New structural variation sequencing reads long stretches of fetal DNA to pinpoint duplications, flips, and rearrangements, revealing which changes truly matter.

Genetic testing for ATTR can detect transthyretin mutations and offer crucial information about risk, monitoring, and treatment, if needed. Transthyretin amyloidosis (ATTR) is a genetic condition that ...

A new study by Mayo Clinic Comprehensive Cancer Center researchers found that the presence of a specific genetic mutation—KRAS circulating tumor DNA (ctDNA)—strongly indicates a higher risk of cancer ...

OSAKA -- A woman from Osaka Prefecture with hereditary breast and ovarian cancer syndrome (HBOC) plans to apply for approval ...

Integrating new AI screening tools for BRCA and HRD breast-cancer mutations into routine care could lead to earlier detection, more precise treatment, and lives saved. If they are aware of the threat, ...

Insurance covers some genetic tests, such as BRCA tests for breast cancer, if you meet certain requirements. But there are about 70,000 different genetic tests available, and insurance coverage ...

When it came time to start a family, Sarah Elizabeth Orlando, 33, knew she would go about it differently. Before she was born, an in-utero amniocentesis had confirmed she carried the gene for fragile ...

Smoking remains the leading cause of lung cancer. But a growing number of people who have never smoked are now being ...

Two years ago, at my father’s funeral, I gave a eulogy highlighting a genetic trait that runs through our family: we are ...

Analysis of one million diverse genomes yields mutations associated with lower risk of diabetes, heart disease and other ...

The BRCA1 and BRCA2 variants are associated with certain cancers.

For Jackie Tohn, the last few years have been a rollercoaster. The “Nobody Wants This” star has been on a career high. But she’s also been going through a challenging personal health journey behind ...