Posted by: Dennis Drayna, PhD, NIDCD, National Institutes of Health
I’ve served as a judge for the DNA Day Essay Contest for a number of years now. Every year, I look forward to seeing the efforts of high school students across the world who are grappling with an interesting problem in contemporary human genetics.
This year’s essay question asks students to argue if consumers should or should not have direct access to predictive genetic testing. The results of their efforts vary, of course, but I never cease to be amazed at the level of sophistication displayed by many of them. If you have concerns about society drifting toward less trust of scientific knowledge, you’ll find many of the essays reassuring. All of the entrants’ efforts bolster the view that evidence-based critical thinking is alive and well among today’s motivated and ambitious young people, some of whom will constitute the future generation of our Society’s leaders.
One of the biggest changes I’ve noticed is the evolution in the students’ use of online resources. The traditional scholarly style, with ample use of references to relevant papers in the peer-reviewed literature, always represented a very high standard for students of high school age. The best essays always bore evidence of liberal use of PubMed, and they still do. However, Wikipedia provided an easier entry into this process, and as Wikipedia became a richer and more detailed resource, students began to avail themselves of it. Less ambitious efforts then began to show evidence of using simple Google searches, which themselves have become more effective over time. Some of the less stellar efforts now seem to rely on social media as an information source. Here, I find the chance to provide comments or feedback one of the more satisfying aspects of the judging process.
I have always volunteered as a Round 2 judge, and as far as I’m concerned, the less glamorous part of judging is done for us in Round 1, when the lower quality essays are removed before we Round 2 judges see them, so we’re typically distinguishing between fairly good, very good, and outstanding essays. I’ll admit that as a researcher who does very little teaching (and zero grading of exams or essays), judging these essays doesn’t feel much like any of my regular obligations. And, the workload is very manageable (made easier by the rubric), the website is intuitive and easy to navigate, and it’s always satisfying to contribute to the efforts of ASHG.
If you want to give back a little, judging ASHG DNA Day essays is an easy way to do it. And if we can provide a little support for developing the scientific workforce of the future, so much the better.
Dennis Drayna, PhD, is Chief of the Laboratory of Communication Disorders and Chief of the Section on Genetics of Communication Disorders at the National Institute on Deafness and Other Communication Disorders, part of the NIH. A longtime member of ASHG, he has served as a judge of DNA Day essay submissions since 2014.
Interested in judging DNA Day essays this year? Email firstname.lastname@example.org to sign up.
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.
Our 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 email@example.com.
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.
Posted by: Kate Garber, Chair of the ASHG Communications Committee
In September, I interviewed Neil Lamb, PhD, Vice President for Educational Outreach at the HudsonAlpha Institute for Biotechnology, about his career trajectory, favorite resources, and current projects.
Kate: Tell us about your position and how it fits into your institution and its goals.
Neil: HudsonAlpha is a non-profit organization in Huntsville, Alabama, that focuses on using genomics to improve human health and global sustainability. My team’s mandate is to create a more genomically literate society and to foster the development of the next generation workforce in Alabama. Our efforts encompass many different activities including teacher training workshops, the development of educational kits, courses and seminars on biotechnology for the greater Huntsville community, and even the development of educational apps. I work with an incredible team that makes this all happen, and these programs reached 1.5 million people during the last school year.
As part of our efforts, we have partnered with the Alabama Department of Education, specifically at the K-12 level. We want students to understand the growing importance of genetics and genomics, to develop ways to meet the educational standards on these topics, to help teachers confidently teach these subjects, and to get students to make connections between potential careers and the facts in their textbooks. As part of this work, we identify learning gaps related to genomics and ask, “How can we step in and address them?”
Kate: What have been some of the biggest surprises to you about working with your state government? Do you have any advice about working with non-scientists in these types of situations?
Neil: The biggest and most pleasant surprise has been how engaged people are about genomics. No matter what level I’m working at, many people are beginning to recognize its importance, and they all want to know more. This curiosity is a great starting point, and it means we can easily find a talking point that interests people and use that as a springboard.
When talking with non-scientists, look for an area of common interest between what you’re doing and what interests the person you’re talking to. You might have to talk about multiple things until you see that light of recognition. When you do find an area of common ground, grab onto it and use it as a point of reference to start making connections.
It’s important to keep your conversation as free of jargon as possible, at least when you start. We are so used to the detailed language we use with our peers, it’s hard to take a step back and have a more general conversation, but it is so important to have people walk away understanding the importance of your work and the help you need, that you really must put it in terms they can grasp.
If you want to talk to someone about a very specific topic, walk them into that content by scaffolding it to something they already know and understand. It’s very difficult for somebody to internalize new knowledge if they can’t tie it to something they already know.
I believe that when you use public funding for your science, you have an obligation to explain to the public what it’s about. And this community outreach aspect was very important to the founders of HudsonAlpha, so I have the support of the larger organization in this.
Kate: How did your previous experience lead you to this job?
Neil: I look back at everything from my graduate training on, and each of those things prepared me for what I’m doing now. My graduate training and time on the faculty at Emory gave me an understanding of the field, the language, and the vocabulary I have needed. After my PhD, I spent two years working at a church doing communications work and outreach to families, which gave me the comfort and confidence to step into challenging conversations in a sensitive way and to talk about science to non-scientists. While at Emory, I directed a research-based DNA testing lab, which gave me familiarity with the tools, instrumentation, and challenges of DNA variant detection and interpretation. I also taught medical students at Emory, which confirmed my passion for teaching and emphasized to me that I’m a much stronger educator than a research scientist.
This recognition helped with the shift in my career. All of these experiences help me, as VP of Educational Outreach, talk about complicated topics that are often fraught with emotional and ethical issues to a broad range of individuals. They’ve helped me find the right analogies and language, and really translate science going on here and elsewhere into tools, applications, and experiences that engage students, teachers, clinicians, and the public. What I do today, I could not have done without the skills I learned at each of those previous jobs.
Kate: What are your favorite genetics websites and resources?
Neil: I spend a lot of time looking for recent genetic discoveries that I can share, and I use what I find as the sources for an annual guidebook on biotechnology that I craft. I’m always reviewing papers and summaries looking for materials. My go-to sources are things like The Scientist, GenomeWeb, and Genome magazine, and I spend a significant amount of time with the “This Month in Genetics” section of The American Journal of Human Genetics. (Note from Kate, who writes that section in AJHG: I absolutely did not bribe him to say that!)
For K-12 stuff that I recommend for students and educators, I’m a really big fan of learn.genetics out of Salt Lake City and Genome: Unlocking Life’s Code, which was developed with NHGRI for an exhibit and whose website has ongoing content and resources.
Kate: What are you currently reading/thinking about/working on?
Neil: We are putting an intentional emphasis on bioinformatics and computation. We are working on a project with two- and four-year schools across Alabama where students will be computationally modeling the impact of DNA variants that we are identifying in patient populations here at HudsonAlpha. We are trying to help undergraduates learn some of the concepts and tools around genomics, including bioinformatics tools and comparative genomics, so it’s going to be fun to watch how that evolves.
At the high school level, the state of Alabama has a number of projects underway to help celebrate the state’s bicentennial in 2019, and we have one project called “Bicentennial Barcoding”. We are working with high school classrooms across the state in partnership with wildlife preserves, nature centers, botanical gardens, and communities to identify native Alabama plants and then DNA barcode them. We want students to recognize the rich diversity of plant life in the state and to think about ways to protect it, and then we want to tie genetics, biotechnology, and computation to it to give them a different angle to look at those plants.
These are just a couple of many projects they we have going on right now. They are great ways to look at how we can push what we do here at HudsonAlpha out into the community and really build excitement and enthusiasm in lots of places across the state.
Kate: What everyday thing are you better at than everyone else? What’s your superpower?
Neil: My superpower is communicating complex topics in an easy to understand way. That is the essence of who I am. There are a lot of things that I am not, but being able to communicate things in a way that people say “Oh, I get that!” – I’m really good at that, and I think that’s why this job at HudsonAlpha is a great job for me. It’s all about taking the science and its applications and finding ways to tell those concepts, tell those stories, so that people say “Wow! That’s cool!” or “Wait, that’s a job I could consider?” or “Now I understand that soundbite I heard on the radio”.
Kate: I would go one further and say that one of your other superpowers is getting people excited about this stuff. It’s not just the language you use, it’s also that you do it in such a way that I can see how excited you are and that makes me excited about it too.
Neil: One of my team’s philosophies is to think about how we can create sparks that ignite somebody else’s enthusiasm or love of learning or desire to want to know more.
Neil Lamb, PhD, is Vice President for Educational Outreach at the HudsonAlpha Institute for Biotechnology. He has been a member of ASHG since 2000, served on its Information & Education Committee from 2003-05, and chaired the I&E Committee from 2007-09.
Posted By: Michael Dougherty, PhD, ASHG Director of Education
You flash the clicker question on the screen and give your students about a minute to read it and vote. Your students don’t realize it, but you know it’s not your average clicker question. The distracters aren’t simply incorrect; they’ve all been carefully designed to reflect common student mistakes or misconceptions. As a result, their answers will tell you not only if students are wrong but precisely why.
“Okay, interesting responses,” you say. “Now, turn to your neighbor and convince her that your choice was the correct one.” You wander the aisle listening for the arguments students offer. You know that when they vote again, more of them will understand the correct answer. They’ve finally gotten the hang of this peer discussion technique. It took a little time and practice, but you’re already seeing improvements in learning.
Class time is valuable, and genetics education research has shown that it’s best devoted to problems and concepts that are most difficult for students. New teaching innovations such as peer discussion and concept inventories are leading to dramatic improvements in student learning in courses where it’s been implemented effectively. The adoption of student-centered teaching in genetics courses lags behind physics, astronomy, and math, but it’s catching on thanks to educational research by some of our own colleagues.
BEGIn Helps Educators Implement Student-Centered Learning
For a number of years, ASHG has been implementing Building Excellence in Human Genetics (BEGIn)—an intensive two-day workshop for undergraduate, graduate, and professional school genetics faculty, which has received rave reviews from participants (93% excellent or very good). Uptake, however, has been slow because of the difficulty of carving out two days from busy research and teaching schedules. To make the workshop’s content more accessible to more faculty, we’ve split it into two parts: a set of online modules, and a more compact workshop that requires only about six hours.
Content that is more foundational, theoretical, and didactic is now available in three online modules that can be used by faculty members at their convenience. Although this is online, the content isn’t all passive. There are questions and tasks embedded within the presentations to keep faculty engaged and to model some of the techniques you should be using with students.
The workshop has been reserved for the hands-on practice necessary for a confident and successful transition from lecture-based teaching to student-centered instruction. The format is a “situated apprenticeship,” which means you will do the things you’re learning about. ASHG has been conducting the BEGIn workshops on university campuses to eliminate the need for faculty to travel. We are hoping more faculty will now be able to take advantage of this valuable program.
Posted by: Michael Dougherty, PhD, ASHG Director of Education
What do adolescents think about genetic testing – in particular, clinical recommendations to defer genetic testing for adult-onset conditions? We are beginning to have an answer, thanks to a research collaboration involving ASHG, Geisinger, and Sarah Lawrence College. Late last month, I had the opportunity to present our initial analysis at the 2017 European Human Genetics Conference (ESHG 2017) in Denmark.
First, for those who haven’t been to Copenhagen, it’s a beautiful city that I highly recommend. Deep history, friendly people (almost all of whom speak excellent English), and the convenient mass transit that is so typical of Europe. Walk along the canals or climb the external staircase to the top of Vor Frelser’s Kirke (Our Savior’s Church). An hour north of Copenhagen, Kronborg Castle, which is the model for Shakespeare’s Elsinore in Hamlet, is an especially nice day trip. If you’re adventurous, try the Danish national meal, ‘stegt flæsk,’ a delicious crispy pork dish, which came with the following warning in our restaurant’s menu: “Ask your waiter before ordering”! But now, back to the research.
Little is known about how adolescents view genetic testing, especially the psychosocial impacts of the benefits and harms frequently discussed by experts, yet clinical practice often involves decisions that may affect them. Our research used data from ASHG’s annual DNA Day Essay Contest entries to characterize adolescents’ views.
ASHG’s 2016 DNA Day Essay Contest question asked high school students to identify an adult-onset genetic condition and to defend or refute the recommendation in ASHG’s 2015 position statement to defer genetic testing until adulthood. Over 1,200 essays from 45 U.S. states and 22 non-U.S. countries were assessed using thematic, mixed-methods analysis. Students identified 100 conditions, but 75% chose one of five more familiar disorders, including Huntington disease, hereditary breast and ovarian cancer (e.g., BRCA), and Alzheimer’s. Across all conditions, roughly equal numbers of students chose to defer testing as to not defer.
We then dug deeper to examine students’ choices regarding specific conditions, such as testing for a BRCA predisposition to breast and ovarian cancer (BRCA) and for Alzheimer’s disease (AD), which differ considerably in medical actionability. Here some statistically significant differences began to emerge. With AD, nearly two-thirds of students chose to defer testing, whereas with BRCA, fewer than half chose to defer.
The reasons students gave to justify their decisions were sophisticated and often matched those reflected in clinical guidelines and ethical discussions. Reasons to defer often included risk of psychological harm to the minor or the uncertainty of predictions arising from test results (e.g., ApoE4). Reasons not to defer included the benefits of alleviating uncertainty and preparing for increased surveillance (e.g., early, regular mammograms).
The rich data provided in the students’ essays will be mined for additional insights that may inform the development of future recommendations, but even now it appears clear that the decisions of mature adolescents should be taken seriously by clinicians.
Michael J. Dougherty, PhD, is Director of Education at ASHG. This research collaboration’s work was presented at ESHG 2017 as a poster and featured in the meeting’s Best Posters Session.
Posted by: Kanika Pulliam, PhD, and Evelyn Mantegani, BA, ASHG Education Department
Happy DNA Day! Every April 25, we commemorate the completion of the Human Genome Project in 2003 and discovery of the double helix of DNA in 1953. ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest.
Open to high school students worldwide, the contest asks students to examine, question, and reflect on important concepts in genetics. This year’s theme was gene therapy. Students were asked to choose one modern example of gene therapy (since 2005), describe the disease or condition researchers are attempting to treat, and explain how the therapy or approach might repair the underlying cause of the disease or condition.
We received over 1100 essays from 38 U.S. states and 21 non-U.S. countries. Essays went through three rounds of scoring by ASHG members, who selected a first, second, and third place winner as well as 11 honorable mentions. ASHG will award monetary prizes to winning students as well as grants for genetics laboratory equipment to eligible teachers.
“This year’s essays continue the tradition of high-quality submissions…that we have seen for the past 12 years, and their enthusiasm for the science reflects the excitement that our members feel about their work,” said Joseph D. McInerney, MS, Executive Vice President of ASHG, in a press release.
Adele Peng, a freshman at Thomas Jefferson High School for Science and Technology in Alexandria, Virginia, received first place for her essay on using zinc finger nucleases to immunize against HIV. Sophia Spiegel, a junior at Bergen County Academies in Hackensack, New Jersey, received second place for her essay on using recombinant adeno-associated virus vectors to treat Leber’s Congenital Amaurosis. And Alvin Ya, a senior at Poolesville High School in Poolesville, Maryland, received third place for his essay on potential uses of CRISPR to treat muscular dystrophy.
For a full list of winners and honorable mentions, teachers, and excerpts from winning essays, check out the DNA Day 2017 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.
Kanika Pulliam, PhD, Educational Programs Manager at ASHG, and Evelyn Mantegani, BA, Educational Programs Assistant, organized the DNA Day Essay Contest for high school students. Learn more about ASHG’s efforts in K-12 education.