How can we successfully educate and mobilise communities, when it comes to genetic disorders?

Raising awareness about genetic disorders is not only about stating the facts. To all of us who are involved with genetic disorders in any way, our ability to pass impactful information goes far beyond sharing relevant content. It’s also about engaging with communities emotionally, no matter their diversity in social structure, value systems or cultural understanding.

So, the question is, what is the best way to effectively communicate about genetic disorders to educate and mobilise communities, simultaneously? Our very own Anne Schack, genomics researcher, might have the answer.

 Role-playing as a way to create empathy
On December 1st, Anne successfully gave a lecture within the course ‘’Introduction to University Pedagogy’’ to the 1st-year students of the Science Education Department at the University of Copenhagen. The lecture was part of Anne’s PhD, entitled “Development of a novel, cost effective diagnostic tool for detection of rare genetic disorders in humans using Nanopore sequencing technology”.

The students who attended Anne’s lecture had diverse academic backgrounds, including ecology, chemistry, molecular and cellular pharmacology, cell- and neurobiology, drug delivery and biophysics of biopharmaceuticals, cell biology and physiology, and sociology. Considering the diversity of the backgrounds and the entry-level seniority of their academic level, Anne chose to give an introductory lecture about the challenges that families with genetic disorders face, focusing on the burdens, both mentally and financially, as well as the timeframe for diagnosis.

That being said, Anne’s purpose was not to give them an in-dept analysis about rare genetic disorders and human karyotype, but, rather, get them involved, interact and actually understand and feel the long journey that families have to go through to reach an accurate diagnosis. Therefore, the best way to achieve her goal was to create a role-play, where students would act as general practitioners (GPs) and parents of the main teen boys, Bob, Bob-bob and Bobby.

The game
First, she gave them their casefiles, including notes about the physical and mental characteristics of the three heroes. In the beginning, Anne asked the students to read and discuss the cases. Next, she asked them to tap into the GP’s role and decide how they would handle these boys and their parents; what would they do, send them home? Take a blood sample? Send them to the psychologist? The students were invited to place a small note on each of the casefiles, indicating their approach. Not surprisingly, all students opted for the blood sample. Next, Anne told the students that, following a blood analysis, the results turned out good.

A few weeks later, the three teen boys were back at the GP’s office. Then, Anne added a specialist in the options to choose from. The students were once again invited to place a note on the casefiles, mentioning how they would handle the boys, this time from a GP and parent’s perspective; send them home? Take another blood sample? Send them to a psychologist? Or a specialist? Students chose to send the three boys to the specialist. Anne reminded them that it takes time to get an appointment to a specialist. After the three boys were sent to a specialist for a first screening, a few weeks later, they were back to the GP’s office.

Once again, Anne invited the students to discuss openly about the best approach from a GP and parent’s perspective, and gave them once again the same options as before; send them home, take another blood sample, send them to a psychologist or another specialist. Again, the students subscribed another blood sample and advised the three boys for a visit to another specialist. The game went on and on for 10 minutes. Nevertheless, none of the three heroes, Bob, Bob-bob and Bobby, seemed to get any better, despite the numerous blood tests and visits to specialists.

Finally, Anne told the students that two of the three boys were diagnosed with Klinefelter, a rare genetic disorder, where boys are born with an additional X-chromosome. Anne then asked the students how long they estimated it took the two boys to get the diagnosis. Most students answered roughly 2 years. Next, she asked how much money they thought the diagnosis would cost for the Danish healthcare system, considering that healthcare in Denmark is free of charge. Students took a guess by at least 90% off the real figure.

The students were astonished to hear that it takes up to 8 years before an accurate diagnosis is confirmed, while the lifetime cost for diagnosis and full care amounts to 20 million DKK (nearly 3 million USD)! The students could just not imagine the magnitude of the mental cost for the boys and their families, and the fact only 25% of Danish boys with Klinefelter disorder get actually diagnosed.

At the end of the lecture, all students were asked to give feedback. Here are some of their comments.

Q: What did you like in particular about the lesson?

A: “How she stated the problem and make students interact about solving the problem; it was very nice.”

“The ‘role game’ with the illustrated papers she designed. Her way of presenting was very lively and engaging.”

“I really liked the prepared material – very well done. I liked the amount of participation. I worked very well in a small setting where the teacher can always be present.”