Rare Disease Q&A Part 2

Maysen Mesaros, MS, a certified genetic counselor at the Medical University of South Carolina (MUSC), will be one of the speakers at the Rare Disease Symposium to be held February 29 at Segra Park in downtown Columbia from 9:30 am-2:00 pm (with a virtual option available as well).  As a genetic counselor in the neurological clinic at MUSC, Mesaros helps patients to understand the implications of inherited disease. She determines whether genetic tests are warranted and discusses the implications of the results with patients before passing them back to the referring neurologist for medical management.

What is genetic screening and counseling? Why is counseling important for those undergoing genetic screening?

A: Genetic testing is looking at people’s DNA or a portion of their DNA for harmful changes that could explain their symptoms. There are a couple of different categories of genetic testing. Diagnostic genetic testing is when a patient has some constellation of symptoms, and we're trying to figure out why that is. Genetic testing, which can identify the harmful change in their DNA, called a mutation, could explain what they have. When a disease runs in a family, predictive testing can tell family members whether they have inherited the mutation and can expect to develop symptoms at some point in their life.

Genetic counseling involves meeting with patients and gathering information about their medical and family history, as well as providing risk assessment information about any condition for which they could be at risk and counseling them about what to expect if they do proceed with testing.

What is the importance of genetics screening and counseling for the rare disease community?

A: I'd say the most important part of genetic screening for the rare disease community is the diagnostic piece. This gives patients answers. Genetic counseling for rare diseases can be an avenue for patients to get answers for their unexplained disease. It provides information that can help with their medical management, treatment, and family and life planning.

Often, general practitioners are not familiar with rare conditions. So, being able to meet with a genetic counselor who only deals with rare diseases can be very helpful for these patients.

A genetic counselor can really be an advocate for these patients by helping them find appropriate clinical trials or support groups.

What will you be talking about at the Rare Disease Symposium?

A: My talk will be on mostly diagnostic testing. We'll be talking about a couple of different specialties and how genetic testing and counseling play into those. So, I plan to give a couple of case examples of how genetic testing and counseling have helped patients.

The Rare Disease Symposium is free and open to the public. Those interested in attending (either virtually or in-person) can register by visiting RarediseaseSC.org. A link to a rare disease needs assessment survey can also be found on the website.