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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...
Doc Tells Patient with Familial Risks to Get DTC Testing
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 her...
The Medical Side Effect We Must Stop Ignoring: Financial Toxicity
A few months ago, two sisters published an essay in The New York Times about their genetic testing journey, which started because their mother was found to have a mutation in one of the BRCA genes. People who have a mutation in one of the BRCA genes are at increased...
Muddled Reporting, Interpretation of PALB2 VUS
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 a 20 percent and...
Meet the Expert Geneticist Who Fought Against Patenting Your BRCA Gene
Ellen Matloff, MS, CGC is a certified genetic counselor and the President and CEO of My Gene Counsel, a digital health company that provides scalable, updating genetic counseling solutions. Matloff founded the Yale Cancer Genetic Counseling program, served as its...