DNA Day Wins ASAE Power of A Award

Posted By: Mona Miller, ASHG Executive Director

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We are pleased to share that our National DNA Day Essay Contest has received an ASAE Power of A Silver Award. These awards recognize a select number of organizations annually that distinguish themselves with innovative, effective, and broad-reaching programs that positively impact the United States and the world.

ASHG’s DNA Day Essay Contest began in 2005 and is open to students in grades 9-12 around the world. Participants are encouraged to work with their teacher to write a 750-word essay responding to the year’s question. The question is selected with the goal of pushing students to examine, question, and reflect on important concepts in genetics, which are not normally covered in a typical high school biology curriculum. The goal of the question is for students to expand their knowledge of human genetics and to use evidence-based critical thinking in their response.

The contest has grown from around 300 essay submissions in its first years to over a thousand submissions in 2018. This year, ASHG received essays from 43 U.S. states and 23 countries who explored how genetics is informing, shaping, and changing our lives, after which more than 350 ASHG members evaluated the results for accuracy, creativity, and writing.

The contest also engages our members, who act as reviewers and judges for the contest, in an activity that ties them to public outreach and creating the next generation of geneticists. Each year, around 500 members volunteer for this rewarding and worthwhile experience.

The DNA Day Essay Contest has become a signature of ASHG and we are proud of the high number of participants and member volunteers, the satisfaction of our volunteers, and the chance to expand students’ education of human genetics.  We are thrilled to have been recognized for this long-standing program that is an embodiment of ASHG engagement and creativity.

A big thank you to all teachers, students, and member volunteers who have participated over the years!

 

Welcome HHMI-ASHG Fellow, Sarah Abdallah

Posted By: Ann Klinck, ASHG Communications and Marketing Assistant

ASHG is excited to be partnering with the Howard Hughes Medical Institute (HHMI) for the HHMI-ASHG Medical Research Fellowship. We’re happy to welcome third-year Yale medical student, Sarah Abdallah, to the position.

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Sarah Abdallah, HHMI-ASHG Medical Research Fellow (Courtesy Ms. Abdallah)

This program allows medical, dental, and veterinary students to take a year off from training and perform mentored laboratory research with support of a grant. “Our hope is that the experience will ignite students’ passion for research and encourage them to pursue careers as physician-scientists,” says David Asai, HHMI’s senior director for science education in a press release.

Sarah was interested in the fellowship because “it seemed to provide access to a community of scientists and to enriching experiences on top of my research, like attending conferences and meetings.”

Sarah’s research is focused around obsessive compulsive disorder (OCD). Specifically, it involves looking for post-zygotic variants in whole-exome sequencing data from individuals with OCD and their parents. These variants arise spontaneously and are not inherited from parents. By identifying the post-zygotic variants, it may be possible to understand the contribution of such variation to OCD development, identify risk genes, and eventually find new treatments.

“I am hoping this project will contribute to the collective understanding of the genetic basis of OCD. Many people with OCD do well, but I have seen firsthand how it can present as a very disabling, persistent disorder, and current pharmacologic treatments are not completely effective for all patients,” Sarah said.

ASHG member and Sarah’s primary mentor, Thomas Fernandez, MD, is an assistant professor in the Child Study Center and of Psychiatry at Yale. Another ASHG member and her co-mentor, James Noonan, PhD, is an associate professor of genetics at Yale.

During her fellowship, Sarah is hoping to gain more experience in computational genomics and is seeking guidance on how to combine her clinical and research interests into a career. She trusts that people like Dr. Fernandez will be able help her find the right path. She is considering a career in child psychiatry and pediatrics, but “either way, I hope to keep contributing to research on the genomics of neurodevelopmental disorders along with my clinical practice,” she said.

Launched 29 years ago, the HHMI Medical Research Fellows Program supports each Fellow through a year-long research project with a mentor of the Fellow’s choosing, and facilitates peer networking among Fellows and alumni as well as seminars with senior investigators. For more information, see the Program website.

 

Genetics Outreach and Donations at Calvin Coolidge Senior High School

Posted By: Kanika Pulliam, Senior Manager, Education and Career Development Programs

On the overcast and rainy morning of May 10, the ASHG Education Team (Kelly Ventura, Senior Director of Education and Membership; Karen Hanson, Senior Manager, Education Programs; Evelyn Mantegani, Education Coordinator; and myself) headed to Calvin Coolidge Senior High School, a public school in northwest Washington, DC. The school houses an Academy of Health Sciences, which prepares students for college and careers in health-related professions.

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The ASHG Education Team talked genetics and related careers with students at Calvin Coolidge Senior High School in Washington, DC. (courtesy Kelly Ventura)

As ASHG was preparing to move our main offices to a new building, we discovered a lot of new and gently used lab equipment and supplies in our storage room. There were things like a PCR machine, water bath, and DNA gel electrophoresis items. The supplies were previously purchased to facilitate experiments with educators who developed lesson plans for high school students. With no future plans for the supplies, we decided to donate them to a local high school, and identified Coolidge High School with the help of former ASHG Genetics Education and & Engagement Fellow Teresa Ramirez.

The day of the visit, Kelly and Karen graciously drove in their monster cars for us to load up and transport the many boxes to the school. We were greeted by Zakiya Edens, Coordinator of the Career Academy. She led us to the Academy of Health Sciences room, where we discussed the science program and its strategy to motivate students to come to class and maintain good grades. Students in this special academy participate in additional classes and programs on top of their regular curriculum to prepare for college.

We then met with some academy students, followed by a biology class that was discussing basic genetic concepts and the structure of DNA. Karen and I talked about our roles at ASHG to give the students an idea of career options in the sciences beyond traditional professions like scientist or medical doctor. I shared how they can use their background and love for research to educate scientists and clinicians interested in human genetics. Karen connected to the students by discussing her role as a genetic counselor for the past 25 years and showed them how genetic counselors work with a team of medical professionals to offer the best advice to patients.

We enjoyed the experience of chatting with teachers, administrators, and students. We are now working with Coolidge High School to organize a visit from an ASHG Genetics Education Outreach Network (GEON) volunteer member, to help the teachers go through the donated items and plan experiments for the new school year. GEON is a network of ASHG members who volunteer their time to assist science teachers in building understanding of human genetics among students and the general public.

Kanika Pulliam, PhD, is Senior Manager of Education and Career Development Programs at ASHG. For more on ASHG’s programs for science students, visit our K-12 education website.

Celebrate DNA Day 2018 with ASHG

Posted By: Jannine Cody, PhD, Chair, ASHG Information & Education Committee

Happy DNA Day! Every April 25, we commemorate the discovery of DNA’s double helix structure in 1953 and the completion of the Human Genome Project in 2003, two key milestones in genetics. A variety of DNA Day events are taking place worldwide and online, including the debut of our ’15 for 15′ infographics on recent advances in human genetics – check them out!

ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest. Open to high school students worldwide, this year’s contest asked students to share their views on whether medical professionals, such as medical geneticists or genetic counselors, should be required for all genetic testing, or if consumers should have direct access to predictive genetic testing.

We received over 1000 entries from 43 U.S. states and 23 countries. Essays went through three rounds of scoring by ASHG members, who selected a first, second, and third place winner as well as 10 honorable mentions. (Want to participate next year? Read Dennis Drayna’s blog post on the judging experience.)

The winning essays were thoughtful and nuanced, reflecting a variety of views and a sophisticated consideration of the issues, and we were excited to see high-quality entries from several countries around the world. We awarded first place to Diane Zhang, a junior at Fox Lane High School in Bedford, N.Y.; second place to Ilan Bocia, a senior at YULA-Boys in Los Angeles, Calif.; and third place to Nadia O’Hara, a freshman at Pechersk School International in Kyiv, Ukraine.

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For a full list of winners, honorable mentions, and teachers, and to read the winning essays, check out the DNA Day 2018 Winners. Through this contest and our other K-12 initiatives, we hope to encourage young people to explore genetics and inspire the next generation of ASHG members and leaders.

Jannine Cody, PhD, Professor of Pediatrics at the University of Texas Health Science Center at San Antonio, is Chair of ASHG’s Information & Education Committee. Learn more about ASHG’s K-12 education programs.

Judging DNA Day Essay Submissions: A Look Inside the Process

Posted by: Dennis Drayna, PhD, NIDCD, National Institutes of Health

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Dennis Drayna, PhD, NIDCD (photo courtesy Dr. Drayna)

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 dnaday@ashg.org to sign up.

Innovate Your Genetics Teaching with ASHG’s Revamped BEGIn Program

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

20170928-begin-logoFor 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.

The BEGIn online modules are now available for viewing, and you can arrange an on-campus workshop by emailing education@ashg.org.

Michael Dougherty, PhD, is ASHG’s Director of Education. Learn more about BEGIn and other ASHG programs for genetics education online.

Teens’ Nuanced Views about Genetic Testing, at ESHG 2017

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.

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Nyhavn waterfront, Copenhagen, Denmark. (Credit: Michael Dougherty)

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.