The Stanford Center for Inherited Cardiovascular Disease is one of only a small number of centers worldwide that focus on diagnosing and treating genetic heart disorders. The center also offers genetic counseling to enable patients and their families to better understand and cope with such disorders.
In an article posted today, I tell the story of Lauren Sassoubre, a 30-year-old Stanford PhD candidate who was diagnosed with arrhythmogenic right ventricular cardiomyopathy. The often deadly condition is inherited, meaning that other members of Sassoubre’s family were potentially at risk. For example, her older sister had recently discovered she was pregnant, so if she carried the disease-enabling DNA mutation it could be passed on to her baby.
Both sisters got help from the Center for Inherited Cardiovascular Disease, meeting with its genetic counselor, Colleen Caleshu. “What we do as genetic counselors is help patients understand and adapt to the hereditary conditions in their family,” Caleshu told me. “We help them navigate choices about family planning and even about whether or not they want to know predictive information about their health.”
She also is an expert in the science of inherited heart disease. As I write in my release:
Caleshu is trained to interpret the often subtle but significant implications of abnormal genetic markers. There are many unique gene variations and mutations among humans, so DNA test results require a close reading to avoid false positives or negatives, she said. After she gets results back from a lab, she analyzes them in light of her own expertise in cardiac genetics and also consults various peer-reviewed studies of the disease and of the possible gene mutations involved. “Genetic test results are probabilistic, never black and white,” she added. “Reading them often feels more like art than science.”
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