A molecular test developed at UPMC Hillman Cancer Center and the University of Pittsburgh School of Medicine detected bile duct cancer at roughly twice the rate of standard pathology, offering clinicians a more accurate diagnostic tool for one of oncology’s more elusive malignancies. The test, called BiliSeq, was evaluated in a prospective, multi-institutional study published … Read more
A new study published in the American Journal of Human Genetics offers a look at how genetic risk information can be returned to patients at scale—and where health systems still fall short. The research, conducted through the eMERGE network, a multi-site genomic medicine initiative, tracked the return of genome-informed risk assessments to nearly 24,000 adults … Read more
SINGAPORE – Business executive Ann, 51, was diagnosed with Stage 1 breast cancer in her right breast. But when she opted for a double mastectomy in 2021 at age 47 and had both breasts removed at the same time, her insurers refused to cover the preventive surgery to remove and reconstruct her non-cancerous left breast. … Read more
NEED TO KNOW In 2013, following a strong family history of breast cancer, Jacob Johnson learned he was BRCA2 positive Over a decade later, at the age of 53, the father of three living in Fort Collins, Colo., was diagnosed with a rare and aggressive form of cancer located in his right breast Johnson spoke … Read more
A NHS database for genes linked to cancer will enable tens of thousands of patients to check whether they could be at risk of developing the disease, NHS England has said. The health service said it is building a register of 120 genes known to increase the likelihood of getting cancer – the first of … Read more
Genetic testing in patients with atrial fibrillation (AF) may identify those at higher risk of developing incident cardiomyopathy or heart failure, new research from the Netherlands suggested. In a study that included two longitudinal cohorts (the All of Us Research program and the UK Biobank), the prevalence of inherited rare gene variants associated with cardiomyopathy … Read more
ST. PAUL, Minn., May 25 (UPI) — A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current inefficient detection methods, according to a study to be presented Monday. The new test developed by Australian scientists has proven highly accurate in … Read more
TOPLINE: Late amniocentesis demonstrates a 22.9% overall genetic diagnostic yield, with 2.4 times higher yield for fetuses with multiple organ system anomalies (36.4%) vs single organ system anomalies (15.3%). The procedure shows a low 1.2% complication rate, with delivery occurring at a median of 38 weeks 3 days gestation. METHODOLOGY: Researchers established a collaborative network … Read more
A breakthrough in medical technology played a crucial role in saving the life of hospital analyst Sara Adair, who suffered a sudden and life-threatening aortic dissection. The device in question was an iPhone ultrasound probe, which enabled doctors to make a rapid and accurate diagnosis in a critical moment, reported CBS News. Adair, a mother … Read more
Archyde Revolutionizing Myocarditis Diagnosis and Treatment: A New Framework for Better Patient Care Table of Contents 1. Revolutionizing Myocarditis Diagnosis and Treatment: A New Framework for Better Patient Care 2. A Four-Stage Classification System 3. The Five-Step Care Pathway 4. Addressing Controversies and Gaps 5. looking Ahead 6. what are the Four Stages in the … Read more