by Danielle Bonadies | Sep 15, 2024 | Genetic Journal
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...
by Danielle Bonadies | Aug 16, 2024 | Genetic Testing Challenges in Oncology, News
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...
by Danielle Bonadies | Apr 8, 2024 | Genetic Testing Challenges in Oncology, News
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...
by Danielle Bonadies | Mar 22, 2024 | Genetic Journal
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...
by Danielle Bonadies | Feb 16, 2024 | Genetic Testing Challenges in Oncology, News
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...
