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...
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...
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...
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...
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...
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...