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Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld
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...
Precision Oncology in 2022: New Drugs and Tests Amid Ongoing Access Barriers
In 2022, many new therapies and tests for cancer were approved, but a significant number of patients are still not receiving appropriate therapies. Suboptimal testing paradigms, reimbursement issues and physicians' inability to keep up with rapidly advancing science...
Myriad Genetics (MYGN) To Share Guarded BRCA Variant Information In Public Database
Myriad Genetics is set to share information about guarded BRCA variants in a public database, marking a significant shift in the company's approach to sharing genetic information. Previously, the company had been criticized for guarding such information and limiting...
The Latest Thinking on Genetic Testing
Ellen Matloff sits down with Everyday Health to discuss the past, present, and future of genetic testing. With advances in technology and research, genetic testing is becoming increasingly accessible and informative. However, there are still many misconceptions and...
Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis
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...
Your Baby’s Newborn Screening Blood Sample Could Be Used To Convict You Of A Crime. It Just Happened In New Jersey.
Newborn screening is a program in the US that tests newborn babies for various conditions that could affect their long-term health or survival. This testing has been lifesaving for many babies and families. However, there are concerns that states may keep the newborn...
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results
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 the loss...
Population Genetic Testing: Save Lives And Money, While Avoiding Financial Toxicity
Genetic testing is no longer offered only to people with rare genetic conditions but also to healthy people to detect if they carry a genetic mutation that may place them at high risk of developing preventable conditions. In theory, population genetic testing makes...
The Amount of Misinformation Online Can Lead to ‘Horribly Detrimental’ Results in Patients With Cancer, Says Expert
The abundance of information available online about cancer can be overwhelming for patients seeking quick, accurate, and reliable news and updates. An "infodemic" was declared by the World Health Organization and United Nations due to the proliferation of misleading...