Articles related to GENETIC TESTING
A Guide to Genetic Testing in Pediatric Epilepsy
With an estimated 30% to 40% of unexplained epilepsy cases having a genetic etiology, the newest tools offer the potential for timely, accurate diagnoses, resulting in personalized care that can improve outcomes and enhance quality of life.
Neurology November 14th 2023
Health Privacy Laws and Potential Risks to Patients After 23andMe Data Breach
The recent data breach at 23andMe, which resulted in the theft of millions of data points from specific users, highlights the urgent need for robust security measures in genetic testing companies.
All Specialties November 1st 2023
Inequities in Next-Generation Sequencing Testing Among Patients with Advanced Non–Small Cell Lung Cancer
Understand the profound implications of Dr. Vidal’s latest research on racial disparities in NGS testing for advanced non-small cell lung cancer, revealing a systemic issue that spans across practices and extends to the level of individual physicians.
Oncology, Medical June 20th 2023
Heart Disease: CT Scans May Be Best for Predicting Risk During Middle Age
Enhancing Cardiovascular Disease Risk Prediction: Comparing Coronary Artery Calcium and Polygenic Risk Scores A Northwestern University study revealed that both coronary artery calcium and polygenic risk scores significantly influence 10-year risk prediction for coronary heart disease. However, coronary artery calcium score demonstrated superior predictive power, reinforcing the integration of these novel tools in risk prediction models. “What this study says is that in white participants enrolled in 2 observational studies, identifying coronary calcium predicted future cardiac events better than our currently available polygenic risk scores.” Dr. Karol E. Watson, PhD, professor of medicine and cardiology at the David Geffen School of Medicine at the University of California Los Angeles
Cardiology June 6th 2023
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients with Pancreatic Ductal Adenocarcinoma with Pathogenic or Likely Pathogenic Germline Variants
Unraveling gene-specific cancer risks in first-degree relatives of PDAC probands sheds light on a higher uptake of genetic cascade testing. Recent data suggests that first-degree relatives of patients with pancreatic ductal adenocarcinoma (PDAC) who carry pathogenic germline variants (PGVs) in specific cancer syndrome-associated genes face heightened cancer risks. The study focuses on PDAC probands carrying PGVs in nine such genes: ATM, BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2, and CDKN2A. To date, these risks hadn’t been comprehensively analyzed. The study analyzed 234 PDAC probands with PGVs, selected from a pool of 4,562 participants who underwent genetic testing. Findings suggest that different genes correlate to distinct types of cancer. For instance, female relatives of probands with BRCA1 and BRCA2 variants showed significantly increased risks of ovarian and breast cancer. First-degree relatives of probands with Lynch syndrome mismatch repair variants exhibited higher risks of uterine, endometrial, and colon cancer. Additionally, the risk of PDAC itself rose with variants in ATM, BRCA2, CDKN2A, and PALB2, with melanoma risk escalating for relatives of probands with CDKN2A variants. Overall, this research underscores that gene-specific PDAC and extra-PDAC cancer risks in first-degree relatives of PDAC probands are linked with the presence of PGVs in nine cancer […]
Oncology, Medical May 30th 2023