Articles tagged with Genetic Testing
A new genetic testing procedure identifies patients at high cardiovascular risk due to clonal haematopoiesis and carotid artery stenosis. This allows for early detection of increased mortality and a personalized cardiovascular risk profile, enabling therapy adaptation and prevention of atherosclerotic disease progression.
A global consortium has studied the connection between a specific gene variation and Pick's disease, a rare form of early-onset dementia. The research found that the MAPT H2 genetic variant is associated with an increased risk of Pick's disease in people of European descent.
Researchers discovered that mutations in noncoding regions of cancer-driving genes can alter mRNA abundance, leading to increased or decreased protein production. This discovery may lead to the development of prognostic testing tools and a better understanding of gene regulation mechanisms in cancer progression.
Young breast cancer survivors without germline pathogenic variants are at lower risk for developing a second primary breast cancer within the first decade after diagnosis. This study informs treatment decision-making and follow-up care considerations in this population.
A new study found that access to genomic testing for cancer is limited by factors such as test availability, patient information, and insurance coverage in both Japan and Switzerland. Despite universal insurance coverage, barriers persist due to differences in hospital accessibility, language barriers, and varying levels of reimbursement.
Researchers developed a smartphone cognitive testing app that detects early signs of FTD in gene carriers before symptoms appear. The app was found to be comparable to gold-standard methods and may enable greater participation in clinical trials.
Researchers developed a single-assay approach using exome sequencing data to detect large-scale pathogenic mutations, detecting 91 previously undetectable mutations. This shift could enable earlier diagnoses and save the NHS vital resources.
Researchers developed an Integrated Classifier Pipeline (ICP) tool to analyze CRISPR edit outcomes and track unintended 'bystander' edits. The ICP system provides a genetic fingerprint of how material is being inherited, helping scientists untangle complex biological issues.
Researchers found that next-generation sequencing (NGS) identified more patients with microsatellite instability than immunohistochemistry (IHC), potentially leading to thousands of missed diagnoses and patients receiving incorrect treatment. NGS could guide the standard of care towards using this test method instead of IHC.
Researchers created a first-of-its-kind super minigene to study the Survival Motor Neuron 2 (SMN2) gene, which causes spinal muscular atrophy. The compact model allows scientists to see how changes play out across the entire gene expression process.
A new study published in Neurology found significant racial disparities in the evaluation and prescription of genetic testing among patients with neurologic conditions. Black patients were half as likely to be evaluated for genetic testing as white patients, despite having similar levels of office visits before evaluation.
Researchers at UNSW Sydney have developed a new technology offering test strips for rapid, on-the-spot disease detection. The test strips are accurate and cost-effective, making them suitable for various applications including public health, environmental diagnostics, and cancer cell detection.
A new machine learning approach using Alu elements in blood plasma has improved the detection of cancer early by reaching 98.9% specificity. The test can catch 41% more cancer cases than existing biomarkers and is expected to complement other cancer tests.
A Cancer Research UK-funded study uses AI to identify two distinct subtypes of prostate cancer, termed evotypes, which could lead to personalized treatments. The discovery has the potential to improve diagnosis and treatment outcomes, saving thousands of lives in the future.
Researchers have developed a genetic risk tool that combines genetic factors with demographic information to improve MS risk prediction in young people presenting with optic neuritis. The study shows that this approach can help identify patients at high risk of MS, potentially enabling earlier treatment and improving long-term health.
A new study published in Oncotarget reveals a higher prevalence of germline BRCA1 and BRCA2 mutations in ovarian cancer patients from the Salento peninsula, with 28.6% having familial cases and 39.7% having sporadic cases. The study found that 29.8% of patients were carriers of BRCA1/2 mutation.
Scientists at UCSF discovered a new way to test for autism by measuring how children's eyes move when they turn their heads. Children with severe autism have an unusual form of the vestibulo-ocular reflex, which can be measured with a simple eye-tracking device.
Researchers optimized polygenic risk scores using ancestrally diverse genomic data to improve accuracy across diverse populations. The recalibrated tests provided a more accurate assessment of disease risk for individuals with varied ancestral backgrounds.
Researchers developed a novel assay that integrates data from four fusion callers to identify disease-related gene fusions in pediatric tumors with high accuracy and efficiency. The new bioinformatics platform detected fusions, prioritized them, and custom curated downstream processes for consensus fusion calling.
A new study has identified a genetic marker that can predict which patients are likely to respond to immunotherapy in various types of cancer. Tumors with high intragenic rearrangement (IGR) burden, which indicates cryptic structural rearrangements of the genetic code, may respond better to immunotherapy.
Researchers develop epigenetic clocks based on regional disorder of DNA methylation patterns, identifying common responses and critical differences from canonical clocks. These findings suggest a fundamental decoupling of epigenetic aging processes.
A pilot study proposes a promising global genomic assay for diagnosing molecular subtypes in pediatric B-ALL, leading to more accurate diagnosis and targeted treatment options. RNA sequencing analysis accurately identified subtypes in all known cases and determined genetic subtype in 79% of previously unknown cases.
A team of researchers from MIT and the Broad Institute developed two types of injectable molecules called 'priming agents' that can boost DNA levels in blood samples, allowing for earlier cancer diagnosis and more sensitive detection of tumor mutations. The approach could also help improve detection of cancer recurrence.
Rice bioengineer Jerzy Szablowski and colleagues have engineered a synthetic serum marker that enables non-invasive neural monitoring by tracking gene expression dynamics in the brain. This breakthrough allows researchers to investigate brain development, cognitive function and neurological diseases more effectively.
A research team developed a novel blood test called desNIPT to screen pregnant women for genetic diseases in their unborn children. The test has demonstrated effectiveness in identifying alterations in fetal genes, similar to invasive procedures like chorionic villus sampling or amniocentesis.
The Association for Molecular Pathology published a report outlining considerations for a slice testing strategy, including gene selection and quality. This approach combines the advantages of high-quality gene panels with flexibility and broad scope of exome sequencing.
A new study found that one in six elite athletes have reduced heart function and an enrichment of genes associated with heart muscle disease. The research highlights the need for closer monitoring of these athletes' heart health, as their genetic makeup may be 'stressed' by exercise to cause profound heart changes.
Researchers developed a framework to identify genetic contributors to disease by applying stress tests to human blood cells. This study found links between blood-response characteristics and subsets of common diseases.
A new study suggests that genetic testing for depression could lead to significant cost savings and improved patient outcomes. The test, known as pharmacogenomic testing, can help match patients with medications that are more likely to be effective and cause fewer side effects.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
The LoCKAmp device uses lab-on-a-chip technology to detect Covid-19 and other pathogens in just three minutes, providing rapid and accurate results. The device has the potential to be used in remote healthcare settings and could also detect conditions like cancer.
A study by Queen Mary University of London reveals that trust is the key factor in British South Asians' participation in genetic testing. Participants emphasize the importance of General Practitioners (GPs) as trustworthy professionals and personalized prescribing with genetic information to enhance trust and medication adherence.
A new method extracts DNA from cat hair, linking suspects and crime scenes, with potential applications in dog cases too. Researchers found a single cat hair contains usable DNA, which can be sequenced for a more powerful link.
Researchers developed a new epigenetic clock that accurately measures biological aging in healthy and unhealthy tissue, outperforming current clocks. The Glasgow-Karolinska Clock showed promise in assessing the impact of chronic kidney disease on aging, even after dialysis treatment.
A phase 2 clinical trial found that serial blood tests can identify patients who benefit from additional immunotherapies, suggesting a potential early marker of treatment response. The study also showed that ctDNA analyses correlated with tumor size and survival, making it a promising strategy for guiding therapy.
A new national ALS research consortium, Access for All in ALS, has been launched with a $16.7 million NIH award. The consortium will include 34 clinical sites nationwide and generate a longitudinal biorepository linked to detailed clinical information.
The study analyzed 10,000 gene expression signatures to assess their prognostic ability, finding that they lead to accurate patient prognosis in no more than 80% of cases. The researchers emphasize the need for a comprehensive approach incorporating molecular, clinical, histological, and other factors to ensure an accurate prognosis.
A new study found that precision medicine navigators can significantly increase genomic testing rates for Black patients with prostate cancer. Genomic testing is used to gauge the likelihood of cancer metastasis and has been shown to be more accurate than traditional tests in predicting treatment outcomes.
Researchers at Rice University have developed a non-invasive gene delivery technique using ultrasound to efficiently deliver clinically used gene therapy vectors throughout the brain. The study, published in Gene Therapy, shows that opening more sites within targeted regions improves gene delivery efficiency.
A study by the University of Helsinki has identified two genetic risk factors, RNF207 and PRKAA2, that contribute to dilated cardiomyopathy in both humans and Dobermanns. The research offers a new perspective on the disease and may lead to the development of early diagnostic tests for breeders.
The new guidelines provide a framework for genetic testing and counseling, recommending comprehensive testing and gene-targeted therapies for all persons with ALS. The guidelines aim to improve access and standardize practice among neurologists and genetic counselors.
North Carolina State University researchers successfully transferred an important gene from one compartment of a plant cell to another, producing tobacco plants that lack pollen and viable seeds. The findings could lead to better ways of producing hybrid seeds to maximize crop productivity.
Scientists have detected new strains of malaria-causing parasites in Ethiopia that are resistant to current treatments and escape detection by common diagnostic tests. The prevalence of these double-resistant parasites is a concern for malaria control and elimination efforts in Africa, where the disease remains endemic.
Researchers found that patients with HPV-positive cancers develop recurrent disease significantly later than those that were HPV-negative, and also are more likely to spread to the lungs. A new, highly sensitive blood test has been developed to detect cancer earlier, using a framework for combining routine blood testing and imaging.
The study presents a pioneering detection tool that combines molecular biology and electronics to identify various pathogenic agents. The technology has demonstrated remarkable sensitivity detecting as few as 10 target molecules and rapid results under one hour.
Researchers found that pregnant mice experiencing copy number variation (CNV) showed similarities to aging, with biomarkers and genetic effects appearing during pregnancy and reversing after delivery. This study aims to revolutionize aging treatment by investigating the mechanisms behind post-labor rejuvenation.
Researchers developed a molecular test to identify brain tumors by analyzing genetic material in cerebrospinal fluid. The Real-CSF test correctly identified 67% of cancerous and 96% of noncancerous brain lesions, outperforming standard cytology methods.
A promising molecular diagnostic tool uses a single biomarker to detect primary bladder cancer in patients with hematuria, showing high sensitivity and accuracy. The noninvasive test offers advantages such as shorter turnaround time and efficient analysis of results.
A recent study reveals that past climate changes and vegetation shifts played a key role in determining when and where early human species interbred. The research suggests that the overlap of habitats led to increased encounters and interactions among groups, increasing the chance of interbreeding.
The GEMINI blood test uses machine learning to identify cancer-causing mutations in single molecules of cell-free DNA. The test detected over 90% of lung cancers, including stage I and II cases, in a proof-of-concept study published in Nature Genetics.
Researchers are studying the characteristics of fragile X-associated tremor ataxia syndrome (FXTAS), aiming to develop treatments for this debilitating condition. The study focuses on understanding the phenotype of FXTAS, including its progression and impact on males and females.
The 'Ivory Lady', a Copper Age individual from Iberia, is re-dubbed as the highest status woman in ancient society. Peptide analysis revealed that she held a high social status through merit and achievements.
Researchers found that increasing dietary restraint can counteract the effects of obesity risk genes, particularly for disinhibition and hunger. The study suggests that flexible strategies such as mindful eating can be as effective as rigid calorie counting in improving BMI in genetically at-risk individuals.
Researchers have developed a technology to capture and release cell-free DNA from urine using nanowire surfaces, successfully detecting IDH1 mutation in glioma patients. This method opens possibilities for the detection of other tumor mutations and could revolutionize cancer diagnosis.
A Mayo Clinic study evaluated 1,152 patients with rare diseases using genomic testing, determining or likely determining the cause of disease in 17.5-66.7% of cases. This led to changes in medical approaches for 42.7% of patients, improving patient care and diagnosis.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
Researchers at Washington University School of Medicine developed a catalog to classify protein variants associated with limb girdle muscular dystrophy. The approach enables doctors to determine the pathogenicity of variants, leading to more precise diagnoses and potential therapies.
Researchers developed Eye2Gene, an AI system that accurately identifies genetic causes of inherited retinal diseases from retinal scans. The system achieved higher accuracy than human experts in identifying causative genes, with a ranking score above 70% in over 70% of cases.
A recent study found that germline genetic testing after cancer diagnosis is underutilized, with rates significantly lower among Asian, Black, and Hispanic patients compared to non-Hispanic whites. The study, published in JAMA, suggests disparities in access to genetic testing by race.
Researchers successfully demonstrate AAV vector efficacy in aged animal models, showing robust hearing rescue in mice with a mutation equivalent to a defective human gene. The study suggests that virally mediated gene therapy could potentially treat genetic hearing loss, especially for patients diagnosed at advanced age.