Genetisk rådgiver diskuterer betydningen af genetisk testning i "Narrative Matters" podcast
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Genetic counselor Shivani Nazareth discussed in a recent episode of the Narrative Matters podcast why she advocated for her mother to receive genetisk testning, which led to her FTD diagnosis.
Nazareth, a product manager at the diagnostic DNA testing company Invitae, read her essay “To Uncover My Mother’s Genetic Disorder, I Had to Lead the Way,” on the Dec. 17 episode of Narrative Matters.
She discussed her mother’s lifelong oscillating mood shifts and how her maternal grandfather lived with similar mood and behavioral changes. Nazareth also shared how she had to convince her mother’s neurologist to administer genetic testing to find answers of the underlying cause of her mother’s worrisome symptoms.
“Taking into account my grandfather’s history, I started to suspect an inherited neurodegenerative disease,” Nazareth said during the episode. “I need to understand what my mother has, what my father should expect, and what I may need to contend with in the future.”
Nazareth opened up about the pushback she received from her mother’s neurologist when she recommended genetic testing. Her persistence and genetic counseling expertise influenced the specialist to order the testing that ultimately determined that her mother was a carrier of the C90rf72 gene, a gene mutation most commonly associated with hereditary forms of FTD.
“Despite a lack of treatment options for FTD, having a diagnosis offers solace. It has enabled me to forgive my mother and myself. When I think about my grandfather, I’m overcome with a sense of grief that he did not have the privilege of a diagnosis,” said Nazareth.
The genetic counselor said that she wishes “that [healthcare] providers were a little more curious about the potential use of genetic testing,” and pointed to advantages of genetic testing.
“The benefits of genomics [are] capturing high-risk patients early, being able to diagnosis them earlier, and potentially even [preventing] symptoms. That’s worth so much.”
Listen to the “Narrative Matters” podcast episode featuring Shivani Nazareth her.
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