A: GeneDx was started in 2000 by two NIH scientists with the mission of making genetic testing accessible for patients with rare diseases. We continue to focus on this mission almost 20 years later, but also continue to grow and evolve with changes in technologies, medical knowledge, clinical practices, and research approaches. We now offer genetic testing for just about every indication related to clinical germline/constitutional indications, from single variant testing to whole genome sequencing, and everything in between.

A: As mentioned, we have a very comprehensive genetic testing menu both in terms of assays and technologies but also across clinical (as well as research) indications. We pride ourselves on our deep clinical and molecular expertise in everything we do. We have over 150 MDs or PhDs and over 120 genetic counselors, and our team is incredibly passionate about providing the most accurate and best possible testing for all the clinicians, researchers, patients, and families we have the honor to serve. We really care about what genetic changes mean for patients and the providers they see, and make sure we go the extra mile in explaining the evidence and data behind the result, as we know the field of genetics is complex and ever-changing. Along these lines, we believe in marrying the latest cutting-edge methodological approaches – including artificial intelligence and advanced bioinformatic algorithms – with careful human oversight, as well feel that an optimal approach requires these checks and balances and a lot of TLC!

A: I’m the head of GeneDx, so I work with every and all aspect of our company. I really love being able to find answers and results that are especially tricky and difficult, and which may be overlooked by other methods. We are constantly iteratively improving our methods, adding new tests and options, and otherwise refining what we do, and it’s great to be part of a field where constant change is a requirement. We think hard about known disease loci as well as novel or candidate disease genes. It’s great to be part of a field where we can identify “knowns” as well as contribute new knowledge to the field.

I’m also a physician clinical geneticist (I still see patients as a small percent of my time), and my heart really goes back to interactions with patients and families. I see very directly how much that matters, including when no testing is done or a test doesn’t provide answers. In other words, no matter how technologically-advanced we get, there’s tremendous power in the human touch. I like to think of GeneDx as helping support these interactions on a large-scale basis and in some of the most clinically challenging and frankly difficult situations in medicine.

A: There are constant breakthroughs in this field, including on the “wet lab” and “dry lab” side. I’m particularly excited about new bioinformatic and related methods that help us detect and understand genetic changes that were previously not able to be interrogated or interpreted. We constantly have situations where we’re able to find answers for patients who were previously tested over months and years through a more piece-meal approach using smaller or less advanced assays.

A: It’s very important for all of us in the industry to make sure that insurance companies and related groups understand the clinical impact, guidelines, and financial effects of genetic testing, and we need to keep having those conversations. It’s also critical to make sure there aren’t logistic barriers erected against clinically-indicated testing. I worry that clinicians are so buried in paperwork that they are taken away from their primary goal and passion, which is taking the best possible care of patients. In addition to making life miserable for clinicians, barriers to clinically-indicated and evidence-based testing can have serious effects on the health of patients.

A: It’s a wonderful time to be in this ever-changing field.