You may know Sara Pirzadeh-Miller in her role as the Director of the Cancer Genetics Program at UT Southwestern (UTSW), or as the President Elect of NSGC … but do you know her as a trail blazer and champion in genetic counseling reimbursement?? I interviewed Sara...
A 29 year-old Ashkenazi Jewish woman completed pre-pregnancy carrier screening and was found to be a carrier for Tay-Sachs and Spinal Muscular Atrophy (SMA). In order to determine if her husband was a carrier for Tay-Sachs, his doctor ordered testing to check his...
A primary care doctor referred a 39-year-old Ashkenazi Jewish woman for genetic counseling because of a known familial BRCA2 variant. The patient was also undergoing egg retrieval for in vitro fertilization and had told her doctor she would consider pre-implantation...
BRCA-Related Breast and/or Ovarian Cancer syndrome is a hereditary cancer syndrome caused by pathogenic variants in the BRCA1 and BRCA2 genes. It results in increased risk for breast, ovarian, prostate, and pancreatic cancers and possibly melanoma. Experts believe...
A 35-year-old man sought out genetic counseling because his mother had a pathogenic variant in MSH6. The patient’s family history also revealed a paternal relative with pancreatic cancer which, in addition to his Ashkenazi Jewish ancestry, prompted the GC to...
