A woman in her 40s had surgery to remove a gynecologic tumor. During the procedure, the surgeon noted that she had numerous polyps in her small intestine that may be causing it to undergo intussusception, meaning one section of bowel slides into the next. The surgeon...
This is part of a series of articles written to highlight rare hereditary cancer syndromes. In this interview, Heather shares her story of living with Cowden syndrome. Genetic Counseling Note: People who have a mutation (also known as a pathogenic variant) in the PTEN...
Thanksgiving is coming up, and there is a good chance that you will have the rare opportunity to visit with extended family for a few hours. Whether you are gathering around the dinner table or Zoom this year, now is a great time to have a conversation with your loved...
In a recent video, we outlined the pros and cons of whole exome sequencing in children and newborns, currently a controversial topic in the field of genetics. After all, there is still a lot that scientists and healthcare providers don’t know...
This week JAMA published a viewpoint on whether life insurers should have access to genetic test results and, understandably, it unearthed some long-standing fears about genetic discrimination. We do have protection from some forms of such discrimination under the...
