SEATTLE — Molecular testing has been widely integrated into mainstream healthcare, and its use is increasing in dermatology. It can help differentiate between skin conditions, for example, as some ...

Genetic testing is helping rare disease patients get answers earlier, sometimes before symptoms appear, opening the door to treatment before irreversible damage occurs. For families, a genetic ...

MINNEAPOLIS — By definition, a variant of unknown significance identified in an individual with cardiomyopathy can leave physicians wondering what to do with the information. Don’t discard so-called ...

Researchers at Texas Children's Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the ...

Current National Comprehensive Cancer Network (NCCN) guidelines for germline testing are complex and often miss patients with cancer susceptibility. We evaluated results of universal germline genetic ...

Rare diseases (RD) are more common than you might think. For every 20 people you know, one is likely affected by a rare disease. Of the 7,000 known RD conditions, 80% have a genetic origin, yet over ...

For Josh Henderson, 66, of Olympia, getting genetic testing was a no-brainer. “The first time I came to Fred Hutch, my oncologist suggested it,” said the retired IT manager who received a metastatic ...

Getting a Prader-Willi syndrome (PWS) diagnosis often starts with recognizing certain symptoms that may suggest the condition. From there, genetic testing can confirm a diagnosis and provide ...

Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing confirms it. Signs vary from low muscle tone and feeding problems in babies to hunger that can't be satisfied and ...