Genetic Testing
Healio Minute, Breast Cancer Edition: Top Headlines for the Week of November 7, 2022
In this episode, data show ‘critical need’ for universal genetic testing; patients with inflammatory breast cancer at high risk for brain metastases; palbociclib fails to benefit breast cancer subgroup and more.
VIDEO: Costs, lack of access exist as perceived barriers to genetic testing for CKD
ORLANDO — In this video from ASN Kidney Week, Mike Spigler, shared the results of a survey connected to the Unknown Causes of Kidney Disease Project regarding genetic testing for chronic kidney disease.
Only two-thirds of patients with young-onset CRC receive referrals for genetic counseling
CHARLOTTE, N.C. — Although 20% of patients with young-onset colorectal cancer have pathogenic germline variants, less than two-thirds receive referrals for genetic counseling, according to a data from the ACG Annual Scientific Meeting.
Data show ‘critical need’ for universal genetic testing of patients with breast cancer
Universal germline genetic testing benefited patients with breast cancer and their physicians in implementing effective precision treatments and personalized disease management, according to study results published in JAMA Network Open.
Black Americans with hypertension open to genetic testing, concerned about kidney disease
Most Black American patients at hypertension and nephrology clinics from a single center reported that apolipoprotein L1 genetic testing would motivate them to change health-related behaviors, according to a published research letter.
ACP: Genetic testing 'must be clinically indicated'
Physicians must carefully consider the risks and benefits of genetic testing and discuss the ethical challenges of the practice with their patients, according to a position paper from the ACP.
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.