Back in 2008, I built a genetics framework for the Mayo Clinic designed to support auto-diagnosis of DNA tests. To get the job, I was asked to review an RFP-like description of what the Molecular Genetics Lab was requesting. At the time, the technical architecture mentioned in the document was severely outdated. In my response, I called this out and proposed a new technical architecture using the latest technical architecture at the time. I built a .NET (C#) object-oriented and event-driven framework and deployed the first service-oriented architecture at the clinic.
When I started the project, I had little prior formal training in Biology, having only taken a single biology class (botany) in college. Over the first four days, I worked directly with a long-time lab employee and learned everything that I needed to know to build the solution. Unlike other subjects, I found the topic incredibly interesting. In 2008, there were very few research hospitals working with genetics and very few technologies to manipulate genetic sequences. Today, it seems like there are hundreds of software products and tools to assist researchers with their work.
The purpose of the aut0-diagnosis system was explained to me this way:
"It is easier for us to invest in an auto-diagnosis system than it is for us to train a new research physician which can take as long as 30 years," stated the lead research physician.
My goal for the project was to create a flexible technical architecture that could expand as new research and/or techniques became available. From a functional perspective, I applied the 80/20 rule, meaning that I wanted to auto-diagnose 80% of the DNA tests by comparing the genetic variants to the known research. For the remaining 20% of the tests, the research physicians could determine the next action.
"Your name should be mentioned in every research paper that the Mayo Clinic's Molecular Genetics Lab produces because we use the tool you built to conduct the research" -- a Mayo Clinic Molecular Genetics Laboratory Employee
That experience ignited a passion for bioinformatics that has never left me. I continue to explore new technologies and evaluate how we may be able to improve auto-diagnosis and to improve our understanding of molecular genetics. In q1 2018, we expect to have a new product on the market that will make it incredibly easy for research physicians, genetic counselors, and patients to understand their genetic conditions. Again, the solution is using the latest technology available.
Jenna M Bourgeois, CEO Dynamics Intelligence, is the author and owner of the the molecular genetics software framework that was deployed by the Mayo Clinic's Molecular Genetics Lab in 2009. With over 20 years of industry experience and over 30 technical Microsoft certifications, she is passionate about helping the world interpret molecular genetics data.