Romanian patients can have access through CNAS to genetic tests that contribute to the personalization of oncological treatments. Photo: Shutterstock
At 45, Maria arrived in the cabinet of the geneticist with type 1 neurofibromatosis, a disease that predisposes to brain tumors. He had speech difficulties, was confused, and portions of the body were covered by brown stains, specific to this incurable genetic condition of the nervous system.
The MRI was also worrying, because he had locked some formations on the brain that were suspicious. Usually benign, neurofibromas of the type identified in Maria had a high risk of malignancy and is very likely to have appeared since childhood, explains for panorama dr. Anca Bârdan, genetic specialist in the Center for Personal Genetics, part of the MedLife group.
Genetic testing not only helped the patient to have a clear diagnosis but guided doctors to personalized therapeutic managementonce the lab has confirmed a pathogenic mutation in the responsible gene, n
umita nf1. Moreover, the test of the first degree relatives discovered the same mutation at the sister and the patient's mother, says Dr. Anca Bârdan.
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Article supported by MedLife
