This year, we’ve chosen to highlight various members of the Recombine team with occasional blog posts as part of our new Employee Interview Series! We hope to provide you a behind-the-scenes glimpse into life at our company and the many roles involved in promoting healthy families. This week we spoke with Casey Marks, our Bioinformatics Research Assistant and a member of our Product Team, who has been working at Recombine since June 2014.
Hey Casey, introduce yourself to the world.
I studied Biology and Genetics at Drexel University in Philadelphia, and my interest in genetic counseling is what initially drew me to Recombine. It was very much a “right place at the right time” kind of situation. My enthusiasm for genetics stemmed from my love of learning and constant need to know more. In genetics, there will always be something new to explore and unique methods of discovery in development. In everyday life, I enjoy coffee, sarcasm, intelligent people, and bright lights. I have a lop eared rabbit named Rabbit Downey Jr. He is the best.
Tell us about your role at Recombine.
As a Bioinformatics Research Assistant, I am heavily involved with the development of the CarrierMap product. With the field changing constantly, it is important to continuously research new diseases and mutations that could potentially affect future families. Reading the scientific literature published on such topics allows me to assess which new high-impact diseases we should consider including on CarrierMap and whether there are new pathogenic mutations worth adding for current diseases. Since CarrierMap is relevant for all ethnicities, we aim to cover diseases that are prevalent worldwide and also specific to certain areas. Reassessing the test is also a very important part of my job to ensure it is as accurate and impactful as possible.
What aspect of your role do you enjoy the most?
I like that I get to work on the test in its earliest stages and watch it develop into a product that impacts the lives of others and helps families make important decisions. Seeing that makes all the hard work worth it.
What do you like most about Recombine?
I love the collaborative environment. Because most of my tasks day-to-day can be very solitary, I especially appreciate that I have the chance to work with people on other teams and gain an understanding of parts of the company I never thought I would. I know it sounds cliché, but I really do learn something new every day.
What have you gained from working here?
Before working at Recombine, I didn’t have an appreciation for just how much hard work went into the genetic testing process. There are so many pieces to the puzzle; everything from designing the test, to quality control, to patient support. Learning about each step of the operation has allowed me to better understand the field of genetics and all it can offer.
What has been your favorite project at Recombine?
Last year I was able to involve myself with the research at Recombine and present a poster at the NSGC (National Society of Genetic Counselors) conference. I looked into guidelines for pan-ethnic carrier screening of cystic fibrosis, a very serious disease which as many as 1 in 24 people are carriers for. Taking a small idea and finding meaning in the data was very fulfilling. It really is the most exciting part of working here. In this crazy, ever-evolving field, there are new and interesting findings being discovered daily.
What does a typical day look like for you?
I read a lot. And then I count some stuff. That’s how I describe my job to my family members, at least.
In reality, most of my days are spent taking information found in scientific articles and converting it to data used to calculate detection rates. These numbers allow us to determine how effective our test is at detecting carriers of various genetic conditions in specific populations. On any given day I might also be looking for new diseases, new mutations, or ways to improve upon existing content.
If Hollywood made a movie about your life, who would you like to see cast as you?
I’ve actually contemplated this question a lot lately. Mostly because I can’t fathom that a movie about my life would attract any kind of audience in the biopic or documentary sense. What I would love is to have an animated movie loosely based on my life. I’m a sucker for kids movies with life lessons and sneaky adult humor. The story would follow a stubborn (and very clumsy) young girl who never takes “no” for an answer and strives to reach her dream of working in science and medicine. And obviously I want to do the voiceover work for the main character. It seems like so much fun.
Do you have a motto or personal mantra?
“Coffee, coffee, coffee.”