Since the inception of Keck Graduate Institute ‘s Master of Science in Human Genetics and Genomic Data Analytics (MSGDA) program, Program Director Dr. Barbara Fortini has developed a mutually beneficial partnership with the startup Genomenon.
“Genomenon is a genomic health IT company that is committed to supporting KGI in training the next generation of scientists,” Jeffrey Bissonnette, Genomenon’s director of genomic curation, said. “With our partnership, Genomenon provides KGI students in the MSGDA program with free professional licenses to Genomenon’s Mastermind Genomic Search Engine. We have had the tremendous opportunity to work with KGI students as summer interns and capstone projects and employ KGI graduates as variant analysts.”
The idea for Genomenon was born from CSO and co-founder Dr. Mark Kiel’s clinical practice and genomics research. He had grown frustrated with the inefficient, error-prone process of manually searching and analyzing the rapidly growing medical literature for disease-related genes and variants.
As a solution, he assembled a team of experts to connect patient DNA data with the massive medical research database. The Genomenon team built the Mastermind Genomic Search Engine, which contains all the disease-gene-variant-phenotype-therapy relationships in the scientific literature.
This allows researchers to efficiently search biomedical literature for references of genes and genetic variants, rapidly filtering out all the irrelevant information. One notable feature is that the software is partially automated but has scientists reviewing the records and helping curate the data.
The software is now used worldwide for clinical decision-making, genomic research, and pharmaceutical drug discovery.
Fortini met Kiel at a conference in 2017. It was clear that Genomenon’s mission was aligned with that of KGI, with a focus on innovation and entrepreneurship.
In 2018, Kiel gave a talk at KGI on forming a successful biomedical startup. Also, at that time, students in the MSGDA program were granted free professional licenses to Genomenon’s Mastermind Pro software.
“It’s a fantastic opportunity for our students, as this is a professional-level package that people would usually first encounter at their jobs,” Fortini said.
“Having the ability to start learning these tools in advance prepares students to be ready on their first day of work as a variant scientist, and having proficiency in this software impresses future employers.”
As another benefit that has emerged from this partnership, Genomenon gave KGI 50 decks of playing cards to use in the classroom to teach variant interpretation, mirroring the software’s automated workflow.
“These have been extremely helpful for me in guiding students through this process, making it more tactile,” Fortini said.
Fortini believes that part of what makes this synergy with Genomenon so effective is that Kiel brings his business perspective and her educator perspective to the table.
“My goal is to educate students on the necessary skills to thrive in the genomics industry,” Fortini said. “He wants to equip future employees with the tools to perform these roles effectively. I’m helping both organizations to move forward and stay at the cutting edge because I always learn something new when I talk to Mark about where the field is headed.”
Several MSGDA students have completed internships and capstone projects with Genomenon over the last several years.
“Some students have taken on curating all the known variants in clinically relevant genes, cataloging how efficiently Mastermind is selecting relevant data from the literature and adding their own clinical judgment and hands-on interpretation,” Fortini said. “Other students work on different types of variation that are harder to capture in literature—like copy number variants—to benchmark how well the product captures known variants compared to other databases.”
Not only have MSGDA students collaborated with Genomenon for internships and capstone projects, but five program graduates have gone on to work for the company as full-time employees.
“This gives Genomenon a leg up, as our program is still small, and the alums are pretty hot commodities on the job market,” Fortini said. “And these employees are already familiar with the company’s products and their job positions.”
Betty Mathias, MSGDA ’21, is one such alumna who now works as a Project Manager for Genomenon.
“The MSGDA program at KGI provided me with hands-on, real-world experience in genomic analysis and informatics, supplemented with an understanding of the genetic industry and pharma,” Mathias said. “These skills enabled me to acquire a job at Genomenon, where I curate datasets used in the clinic and industry for diagnosis, natural history studies, and support for drug approvals. Genomenon has encouraged and nurtured my professional growth, leading me to a project manager position after being hired as a variant curator a year and a half ago. The warm and interactive relationship between Genomenon and KGI has allowed me to give back to my KGI program as alumni through mentoring interns, participating in career fairs, and guest lecturing to MSGDA.”