Michelle Russel

College of Natural Science

Utilizing Genome Mutation Analysis Software to Enhance Student Learning, Preparation, and Engagement in Molecular Diagnostics

Tomorrow’s medical laboratory scientists will use modeling and analysis software to interrogate genomic data sets, providing critical information for the diagnosis and treatment of patients. Our proposed use of genomic analysis software will engage our students in practical problem-solving activities that prepare them for the future of their profession.

Project Solution:

We challenge all of our Biomedical Laboratory Diagnostics students to analyze, interpret, and correlate diagnostic laboratory information to patient health. In our molecular diagnostics series, we are teaching our students to be practitioners of genetic diagnostics and research. In order to prepare, they need to practice laboratory analysis and interpretation using software similar to that which they will see on the job when they graduate. Purchasing education packages for two particular software programs would allow us to create various interactive cases where the student could use software that they will eventually see in clinical settings to practice mutation identification/analysis, evaluate test quality, and predict implications for patient or research outcomes.

Mutation Surveyor® DNA Variant Analysis Software is used in research and diagnostic laboratory settings to assist with the analysis of sanger sequencing mutation detection of various types of single nucleotide polymorphism, insertions/deletions, and somatic mutations. The educational license for this program includes sample data sets that our instructors would use to teach analysis strategies and correlations of data to various outcomes.

NextGEne® is an additional software program that our instructors would use to introduce students to next-generation sequencing analysis in accordance with current clinical data reporting standards. This the current standard of genetic mutation analysis and would be particularly useful for students practicing genetic mutation analysis of large genomic data sets containing single nucleotide polymorphism, insertion/deletion, structural variant analysis, gene copy number variation, whole-genome alignment, transcriptome analysis, and transcription expression levels.

Giving our students experience with Mutation Surveyor® DNA Variant Analysis and NextGEne® Software would allow BLD undergraduate and graduate students to practice with genetic analysis software that likely would not see otherwise. Without educational practice, students would likely only have access to these programs via on the job training. However, there are few of these on the job training experiences available presently, and the ones that do exist have their own set of preconditions based on experience. How do they get the experience that opens the doors to the opportunity to get the training? With our purchase of these programs, we could provide it! If our students could learn to use these programs as part of their academic program, they would be able to prepare themselves uniquely with additional genetic analysis and interpretation skills that they might find it hard to get elsewhere. Furthermore, our use of these programs would allow unlimited practice for students to navigate a variety of clinical and research focused scenarios in genetic analysis facilitated inside the classroom. The software could also be used for student practice and discovery on their own with their student licenses using their personal computers and data sets. This would allow a variety of students who might never get the opportunity to work with this type of analysis access and the time and space to learn it at their own pace.

Mutation Surveyor® DNA Variant Analysis and NextGEne® Software licenses would allow the BLD instructors to create interactive study problems and provide student feedback on a variety of clinical and research genetic analysis scenarios and cases. One of the great things about working with computer analysis software is that it often gives immediate feedback, especially if something goes wrong. Seeing real analysis problems played out in real-time will give our students many opportunities to ask questions about the process and their instructors many opportunities to comment on their approach to the problems and their use of the tools provided. Faculty and students working together on problems of this sort creates an engaging environment that stimulates discussion, questions, and analysis of the students’ work in deep and exciting ways.

The students and instructors would be able to make real-time adjustments to analysis settings to map how these changes could affect genetic analysis and interpretation of results. See how changing settings and parameters affects outcomes is critically important for students, but they need to be able to do it in a “safe” environment where it is okay to “break” things. Students could also choose problems that are of particular interest for them to apply their knowledge, customizing their own projects to pursue their areas of interest while gaining important skills.

Finally, while we propose using this software in our molecular diagnostics classes, there are other courses where it might be useful as well including immunology, microbiology, pathology, and others.

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