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.

Congrats to the 2017 DNA Day Essay Contest Winners!

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.

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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.