Articles related to GENETIC TESTING

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.

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.

Discover how the FDA-approved Invitae’s Common Hereditary Cancers Panel can enhance your approach to early cancer detection and personalized treatment planning.

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.

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

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 […]