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.

New CME Program: Cell-free DNA Testing

Posted by: Karen Hanson, ASHG Health Professional Education Programs Manager

ASHG is proud to announce our newest health professional educational program, “Prenatal cfDNA screening”. In response to rapid developments in prenatal cfDNA technology and concerns about its incorrect use, we developed this program to address a need for genetics education within the OB/GYN community, in collaboration with the Mayo Clinic and with help from colleagues from Kaiser Permanente California.

A needs assessment of this group suggested that their biggest challenges were communicating the fundamentals of prenatal cfDNA screening with patients and helping patients understand screening results. Based on these findings, the new program uses a case-based focus to model patient communication and review the basic science behind cfDNA technology, as well as discuss methods for incorporating this test into clinical practice. Our content was developed and reviewed by a team of experts in the field of prenatal care. The result is a program that includes three online education modules built around pre-test and post-test patient encounters, video case presentations using a standardized patient to demonstrate the integration of cfDNA screening into clinical practice, and point-of-care educational tools.

Above: Health Professional Education Programs Manager Karen Hanson describes ASHG’s genetics education programs for providers.

Similar to our previous educational programming for health professionals, our goal for “Prenatal cfDNA Screening” is to improve the practice of medicine and patient outcomes. We’re hoping that this program helps health professionals improve communication with their patients regarding prenatal screening options in general and prenatal cfDNA screening specifically. To encourage participation, this program is modular, so that each part can be viewed separately at one’s own pace. In addition, it is CME accredited through the Mayo Clinic College of Medicine and Science.

Karen Hanson, MS, MBA, CGC, is Health Professional Education Programs Manager at ASHG. Read more about ASHG’s educational programs for health professionals.

How I Work: Karlene Coleman

Posted By: Chris Gunter, PhD, Member of the ASHG Communications Committee

We sat down with ASHG member Karlene Coleman, BSN, MSN, CGC, AGN-BC (Advanced Genetics Nurse – Board Certified), to learn more about her work providing genetic counseling, running a specialty clinic, and educating health professionals.

20170713_HowIWork-KarleneColeman
Karlene Coleman, BSN, MSN, CGC, AGN-BC (courtesy Ms. Coleman)

ASHG: Tell us about your position and how it fits into your institution and its goals.

Karlene: My position has two main parts: the first is that I follow up on and provide genetic counseling for genetic testing ordered through the Marcus Autism Center, which is the largest clinical center for autism care in the U.S. Second, I created a specialty clinic for 22q11.2 deletion back in 2006, and we have now seen over 700 families. I also give lectures in multiple training programs at Emory, including the Schools of Medicine and Nursing.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Karlene: I am a member of ASHG and the American College of Medical Genetics (ACMG), so I attend the annual meetings for both and read many journal articles from each. I also get GenomeWeb alerts. In addition, I am a member of the International Society of Nurses in Genetics (ISONG), and use their newsletters and webinars.

ASHG: What are your favorite genetics websites?

Karlene: Of course I use OMIM, GeneReviews, and Genetics Home Reference at NIH regularly. I also use a new site called ThinkGenetic, developed by a colleague at Emory, which is to help educate families and guide them through symptoms to come up with questions for their doctors or to self-diagnose genetic conditions.

ASHG: What are you currently reading/thinking about?

Karlene: We are using developmental questionnaires in our 22q clinic to identify the needs of the children over time, and we just submitted an abstract to ASHG 2017 looking at the reliability of these measures.

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Karlene: Serving as a resource for people all over the region on what to do and where to refer when they need to help specific patients. I just got a call yesterday from one of our physician liaisons after I had given them a lecture several weeks ago, and they are already calling to make referrals. It’s great!

Karlene Coleman, BSN, MSN, CGC, AGN-BC, is a Clinical Nurse Coordinator at the Marcus Autism Center at Children’s Healthcare of Atlanta. She has been a member of ASHG for over 20 years.

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.

20170613_ESHG-copenhagen
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.