Q & A with Matthew Thomas, ScM, CGC

August 29, 2014 by

The department of Pediatrics congratulates Matthew Thomason the successful launch of his UVA Cardiovascular Genetics Program. The program will play a crucial role in the improved treatment of hereditary heart conditions. Here, Thomas shares his thoughts on the program.

Q: What was the need for starting this program?
There was an unmet need for patients at UVA with inherited heart conditions. Although patients with these conditions have been receiving exceptional care by their cardiologists and surgeons at UVA for decades, there was no systematic effort to screen their family members who often have as much as a 50% risk of having the exact same life-threatening, but treatable conditions. Furthermore, there have been great advances in the field of cardiovascular genetic testing and we have the ability to identify the specific gene that causes a patient to have certain heart conditions. That cardiovascular genetic test result can occasionally improve a patient’s care and is almost always valuable to his or her family members.

Q: Tell me about the timeframe of this program:
With the help and support of my colleagues in Pediatric Genetics, Pediatric Cardiology, and adult Cardiology, I started piloting the program in January 2013. I applied for Buchanan funding in June, was accepted for the 3 month business development phase. I presented my proposal to the committee in December and was formally notified that the program was approved in February. The official position began on July 1, 2014. It was essentially 18 months from the moment I saw the first patient in my pilot program (Jan 2013) to the first day I saw a patient in the formal program (July 1, 2014).

Q: What does this mean for you in the future? What does this mean for UVA?
For the next 3 years I’ll be committed to seeing patients with inherited heart conditions with two particular goals: 1) coordinate genetic testing to discover the gene responsible for a patient’s inherited heart disease and 2) identify family members who are at risk to develop the same heart disease and help those family members get medical screening.

I hope UVA Children’s Hospital will be the place where children with inherited heart conditions and their families receive their care. With the help of Drs. George McDaniel and Thomas L’Ecuyer, we’ve already started a Pediatric Arrhythmia and Pediatric Cardiomyopathy clinic and received referrals from cardiology colleagues across the state.

Q: What was the most memorable moment of your work so far?
I received a call out of the blue last year from a mother who tragically lost two of her children to sudden cardiac arrest. She had one surviving son and wanted to make sure that she was doing whatever she could to protect him from the same fate. With the help of a state medical examiner, the perseverance of the mother, and cardiovascular genetic testing lab, we were able to identify the condition (arrhythmogenic right ventricular dysplasia or ARVD) and the specific gene mutation that caused her children’s death. A few months later, her son underwent genetic testing and fortunately tested negative for the gene mutation; therefore, he is not at risk for same disease that took the life of his siblings.

Q: What was your favorite part of being involved in this program?
Cardiovascular genetic testing has the unique ability not only to predict who may develop certain heart conditions in the future, but also provide unequivocally good news — we can occasionally reassure patients that they are not at risk to develop the disease running in their family (like the example above). Sharing these type of normal test results to parents, alleviating the worry they’ve had about their child being affected by a life-threatening condition, is one of the most rewarding aspects of my job.

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