Cancer diagnosis and treatment have traditionally relied on tissue biopsies—procedures where a piece of tumor is surgically removed and examined. While these methods remain essential, they can be invasive, painful, and sometimes impractical when tumors are hard to reach or when repeated sampling is needed. Over the past decade, a…
Newborn screening is one of the most successful preventive health interventions, enabling early identification of select inherited disorders and timely treatment. However, traditional newborn screening relies on biochemical markers that reflect downstream effects of disease. These markers often become abnormal only after the disease process has begun, meaning some degree…
Genomic testing in clinical practice often involves a compromise between breadth and depth. Whole genome sequencing (WGS) offers the most comprehensive view of genetic variation but remains expensive and data-intensive for routine use. Whole exome sequencing (WES), on the other hand, provides deep coverage of coding regions where many disease-causing…
Researchers have identified a rare genetic variation that seems to reduce how much people smoke,…
A new study looked at what people actually do after getting important health results from…
For many children with rare neurological conditions, the path to a diagnosis can take years.…
