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Genetic Testing Challenges in Precision Medicine: Parents’ Tragedy After Wrong Tay-Sachs Test Order

Genetic Testing Challenges in Precision Medicine: Parents’ Tragedy After Wrong Tay-Sachs Test Order

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...
Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History

Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History

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...
Full Family History Helps ID Lynch Syndrome Founder Variant

Full Family History Helps ID Lynch Syndrome Founder Variant

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...
Genetic Testing Challenges in Oncology: VHL Variant in Atypical Patient Raises Management Questions

Genetic Testing Challenges in Oncology: VHL Variant in Atypical Patient Raises Management Questions

by Danielle Bonadies | Nov 21, 2023 | Genetic Testing Challenges in Oncology, News

 During a routine gynecogical appointment, a young woman reported that her paternal grandmother, was diagnosed with early-onset breast cancer and still living.  Based on this family history, the gynecologist ordered a genetic testing that included multiple genes to...
Genetic Testing Challenges in Oncology: Broad Panel Assessment Reveals Unexpected RET Finding

Genetic Testing Challenges in Oncology: Broad Panel Assessment Reveals Unexpected RET Finding

by Danielle Bonadies | Sep 6, 2023 | Genetic Testing Challenges in Oncology, News

A 51-year-old female pursued genetic testing because she thought her mother was diagnosed with ovarian cancer at age 30. After the testing was ordered by the patient’s gynecologist, the patient realized her mother actually had cervical cancer, not ovarian. The test...
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