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Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld

Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld

by Danielle Bonadies | Jan 23, 2023 | Genetic Testing Challenges in Oncology, News

A patient diagnosed with metastatic, poorly differentiated, stage IIIB invasive ductal, triple-negative breast cancer was not given pre- or post-test genetic counseling before undergoing genetic testing. After seeing another surgeon for bilateral mastectomy, the...
Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis

Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis

by Danielle Bonadies | Oct 12, 2022 | Genetic Testing Challenges in Oncology, News

A woman with a history of breast cancer and a family history of pancreatic cancer was diagnosed with Cushing’s disease. She was referred to a genetic counselor who found that the patient had a TP53 variant associated with Li-Fraumeni syndrome (LFS) that had been...
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results

Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results

by Danielle Bonadies | Aug 29, 2022 | Genetic Testing Challenges in Oncology, News

A dermatologist’s misdiagnosis of a patient with Lynch syndrome, a type of inherited cancer predisposition syndrome, led to unnecessary colonoscopies and healthcare expenses. The patient had multiple skin tumors, one of which was genetically tested, revealing...
Doc Tells Patient with Familial Risks to Get DTC Testing

Doc Tells Patient with Familial Risks to Get DTC Testing

by Caitlin Kingsley | Mar 29, 2022 | Genetic Testing Challenges in Oncology, News

A woman experiencing joint and mobility issues turned to holistic medicine after feeling that her regular doctors weren’t adequately addressing her health problems. In recounting her health history to a new doctor, she also shared that she was concerned about...
Muddled Reporting, Interpretation of PALB2 VUS

Muddled Reporting, Interpretation of PALB2 VUS

by Caitlin Kingsley | Feb 23, 2022 | Genetic Testing Challenges in Oncology, News

A woman’s physician ordered multi-gene panel testing due to her family history of cancer and told her that the lab had found two “errors” in the PALB2 gene. Compared to the general population, patients with a pathogenic variant in PALB2 have between...
Myotonic Dystrophy Signs Missed in Uterine Cancer Patient

Myotonic Dystrophy Signs Missed in Uterine Cancer Patient

by Caitlin Kingsley | Jan 27, 2022 | Genetic Testing Challenges in Oncology, News

An oncologist referred an endometrial cancer patient to a genetic counselor because she was diagnosed at a young age – before age 50. The patient had already undergone surgical treatment before the oncologist referred her to a genetic counselor. After taking a...
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Recent Posts

  • Genetic Testing Challenges in Oncology: Karyotype, Germline Clues in Somatic Diagnosis Lost in Translation
  • Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld
  • Precision Oncology in 2022: New Drugs and Tests Amid Ongoing Access Barriers
  • NSGC 2022 Poster Presentation
  • The Genetics of Pancreatic Cancer

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