Articles tagged with Genetic Testing
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The use of next-generation sequencing in newborn screening can detect a wide range of genetic disorders, some of which are not currently testable through traditional means. This approach enables earlier disease detection and long-term health planning.
A new study reveals significant gaps in genetic evaluation and testing for Black and low-income patients, despite higher rates of testing after receiving results. Researchers call for expanded workforce training, diversification, and policy changes to build equitable systems.
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
Scientists at Michigan Medicine have developed machine learning models that can analyze blood samples for biomarkers to detect ALS earlier and predict disease severity. The models show promising results, with predictions accurate up to 91% in some cases, and could lead to improved diagnostic accuracy and treatment options.
A new report from the University of Maryland School of Medicine presents a five-year data model demonstrating how a state-funded, multidisciplinary care approach can improve health outcomes and quality of life for adults with autism spectrum disorder (ASD) and other neurodevelopmental disorders. The study found that this model can serv...
A Mayo Clinic study found that nearly 90% of people with the inherited condition familial hypercholesterolemia would not have been flagged for standard genetic testing. This condition can cause dangerously high cholesterol and early heart disease, making it highly treatable yet often undiagnosed.
A new urine test can detect SORD deficiency, a common cause of inherited nerve disease, earlier and more cheaply than genetic tests. The test has brought understanding and access to care for affected families, particularly in the Old Order Amish community.
Scientists have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism, a rare and disabling movement disorder that affects primarily men of Filipino ancestry. The test correctly identified cases that routine sequencing methods have missed, leading to proper diagnoses and end diagnostic odysseys.
Researchers are presenting groundbreaking findings at the Association for Molecular Pathology's annual meeting, including a novel technique to study ancient DNA and rapid detection of serious fungal pathogens. The Association for Molecular Pathology is providing press materials and resources for media coverage.
Researchers have made significant advancements in diagnosing acute myeloid leukemia (AML), a common and aggressive form of blood cancer. Genetic testing can now predict relapse after stem cell transplant and detect hidden gene fusions that were previously undetectable.
A recent UK study has highlighted the need for equitable investment and adoption of new innovations in brain tumor care. The research team found that genomic testing has expanded rapidly but many services are struggling to keep pace, leading to regional inequalities in access to advanced treatments.
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.
Researchers discovered that cardiac fibroblasts use a signaling pathway to promote harmful changes in the heart, weakening its ability to pump blood efficiently. Blocking this pathway in mice models improved heart function, suggesting that fibroblasts could be a potential target for new therapeutic strategies.
A new genomic test can identify people with melanoma as being at low or high risk of cancer spreading to their lymph nodes. The test uses gene expression profiles from a tumor sample, eliminating the need for additional biopsies, and may help guide treatment decisions.
The Association for Molecular Pathology has created a standardized biomarker report template to simplify complex molecular profiling data presentation to oncologists and healthcare providers. The template includes guidelines for clear formatting, therapeutic guidance, and references to clinical practice guidelines.
Researchers created a new tool using local ancestry inference (LAI) to provide more accurate insights into genetic differences. The tool reveals that many rare variants are common in specific ancestry segments, leading to more accurate diagnoses and reclassifications of genetic variants.
A new study has created the largest genetic map of human metabolism, revealing key genes controlling metabolites and their impact on health. The research highlights similarities in genetic control across ancestries and sexes, offering new avenues for developing medicines to prevent heart diseases.
Researchers at King's College London have developed a genetic test that can predict which women with abnormal breast cells are most likely to develop invasive breast cancer. The test uses a genetic risk score to estimate a person's inherited likelihood of developing the disease, allowing for more personalized treatment options.
A groundbreaking study aims to improve genetic services for adolescent and young adult (AYA) cancer survivors by integrating digital tools and chatbot technology. Participants will receive tailored communication, digital education tools, and genetic testing, with the goal of increasing uptake of genetic counseling and testing.
Researchers identified 33 plasma proteins that differ significantly in patients with ALS, suggesting the disease could be detected up to 10 years before symptoms appear. Machine learning models showed strong performance in separating ALS cases from non-ALS cases, with an accuracy of over 98.3%.
Researchers have identified over 120 genetic signals shaping foveal development, including pathways involved in vitamin A metabolism and retinal cell fate. The study provides the first comprehensive genetic dissection of human foveal pit architecture, revealing new insights into childhood visual disorders.
Mayo Clinic researchers developed a genetic test that can predict how people will respond to weight loss medications. The test estimates an individual's calories to satiation, linking it to treatment success and providing personalized estimates of expected satiation threshold.
A new genetic test developed at Mayo Clinic is redefining how clinicians diagnose and manage hereditary pancreatitis. The test includes nine genes and uses whole exome sequencing to analyze coding regions, providing comprehensive analysis of disease-causing genes.
Scientists have identified a new genetic material called Inocles, which are large DNA elements hosted by bacteria in the mouth. These findings provide fresh insight into how oral bacteria colonize and persist in humans, with potential implications for health and disease research.
A landmark study in China has established a new diagnosis framework for rare diseases, improving the diagnostic rate from 29.58% to 39%. The study analyzed genetic data from 42,703 families and identified regional differences and genetic hotspots.
A recent study developed a highly accurate risk prediction framework for preterm birth using genomics, transcriptomics, and large language models. The model achieved an AUC of nearly 90%, making it the most powerful approach in predicting preterm birth.
Researchers at The University of Osaka have developed a novel technology to unzip DNA's double helix structure, allowing for efficient and accurate genetic testing. The device uses a nano-sized platinum coil and precise heating to minimize DNA damage and read information from the DNA molecule.
A University of Oklahoma researcher has made a breakthrough discovery about Friedreich’s ataxia genetic defect, revealing that the sequence isn’t always uniform as previously thought. This finding could lead to changes in diagnosis and treatment, including a milder version of the disease with slower progression.
Researchers at UC Davis MIND Institute recommend testing for specific groups, citing inadequate recognition by healthcare providers. The group of genetic conditions affects learning, development, and behavior, with millions of people unaware they carry the premutation.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Researchers discovered how the genome uses competition between proteins to prevent rogue retrotransposon LINE1 from causing damage. The team found that a modified protein NRBP2 marks and disposes of another protein NRBP1, which is no longer functional due to mutations.
Dr. Mirko Manchia's groundbreaking research identifies genetic markers predicting treatment response in bipolar patients, enabling precision medicine approaches to transform psychiatric care. He envisions a future where genetic testing becomes routine in psychiatric care.
Despite clinical recommendations, genetic testing is underutilized among Medicaid-enrolled children with autism spectrum disorder and intellectual disability. The study found stark racial disparities, with Black children less likely to receive genetic testing than their white peers.
A new international study identified two distinct genetic signatures for complex forms of Alzheimer's disease, with one primarily driven by apolipoprotein E and the other involving a combination of 75 additional genetic variants. This shared biological mechanism is largely consistent across global populations.
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.
Researchers created a zebrafish model of XMEA, an ultra-rare genetic disease that progressively weakens muscles. The study found that two compounds improved symptoms in the zebrafish, and autophagy antagonists showed promise for treating the disease.
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
A survey of stakeholders in Japan found that incorporating patient voices into assessments of genetic conditions can recalibrate people's ideas about seriousness, shifting perceptions from a tool of societal burden reduction to individual reproductive autonomy. The study emphasizes the need for including patient voices in shaping ethic...
The BeginNGS Consortium has welcomed Alexion, AstraZeneca Rare Disease as its first Platinum member, furthering the development of genome-informed healthcare delivery. This partnership aims to implement BeginNGS for 1,000 diseases in at least 10 countries by 2030.
A highly sensitive bone marrow test has shown to double survival rates for patients with AML mutations in NPM1 and FLT3 genes, allowing for early detection of potential relapse. This trial indicates that regular molecular testing can improve long-term survival rates by restarting treatment earlier.
Researchers at UMass Amherst's New England Center of Excellence in Vector-borne Diseases have identified a new strain of Rickettsia bacteria that causes spotted fever infections in humans. The discovery in Maine suggests rabbit ticks could be a zoonotic vector for serious infections, contradicting the usual dog tick vector.
A new method for DNA detection uses heterogeneous probe particles and laser light to accelerate genetic analysis. This PCR-free technique offers greater sensitivity and speed than traditional methods, making it more accessible for medical, environmental, and personal health applications.
Researchers at Georgetown University found that claim denials for cancer-related advanced genetic testing increased between 2016 and 2021, despite a recent Medicare national coverage determination. The study analyzed nearly 30,000 claims filed by over 25,000 unique Medicare beneficiaries and suggests uncertainty remains around coverage...
A recent study published in Current Neuropharmacology suggests a potential link between Glucagon-like Peptide-1 (GLP1) receptor agonists and depression, particularly in individuals with low dopamine function. The authors urge caution and recommend genetic testing to identify individuals at risk before prescribing these medications.
Researchers developed a low-cost, non-invasive test that uses cell-free DNA to predict preterm birth with high accuracy. The test has shown promising results in a case-control study.
Researchers have developed an innovative optical genome mapping technique that can identify structural variants and copy number variations across the entire genome in a single test. The method has been shown to reduce material requirements and improve prognostic stratification for patients with multiple myeloma.
This study reveals NAT10 is crucial for spermatogonial proliferation and differentiation. In Nat10-deficient mice, infertility occurs with reduced testicular sizes, germ cell depletion, and a loss of spermatogonial homeostasis.
A study found that smaller embryos already hatching are more likely to be chromosomally normal. This insight helps fertility clinics select better embryos during IVF, particularly for women over 35 or those undergoing PGT-A.
A new artificial intelligence-based method detects genetic markers of antibiotic resistance in bacteria, potentially leading to faster and more effective treatments. The method, called Group Association Model, uses machine learning to identify key mutations linked to drug resistance, reducing false positives and misdiagnoses.
Researchers at SickKids identified three new genes associated with rare childhood diarrhea, providing a diagnosis for 48% of cases. The study found that genetic testing and targeted treatments can improve the quality of life for children like Sophie, who was diagnosed with CODE at just two days old.
Researchers developed a novel blood test that accurately indicates spinal cord injury (SCI) severity and predicts potential recovery. The test identifies multiple biomarkers, including DNA and proteins, to rapidly diagnose SCI and project long-term neurological functional recovery.
A new study led by the University of Michigan Rogel Cancer Center found that patients with three specific variants face no extra risk of dying from their cancer. The researchers used data from the Surveillance, Epidemiology and End Results programs in Georgia and California, looking at a total of about 78,000 patients with breast, colo...
A study found that genetic variants in three genes (CYP2C19, CYP2D6, SLCO1B1) can lead to adverse reactions in up to 75% of cases. This could allow for personalized prescribing and reduce ADRs by three quarters.
Researchers found that detectable mutant KRAS circulating tumor DNA (ctDNA) indicates a higher risk of cancer spread and worse survival rates for patients with pancreatic ductal adenocarcinoma. The study suggests that ctDNA assays should be performed prior to treatment to have the highest yield.
Researchers developed a CRISPR-based diagnostic test that rapidly detects low levels of pathogen genetic material in blood without nucleic acid amplification. The test demonstrated unprecedented sensitivity and could be used to develop highly sensitive CRISPR-based diagnostic tests for detecting pathogens in minutes.
A study published in Human Gene Therapy found that over half of individuals with Niemann-Pick disease type C1 lacked neutralizing antibodies against AAV2 and AAV9. This absence of antibodies may impact the effectiveness of gene therapy treatments for this rare disorder.
Researchers discovered that females' dormant X chromosome reactivates in late life, expressing genes related to brain development and cognitive health. This phenomenon may explain why women outlive men and retain their cognitive abilities longer.
A new genetic testing technique is being developed to help young cancer patients receive more targeted and less toxic treatments. The test analyzes DNA released into the bloodstream by cancer cells, offering a less invasive way to monitor tumor progression and identify new treatment targets.
Professor Collen Masimirembwa receives Precision Medicine World Conference Pioneer Award for his groundbreaking work in pharmacogenomics, advancing personalised medicine and tailoring treatments to individual genetic profiles. His research has improved patient outcomes and saved lives by uncovering critical issues with HIV medications.
A public consultation in the UK found that 90% of respondents would agree to genetic testing for personalized medication use. The study aims to better understand the public's views on pharmacogenetics and its potential impact on healthcare.