASHG’s activities in Policy & Advocacy.  

What You Need to Know About FDA Oversight of Genomics Research

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

With rapid DNA sequencing now routine, genetics researchers are increasingly testing the clinical utility of its application in various healthcare settings and the barriers to using genomic information in healthcare decision-making. In doing so, some are discovering that their research might be subject to a Food and Drug Administration (FDA) regulation known as the investigational device exemption (IDE) regulation. However, many in the genetics community are unfamiliar with this regulation.

To raise awareness of the IDE regulation, ASHG hosted a policy luncheon at ASHG 2017 that included representatives from the FDA, the research community, and the National Human Genome Research Institute (NHGRI). Presenters explained the relevance of the regulation for genomics research, described an experience of applying for an IDE, and made attendees aware of helpful resources available to the genomics community.

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(L-R) Policy Luncheon presenters Kate Donigan, Jonathan Berg, Cristina Kapustij, and Derek Scholes.

Katherine Donigan, PhD, from the Personalized Medicine Staff at FDA began the session by speaking about the IDE regulation itself and her office’s role in ensuring public health and safety while supporting innovative research and discovery. She explained that genomics research has made great advancements since the IDE regulation went into effect in 1976, and that research using next-generation sequencing where results are being returned to participants warrants consideration under the IDE regulation.

Studies can fall into one of three categories: IDE exempt, Nonsignificant Risk (NSR), and Significant Risk (SR). Only SR studies require FDA involvement, and Kate outlined the variables that her team uses to determine SR, such as the invasiveness of sample collection and the potential for false results. She advised researchers to reach out to FDA to talk through their proposed studies before applying for a grant, so that they know in advance if their research will likely be categorized as SR. This will facilitate a faster IDE application and approval process once grant funding has been awarded.

Jonathan Berg, MD, PhD, from the University of North Carolina then presented on his experience as a trailblazer in interacting with FDA regarding IDE regulations for genomic studies. Jonathan’s NC NEXUS project in the NSIGHT consortium explores the utility of exome sequencing for enhancing newborn screening by sequencing both healthy newborns and infants previously identified through newborn screening, and studying parental decision-making on the additional genomic testing. He detailed the multi-year long process his research group struggled through to become aware of, apply for, and eventually receive an IDE approval. Jonathan explained that he is supportive of FDA oversight but that the regulations need to be applied in a way that does not derail scientific research. He offered some words to the wise: get help! Discuss the risks involved in your research studies with your IRB or other institutional regulatory assistance staff, or consult with the FDA.

Cristina Kapustij, MS, from NHGRI rounded out the panel by outlining the support role her policy team offers to stakeholders and grantees embarking on human genetics research. She explained that NHGRI is working as a bridge to the FDA for researchers looking for guidance on the IDE process when they are designing studies or applying for grants. She described a workshop hosted by NHGRI in 2016 and drew attention to the NHGRI Points to Consider online resource.

The panel concluded with a Q&A session. Attendees asked great questions about diverse topics from funding to return results, retrospective research with biobank samples, streamlining the IDE submission process as technology continues to advance, and more! Check out the information below for more details on IDEs.

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Overview of IDE process and responsible parties (credit: NHGRI Points to Consider)

Resources

ASHG 2017 Policy Luncheon

NHGRI

FDA

Christa Wagner, PhD, is the 2016-17 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on the fellowship and application details, please visit the Genetics & Public Policy Fellowship website.

 

 

 

 

Inside AJHG: A Chat with Diego Calderon, Audrey Fu, and Jonathan Pritchard

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

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month we check in with Diego Calderon (@diegoisworking), a Stanford University graduate student, along with senior authors Audrey Fu and Jonathan Pritchard (@jkpritch), to discuss their paper, “Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression.”

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Diego Calderon, PhD student, Stanford University (courtesy Mr. Calderon)

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

Diego: Single-cell RNA-seq is a hugely powerful tool for finding novel fine-scale cell types in complex tissues. But if we’re interested in human disease, how can we prioritize potentially trait-involved cells, out of all the newly identified cell types, for further characterization? Our idea was to focus on cell types that tend to specifically express genes near mutations associated with the trait of interest. Surprisingly, when we started thinking about this project, there hadn’t been work published attempting to connect GWAS data and such findings from single-cell assays.

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

Diego: The development of RolyPoly allowed us to find finer-scale trait-associated cell types from complex tissues; particularly, we focused on neuropsychiatric traits and single-cell data from human brains. There had been hints of immune involvement in Alzheimer’s disease, thus we were intrigued to see this association with microglia, which are the brain’s immune cells. Additionally, there has been wonderful work clustering single-cells into cell states, which we can also scan for links with complex traits. For example, we found that actively replicating cell types from early timepoints of fetal brain development were associated with schizophrenia. These findings are exciting because they can be used to inform the development of cell type or state models that more specifically capture human disease processes.

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

Diego: When we began this project, there were only a limited number of human single-cell datasets publicly available. Earlier this year, plans for the human cell atlas were announced, which will result in large publicly accessible datasets of single-cell RNA-seq measurements. Our hope is that researchers can use our tool along with other single-cell methods to further our understanding of biology and complex traits.

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

Diego: As a young scientist, you should think deeply about your chosen scientific problem. However, it’s also worth considering how best to communicate your new ideas. The ability to make complex biological or computational concepts accessible is a skill that’s worth refining and will help advance your career regardless of your chosen field. As a result, it takes time and persistence to continue to refine your writing and ideas without becoming discouraged. It took us many months to finalize our manuscript.

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

When not in the lab, Diego enjoys throwing clay coffee mugs at the ceramics studio and eating a hot meal after a long day of backpacking. Audrey appreciates listening to opera and singing karaoke. Jonathan is fond of spending time with his family, searching for the best veggie burrito at Stanford, and running through the foothills of Palo Alto.

Diego Calderon, BA, is a graduate student at Stanford and has been an ASHG member since 2014. Audrey Fu, PhD, is an assistant professor at the University of Idaho, and has been an ASHG member since 2014. Jonathan Pritchard, PhD, is a professor of biology and genetics at Stanford, and has been involved with ASHG since 2002.

Expanding Role for Genetic Counselors: Good for Our Profession, Great for Our Patients

Guest Post By: Erica Ramos, MS, CGC, President-Elect, National Society of Genetic Counselors

As we observe the first annual Genetic Counselor Awareness Day on Nov. 9, I can’t help but be astonished by the changes in our profession and how they are shaping, and being shaped by, the exciting advances in how we diagnose and treat genetically-influenced conditions. As President-Elect of the National Society of Genetic Counselors (NSGC), I have never been more proud or excited to declare “I am a genetic counselor!” and share how we bring the voice of patients and clinicians to all areas and applications of genomics.

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Erica Ramos, MS, CGC (courtesy NSGC)

When I completed my genetic counseling training in 2001, I couldn’t have predicted that I would find myself working on the leading edge of clinical genomics. When I began working at a genomics biotechnology company in 2012, I was only the second genetic counselor on staff. According to the 2012 NSGC Professional Status Survey (PSS), a mere 0.5% of our profession was employed by R&D or biotechnology companies.

Four years later, the 2016 PSS showed this had doubled. Today, there are 17 genetic counselors at my company, working collaboratively with scientists, bioinformaticians, developers and executives, contributing our skills and expertise to areas such as medical affairs, market development, product marketing and strategic planning, and sharing the real-world impact that their work ultimately has on patients and their families.

Mine is just one example of genetic counselors’ expanding roles. We are leading patient-centered original research and are integral to Geisinger’s MyCode study, The Ohio State University’s Statewide Colon Cancer Initiative and All of Us, to name just a few. We are driving growth and change in clinic by branching into specialty areas including neurogenetics and psychiatric genetics. NSGC surveys tell the story: In the 10 years leading up to 2016, the number of specialty areas where genetic counselors work went from 14 to 33, a 135% increase.

Vast and exciting career opportunities are fantastic for the genetic counseling profession and ensure a bright future for those entering our field. But as good as this trend is for our profession and the 4,000 certified genetic counselors in the U.S., the benefits are even greater for other genomics professionals and, critically, to patients.

Genetic counselors have deep scientific and medical knowledge. Paired with our communications and counseling skills, we are a valuable resource in translating research advances in genetics and genomics to healthcare providers and patients. As media coverage of these advances expands, providers and patients often have questions about how these new discoveries impact their care. We unravel the complexities of research so that clinicians and patients receive clear, accurate and digestible information, regardless of their culture or background.

So, here’s to Genetic Counselor Awareness Day! Working together to improve appreciation and understanding of how we and our partners in genomics empower patients and their healthcare team and provide them with ever improving personalized attention and care.

Erica Ramos, MS, CGC, is President-Elect of the National Society of Genetic Counselors (NSGC). She has been a member of ASHG since 2014.