Nothing About Us Without Us

Shortly after moving to Salt Lake City and starting school at the University of Utah, Janie DeFriez was diagnosed with Retinitis Pigmentosa, an incurable and progressive eye disease. With this new diagnosis and knowing her vision will continue to degenerate, she felt she needed to change her future plans when it came to school, research and her career. However, her perspective changed when she was accepted into the GURU Program, a National Institutes of Health-funded research initiative at the U for students who identify as having a disability. 

“Through this program, you can have a disability and be just as involved as anyone who doesn’t have a disability and it’s so important because you can bring so much to the table,” said DeFriez, who is studying biology and hopes to create a career as a health care practitioner specializing in genetic counseling. “You have valuable insight into a huge proportion of our population and you’re bringing a whole new perspective.”

Currently in its second year, the first-of-its-kind program is designed to give undergraduate and graduate students at the U who identify as having a disability the opportunity to join a research team focused on the ethical, legal and social issues raised by genomic science and genomic medicine. The ultimate goal is to provide students with a combination of mentorship, research and curricular resources that will maximize their potential for moving on to the next stage of their academic or professional career.

“The GURU program is about embracing the idea of ‘nothing about us without us,’ a term often used in the disability community” said James Tabery, associate professor of philosophy and co-director of the program alongside Jeffrey Botkin, professor of pediatrics. “The program includes an enormous community of scholars from law, medicine, humanities and fine arts that wrestle with difficult issues revolving around genetics. The idea is that we should have people with lived experiences with disabilities, so they can shape the conversations and the way we approach the research.”

As part of the NIH’s National Human Genome Research Institute Diversity Action Plan, the $500,000 grants have traditionally supported programs for historically underrepresented communities. However, this is the first program in the nation that focuses on disability. It supports two undergraduate students and two graduate students each year and provides them with multiple mentors, including Tabery, a separate U faculty mentor as well as a scholar outside the U who identifies as having a disability.

According to Tabery, the idea for the program came about because the world of genomics too often ignores the inclusion of people with disabilities in the conception and design of research that impacts the very people living with disabilities. This exclusion has led to ideas and policies that members of the disability community have seen as implicitly or complicity conveying the idea that the world would be better off without disabled people and that disabilities are something to be avoided rather than accommodated.  

“The reason it’s so difficult to live in the world with a disability is not because there’s something biologically wrong with a person but largely because we live in an environment – engineered mostly by able-bodied individuals – that doesn’t make it feasible for that person with a disability to navigate,” said Tabery.  

Research Experience

Through the program, DeFriez, who graduates in December 2019, is gaining experience not many undergraduates often obtain. Last year, she was able to complete a literature review, build an abstract to submit to conferences and prepare and give presentations both locally and nationally. At the National Human Genome Research Institute’s annual trainees meeting, for instance, DeFriez presented her research to an audience of hundreds of faculty and students from all over the U.S. who were supported by NIH grants. These types of opportunities are traditionally only available to graduate students.   

“This has been such a unique experience because when I was looking for opportunities all I found was lab work,” said DeFriez. “When you do that, you might not be an author on the end results and you’re just doing repetitive and basic tasks. Through this program, I’ve been involved in every single step of the research process.”

DeFriez and her faculty mentor Avery Holton, associate professor of communication, are looking at the conversation around genetics and genetic screening on social media to better understand attitudes and concerns about testing. As a secondary study, they’re looking at the misinformation that surrounds this conversation – who it’s coming from and how their claims are being substantiated.

“This can help physicians and genetic counselors figure out why people are coming in with certain ideas or attitudes and they can head that off because they already know what kind of misinformation they are armed with,” said Holton, who has a certification in disability studies from the Texas Center for Disability Studies.   

DeFriez is currently working on a research proposal that she designed herself which examines how healthcare workers, such as nurses and physician assistants, perceive and think about genetic technologies and genetic literacy in their own work.

“Janie will have a research pathway that most undergrads don’t have and she’s already a translational scholar,” said Holton.

Through the GURU program, students can help shape research projects on a range of topics, such as an examination of how tools from theater and performance theory can improve medical students’ ability to deliver difficult news to patients, a study of the history of involuntary sterilization in Utah, an investigation into the ways that public DNA databases can be used for criminal justice inquiries and many others.

The program is open to any student from any discipline who identifies as having a disability (visible or invisible) and the program directors strive to provide complete privacy. Regardless of how they choose to be identified – if at all – the student participants provide significant insight on how disabilities are perceived.

“The program helps students recognize that they still fit into the work process and they can still be major contributors and they can use the disability label and definition anyway they choose. They don’t have to let themselves be defined by it or they can let it be part of who they are,” said Holton.

Students interested in applying for the 2020-2021 academic year, or learning more about the program can visit https://uofuhealth.utah.edu/uceer/guru1.php.