Articles tagged with Genetic Testing
A new study suggests that genetic testing added to routine newborn screening can identify babies at increased risk of developing cancer before symptoms appear. The study found pathogenic or likely pathogenic variants in 132 children, nearly seven percent of the group, linked to pediatric cancer predisposition syndromes.
A Brazilian engineer's family is diagnosed with hereditary medullary carcinoma after genetic testing reveals an inherited mutation in the RET gene. The condition was initially reactive but shifted to preventive and precision strategies, allowing for earlier interventions and improved outcomes.
Dr. Elaine S. Jaffe receives AMP's highest honor for pioneering contributions to lymphoma diagnosis and treatment. Dr. Laura J. Tafe is recognized for her leadership and service to the organization, while Dr. Daniel E. Sabath receives the Meritorious Service Award for his dedication to scientific excellence and organizational service.
A new study from MUSC suggests that combining flexible testing options and community partnerships can bring populationwide genomic screening to rural and socially vulnerable communities. Over 50,000 adults have completed screening through In Our DNA SC, a program that has reached participants in all 46 South Carolina counties.
A new study by Mount Sinai researchers has estimated that Phelan-McDermid syndrome affects approximately 13.7 cases per 100,000 people, equivalent to about 1 in 7,300 individuals. The condition is a rare genetic disorder caused by deletion or mutation of the SHANK3 gene and often co-occurs with autism spectrum disorder.
Researchers have validated a genetic scoring tool that can identify patients with idiopathic pulmonary fibrosis and predict clinical outcomes. The tool, which combines the effects of over 60,000 DNA variants, shows promise in distinguishing the disease from other forms of interstitial lung disease.
A new Mayo Clinic study shows that integrating telomere length evaluation and genetic testing into pulmonary care can significantly change how physicians diagnose and treat pulmonary fibrosis. Nearly 1 in 5 patients had a disease-causing genetic variant, leading to changes in clinical care for more than half of patients.
Researchers emphasize the need for large-scale population studies to assess the risks of newborn genome screening and minimize overdiagnosis. The study highlights that most genetic research has been conducted in individuals with a condition or high-risk family, resulting in underestimated risk estimates.
A pediatric ophthalmologist is leading a $1 million NIH grant to study the genetics of cataracts in children. The goal is to develop a comprehensive AI-assisted database of genes associated with potential diseases.
The HUG-CELL project aims to identify couples at risk of transmitting recessive genetic disorders and Fragile X syndrome. The initiative will create a large genetic database for Brazil to determine the prevalence of hereditary genetic diseases and develop 'risk calculators' based on the diversity of the Brazilian population.
A large study found significant genetic similarities between gestational diabetes and type 2 diabetes, with 37 genetic variants associated with gestational diabetes. The research also suggests that genetic effects may differ across populations, offering new insights into the underlying causes of these conditions.
Researchers from The University of Osaka identified a unique genetic pattern in carcinoma cuniculatum, a rare type of oral cancer with slower growth and lower risk of spread. This discovery may lead to improved diagnosis and targeted treatment for this challenging-to-diagnose condition.
A new Mayo Clinic study sequenced the genomes of 484 healthy adults, finding that 13% carried a serious genomic risk. The study highlights the challenges of integrating genomic findings into routine care and positions predictive genomic screening as a clinical opportunity.
A national UK study found that nearly half of untested breast and ovarian cancer patients carry a heritable genetic variant increasing cancer risk. The study reveals the potential benefits of efficient genetic testing to identify at-risk individuals and inform targeted follow-up care.
The Alliance for Clinical Trials in Oncology has several active trials specifically designed to help people with head and neck cancers. Trials include testing high-dose prophylactic gabapentin to prevent opioid use during treatment, as well as immunotherapy with nivolumab and cabozantinib for mucosal melanoma and nasopharyngeal carcino...
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
The Alliance for Clinical Trials in Oncology is enrolling adolescent and young adult cancer patients in various trials, including genetic services and treatment studies. These trials aim to address longstanding gaps in care and improve outcomes for AYAs with cancer.
A new blood-based biomarker has been discovered to help identify individuals at higher risk of developing cancer in people with Lynch Syndrome. The biomarker uses immune signatures detected in blood samples to provide unique characteristics that can detect cancer risk, allowing for early detection and personalized surveillance.
A new study from the University of Missouri identified over 10 genetic or molecular markers that predict follicular lymphoma relapse early, allowing for targeted surveillance testing. This could improve patient outcomes, reduce unnecessary imaging tests, and lower healthcare costs.
A web-based platform, GIFT, educates people with cancer about the impact of genetic variants on their family. The tool allows patients to invite relatives and provides information, decision support, and access to genetic testing.
A new clinical diagnostic test using optical genome mapping (OGM) has been shown to detect additional genetic variants in nearly 20% of individuals with acute leukemia. OGM offers a comprehensive view of the genome, refining diagnosis and risk stratification, and improving therapy selection. The test's high diagnostic yield and ability...
A study analyzing ancient parrot DNA has uncovered a thriving pre-Inca trade network that connected Amazonian forests with arid communities across the Andes. The research shows that parrots were transported alive across the Andes, over 500 kilometers, to be used in coastal ritual contexts.
A new study reveals that people of South Asian, African, and European ancestry share common genetic risk factors for multiple sclerosis, despite historic lack of representation in research. The study highlights the importance of diverse representation in research to improve understanding of the disease and develop effective treatments.
A new clinical study aims to improve communication between patients and families about genetic risks of colorectal cancer. The trial will compare two methods of sharing genetic test results with close relatives, with the goal of learning which approach helps more family members get necessary genetic testing.
A recent clinical trial found that remote telehealth services increased the uptake of genetic counseling and testing in adult survivors of childhood cancers. The study showed a significant impact on reducing morbidity and mortality by driving earlier detection of subsequent cancer.
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.
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.
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.