Behind-the-Scenes: Developing the DNA Day Essay Question

Posted By: Evelyn Mantegani, BA, ASHG Education Coordinator

For teachers and students participating in the DNA Day Essay Contest, each year’s question seems to appear on the website out of thin air. While that would be simpler for us on the Question Committee, it wouldn’t be any fun.

20180118_DNAday-logoOur goal every year is to craft a challenging, thought-provoking, and current question. We often have a hard time narrowing down our choices because of our excitement for the potential answers from students, and turn to a variety of resources to help.

Soon after celebrating DNA Day on April 25, we launch into discussions for the next year’s question. This year’s Question Committee included myself, the rest of the Education Department, our former Genetics & Education Fellow Teresa Ramirez, and our former Executive Vice President Joe McInerney. First, we look over questions from previous years to determine what worked and what didn’t. We consider a question to be less successful if there are fewer submissions or it has a concept too difficult for students to grasp. We then look through a list of potential questions that has been built up in recent years. We pick our favorites, alter some, add on to others, and brainstorm new questions based on what is new in genetics. What follows is weeks of discussion about how to shape our top choices to be both challenging and accessible to high school-aged students around the globe.

This part of the process is often the most difficult, as we try to figure out how to get the wording perfect. When satisfied, we send three pilot questions to a group of teachers to vote and critique via survey. We ask questions like whether students would understand the question prompt and whether they would be interested in the question topic. Our pilot group of teachers are longtime contest participants who have submitted more than four essays each year over the past five years and are from public and private schools, as well as from various states and countries. Based on their vote, our 2018 question, which asks students to argue if consumers should or should not have direct access to predictive genetic testing, was chosen as the winner.

Now that we have finalized the question, we are excited to see the responses. I think this year’s question will be especially thought-provoking because direct-to-consumer genetic testing is becoming increasingly popular and accessible. And now, it’s on to the contest.

ASHG Members: If you would like to participate as a judge in this year’s essay contest, look out for a recruitment email in February. Please keep in mind that you must be a current ASHG member to judge DNA Day essays. If you have any questions, please email dnaday@ashg.org.

Students and Teachers: We are now accepting essay submissions via the DNA Day website. The deadline is March 9.

Evelyn Mantegani, BA, is Education Coordinator at ASHG. For more information on ASHG’s programs for K-12 students and teachers, visit the education website.

Inside AJHG: A Chat with Barbara Evans

Posted By: Sara Cullinan, PhD, Deputy Director, 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 Barbara Evans of the University of Houston, to discuss her Commentary, “HIPAA’s individual right of access to genomic data: reconciling safety and civil rights.”

Through such Commentaries, AJHG encourages individuals in the genetics community to share their personal views on a policy issue. Distinct from journal editorials and official ASHG statements, it is our hope that these commentaries will help spur discussion within the field.

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Barbara Evans, University of Houston (Credit: S. Chandler)

AJHG: How did you become interested in this topic?

Barbara: Last summer, I was getting a lot of calls from research participants who were having trouble exercising their HIPAA right of access to their own genomic data. The HIPAA Privacy Rule is a U.S. federal privacy law. It grants people a right to obtain copies of data about themselves that is stored at HIPAA-regulated facilities. Since 2013, the Privacy Rule protects genetic data and, since 2014, its access right extends to data stored at HIPAA-regulated labs. People heard that they have a right to see their data, so naturally they wanted to see it. Many were being told “no.” Law professors play an informal role as society’s help line for questions about the laws we write about. I write about HIPAA, so I’m like the canary in the coal mine if a new HIPAA problem is emerging: my phone starts to ring. I checked around, and other HIPAA lawyers were getting those same calls from frustrated research participants. “Strange…why now?” we wondered. It seemed worth looking into—which, for a Law Prof, means you write an article. This is the article.

AJHG: What about this topic most interests/concerns you?  

Barbara: Regulatory lawyers are like primary-care docs: when someone shows up with a regulatory problem, you order a battery of diagnostic tests. The first test you run is to trace back in legal history till you find the statute (the Act of Congress) that gave rise to the regulation. Like most people, I always assumed that HIPAA’s access right must flow from the HIPAA statute. That’s true, but with a fascinating twist. As it relates to genetic information, HIPAA’s access right flows from a mandate Congress laid down in the Genetic Information Nondiscrimination Act of 2008. It’s a civil right! That fact has impacts that my commentary explores.

What concerns me most? Under the U.S. system of law, one of the worst ways things can go wrong in a democracy is if government agencies, which are supposed to protect people, take actions that deprive people of their civil rights. Your right under HIPAA to see your own genetic information is a federally protected civil right. That limits the range of actions regulators like the U.S. Food and Drug Administration and the Centers for Medicare and Medicaid Services, which regulates clinical labs, can take to block people’s access to their own genomic data. My commentary hopes to spark a dialogue about ways to address valid safety concerns about individual data access, without violating people’s civil rights.

AJHG: Tell us a bit more about the bigger picture—for scientists and the general public.

Barbara: Using people’s genomic data in research offers huge benefits to society, but it exposes people to privacy risks and other threats to their civil rights. Dating back to the dawn of the information age in the early 1970s, Congress has approved policies that let researchers use people’s data to advance public health and research. The quid pro quo is that Congress has consistently stood by the idea that if researchers have broad access to your data, then you should have broad access, too. Doesn’t that seem fair?

People who want to block individuals’ access to data need to appreciate that, over the past 50 years, Congress gave this matter a lot of thought and commissioned multiple ethical analyses. What they found is that if you want to take people’s access away, you can do so. But in return for taking people’s access away, you would then need to severely curtail researchers’ access to people’s data as an alternative way to protect people’s civil rights. So which world do you want? In World 1, researchers and people both have broad access to the people’s data. In World 2, neither group has access. Those are the two ethical options. It’s just not ethically defensible to have a World in which researchers have broad access to people’s data, but the people do not.

AJHG: What advice do you have for trainees?

Barbara: If your job doesn’t excite you and make you feel useful most of the time, get another job. Risks work out more often than we are led to believe. Take them. You hold your talents in trust, and you have a fiduciary duty to shepherd your talents to a green pasture where they can thrive.

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

Barbara: It’s generally tranquil, but last year was anything but with Hurricane Harvey, 52 inches of rain, fences down, and administering a portfolio of family interests across Texas. The saving grace is the lack of speed limits on rural Texas highways and discovering—in the fullness of middle age—the joy of really fast cars.

Barbara Evans, PhD, JD, LLM, is an Alumnae College Professor of Law and a Professor of Electrical and Computer Engineering at the University of Houston.

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!

 

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.