Genetic Testing
Recommendations for genetic testing to prevent sudden cardiac death in athletes
Cardiologists should work with experienced centers performing genetic testing to identify and manage inherited cardiac conditions in young athletes and inform patients of risks and benefits, according to a new joint scientific statement.
Pathogenic germline variants identified in adults with acute myeloid leukemia
Approximately 14% of adults with acute myeloid leukemia harbored germline pathogenic or likely pathogenic variants in a hematologic malignancy predisposition gene, according to study results published in Blood.
VIDEO: Genetic testing identifies patients at increased risk for cancers, pancreatitis
SAN DIEGO — In a Healio video exclusive, study authors Howard P. Monsour, MD, and Carrie Milliard, discuss how genetic risk assessment and testing may help inform patient care and improve health outcomes.
Polygenic component associated with HCM risk, offering prediction tool
Rare and common genetic variants contribute substantially to susceptibility to hypertrophic cardiomyopathy in the general population and can help improve risk prediction beyond clinical factors, researchers reported.
VIDEO: Genetic testing for hereditary GI cancers goes beyond individual patient care
In this Healio video exclusive, Mark A. Molos, MD, of WestGlen Gastrointestinal Consultants in Shawnee, Kansas, discusses his experience with the GI OnDEMAND genetic testing program from Ambry Genetics.
Parkinson’s Foundation expands national study, improves access to testing, counseling
The Parkinson’s Foundation has expanded its PD GENEration study, a national initiative that offers no-cost genetic testing and counseling to those with Parkinson’s disease, to 23 actively enrolling participant sites.
Polygenic risk scores may assist decision-making in primary care
Researchers said they have developed polygenic risk scores for six common diseases that may offer clinically meaningful information about a person’s disease risk.
Genetic ancestry associated with molecular subtypes, prognosis of childhood ALL
Acute lymphoblastic leukemia molecular subtypes and prognosis appeared associated with genetic ancestry, suggesting a possible genetic basis for racial and ethnic disparities in ALL, according to a study in JAMA Oncology.
Broad panel genetic testing found effective for diagnosing patients with kidney disease
A kidney disease panel for 382 genes yielded a high success rate and was effective in identifying monogenic variants underlying inherited kidney diseases, according to data published in the American Journal of Nephrology.
FDA approves FoundationOne CDx to guide treatment for non-small cell lung cancer subset
The FDA approved FoundationOne CDx as a companion diagnostic to guide treatment selection for certain patients with non-small cell lung cancer.