Medical genetics is a relatively new subspecialty that focuses on the diagnosis, management and treatment for people with genetic disorders, all of which are rare. For physicians who work in medical genetics, everything they see, by definition, is a rare disease.

Susan Berry, MD, a physician who specializes in pediatric genetics and metabolism and a professor in the Department of Pediatrics at the University of Minnesota Medical School, details how telemedicine initiatives are changing care for those with rare diseases.

“For anyone in medicine, there should be an ongoing learning process. In our field, that’s what makes it fun. There’s so much new discovery, every day and in every way. If someone comes to see us and we don’t know what’s wrong with them, we have brand new, fantastic tools that we can deploy to help them get to a diagnosis. We don’t diagnose everybody and there’s still tons to know and learn, but this is a particularly quick moving medical endeavor and we’re doing things that we weren’t even ten years ago,” Dr. Berry said. 

As with all areas of medicine, the COVID-19 pandemic upended how patients normally received treatment for rare disease. A regional Health Resources and Services Administration (HRSA) project was already taking steps to implement more telegenetics services, but the regulatory parameters were limiting and the initiative hadn’t yet fully developed.

“What was sort of a niche project for geneticists all of a sudden became absolutely essential for all phases of medicine. There were people doing telemedicine before COVID–dermatologists had been very aggressive in developing telemedicine techniques, for example–but it became common for us overnight,” Dr. Berry said. 

With a sudden need to adapt, all of the previous stipulations went away to accommodate for the influx of virtual visits. Parameters were loosened and the framework of what could be done was changed. 

“It was a little bit of the wild, wild west at the beginning of the pandemic. They said however you need to do it, that’s how you do it. Just don’t make it a public site. Do something where it’s connected independently. Rapidly, most health systems began to use commercially available modules that were integrated into the electronic medical records system,” Dr. Berry said.

Rare disease often puts patients on a “diagnostic odyssey” as they search for answers, a diagnosis and potential treatment for their condition. The journey can be complicated and in many instances, they don’t get immediate answers. Thankfully, telemedicine has allowed physicians to continue conducting exams, and while it isn’t always perfect, it can work well for this particular realm of medicine.

The key to our work is that you need a good physical exam. Using genomic techniques and ideas really depends on how well you define what you see. You need a good exam and a comprehensive medical history to be able to use these technologies in meaningful ways. Phone visits are not perfect but it does enable you to have communication with a patient or family that you otherwise wouldn’t have. Our preferred connection is video visits. You can do most of what you need to do in a video visit, but not all.

Dr. Berry

Rare disease is often about discovery. Sometimes, providers initially have no idea what a condition is, requiring them to use different tools to find the condition’s root cause. They gather information through exams and prior data to try and piece together a complete picture.

“Our job is not to synthesize a specific organ system, but to kind of see the bigger picture. We’re sort of the generalists in mystery. In an odd way, we have to be overarching in our observations and by the time families come to us, they may be long into their diagnostic odyssey or they might be new to an idea, so what we try to do is help them realize that having a diagnosis gives them power over what’s going on even if we can’t fix or change what’s wrong. It allows us to be able to do medical interventions or to treat problems that go with their condition,” Dr. Berry said.

Once a patient is diagnosed, connecting them and their families to others with similar conditions becomes crucial since it provides much-needed support for people experiencing a difficult, yet often completely unique, medical condition. Technology allows patients to connect and receive care, but it can also save time and negate risk associated with in-person visits.

“For convenience and for other reasons, I hope it does not go away because it’s better for families. For a kid that’s on a ventilator and requires a special van to transport them, you can do most of what you need to without that family making a journey with a medically-fragile child,” Dr. Berry said. 

To learn more about rare disease and telemedicine, watch Dr. Berry’s virtual presentation "Successes and Shortcomings of Telehealth for Rare Diseases from the Clinician Point of View" as part of the University of Minnesota College of Pharmacy's Rare Disease Day on February 26, 2021. Download Whova to attend the event: