Whole-genome sequencing (WGS) identifies additional genetic causes of hypertrophic cardiomyopathy (HCM) beyond those identified through targeted gene sequencing approaches, according to a study … [Read more...]
PRECISION MEDICINE
Next-Gen Sequencing Has Significant Utility for Drug-Resistant Epilepsy
August 6, 2018
Next-generation sequencing improves definitive diagnoses for children with drug-resistant epilepsy, according to a pilot study published online June 22 in CNS Neuroscience & Therapeutics. … [Read more...]
PRECISION MEDICINE
New Study Provides Most Comprehensive Overview of Genetic Test Development, Usage and Spending
June 11, 2018
As might be expected, there has been rapid growth in genetic test availability and spending on these tests since 2014. But, comprehensive new collaborative analysis conducted by Concert Genetics … [Read more...]
EMERGING TESTS
Expanded Carrier Screening IDs Rare Variants in Diverse Populations
June 4, 2018
Expanded next-generation sequencing-based carrier screening improves detection of rare and novel pathogenic variants even in a pan-ethnic population, according to a study published May 10 in the … [Read more...]
EMERGING TESTS
Genetic Risk Score Could Improve Diagnosis of Atrial Fibrillation
May 14, 2018
A genetic risk score (GRS) may identify patients at highest risk for developing atrial fibrillation (AF), according to a study published March 13 in PLOS Medicine. The authors say that patients with a … [Read more...]
EMERGING TESTS
Fecal Profiling Could Personalize Diets with Irritable Bowel
April 24, 2018
Fecal profiling of volatile organic compounds (VOC) may predict response to dietary interventions in patients with irritable bowel syndrome (IBS), according to a study published in the March issue of … [Read more...]
EMERGING TESTS
Pap Test Fluids May Contain DNA Useful for Endometrial, Ovarian Cancer Diagnosis
April 24, 2018
Cervical fluid samples gathered during routine Papanicolaou (Pap) tests can potentially be used for screening test women for endometrial and ovarian cancers, according to a study published March 21 in … [Read more...]
EMERGING TESTS
Artificial Intelligence Merges Histology, Genomics to Predict Survival
April 24, 2018
A deep learning computational approach can predict survival with brain tumors directly from digital histological images and genomic biomarkers, according to a study published online March 12 in the … [Read more...]
EMERGING TESTS
SIDs Results From Genetic Heart Disease Less Than Previously Thought
April 23, 2018
The vast majority of sudden infant death syndrome (SIDS) cases are not the result of genetic heart diseases (GHDs) or a single genetic cause, according to a study published March 12 in the Journal of … [Read more...]
EMERGING TESTS
Researchers Develop First Multiplex Test for Tick-Borne Disease Detection
April 16, 2018
Researchers have developed the first multiplex array for diagnosis of tickborne diseases, according to a study published online Feb. 16 in Nature Scientific Reports. The TBD-Serochip can … [Read more...]
