multi-gene assays
Genetic Testing Challenges in Precision Medicine: Li-Fraumeni Diagnosis Missed in Young Patient
A 31-year-old woman with stage IV breast cancer learns a test ordered more than a year before her diagnosis detected a TP53 mutation but she wasn't told.
Genetic Testing Challenges in Oncology: Full Family History Helps ID Lynch Syndrome Founder Variant
In a family with a known cancer variant, genetics experts are proficient in determining whether single-site testing or panel testing is more appropriate.
Genetic Testing Challenges in Oncology: Broad Panel Assessment Reveals Unexpected RET Finding
A gynecologist tested an unaffected patient for aberrations in many cancer risk genes and found a low-penetrance pathogenic RET variant despite the absence of medullary thyroid cancer in her family.
Epilepsy Management Often Shifts After Multigene Panel Testing, Study Finds
Researchers tracked treatment and outcome changes in a retrospective analysis of epilepsy patients with pathogenic or likely pathogenic variants found by multigene panel testing.
The availability of multi-gene tests was most inconsistent across 53 European countries, and reimbursement was seen as the greatest barrier.